variantaccession chr start end varianttype variantsubtype reference pubmedid method platform mergedvariants supportingvariants mergedorsample frequency samplesize observedgains observedlosses cohortdescription genes samples dgv1n82 1 1 11981 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nsv945697,nsv945698 M 97 10 0 DDX11L1,LOC100288778,MIR6859-1,MIR6859-2,WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv7879 1 1 117193 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv14786,nssv14785,nssv14773,nssv14772,nssv14781,nssv14771,nssv14764,nssv14775,nssv14762,nssv14766,nssv18103,nssv14777,nssv14770,nssv14789,nssv14782,nssv14788,nssv14791,nssv14784,nssv14790,nssv14787,nssv18117,nssv14776,nssv21423,nssv14763,nssv14768,nssv14783,nssv14780,nssv14774,nssv18113,nssv18093 M 31 25 1 DDX11L1,FAM138A,FAM138F,LOC100288778,MIR6859-1,MIR6859-2,OR4F5,WASH7P NA07029,NA07048,NA10839,NA10863,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv428112 1 377 167280 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv450130 M 62 1 0 DDX11L1,FAM138A,FAM138F,LOC100288778,LOC729737,MIR6859-1,MIR6859-2,OR4F5,WASH7P HGDP01088 esv2758911 1 377 1008567 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757715,esv2756831 M 270 17 169 AGRN,C1orf159,C1orf170,DDX11L1,FAM138A,FAM138F,FAM41C,FAM87B,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC100288778,LOC729737,MIR6723,MIR6859-1,MIR6859-2,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,RNF223,SAMD11,WASH7P NA06985,NA07000,NA07019,NA07034,NA07056,NA10835,NA10838,NA10846,NA10855,NA10857,NA10860,NA10863,NA11829,NA11830,NA11832,NA11840,NA11993,NA11994,NA11995,NA12004,NA12005,NA12044,NA12056,NA12057,NA12144,NA12155,NA12234,NA12239,NA12248,NA12249,NA12740,NA12752,NA12760,NA12762,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12873,NA12874,NA12875,NA12891,NA18500,NA18501,NA18502,NA18505,NA18506,NA18507,NA18508,NA18516,NA18521,NA18523,NA18524,NA18529,NA18532,NA18537,NA18540,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18603,NA18608,NA18609,NA18611,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18871,NA18912,NA18913,NA18914,NA18940,NA18944,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18974,NA18975,NA18976,NA18978,NA18981,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA19000,NA19007,NA19094,NA19098,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223 esv27265 1 499 167231 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv16041,esv19525,esv19430,esv20178,esv14423,esv15038,esv17542 M 40 32 6 DDX11L1,FAM138A,FAM138F,LOC100288778,LOC729737,MIR6859-1,MIR6859-2,OR4F5,WASH7P NA06985,NA07037,NA11894,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv1e59 1 1052 26650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3343481,esv3364878 M 185 2 0 DDX11L1,FAM138A,FAM138F,LOC100288778,MIR6859-1,MIR6859-2,WASH7P NA12878,NA19239 nsv945700 1 11981 12586 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572127,nssv2570974,nssv2571007,nssv2570996,nssv2571018,nssv2570930,nssv2570963,nssv2570941,nssv2571099,nssv2572228,nssv2570985,nssv2570952 M 97 10 0 WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945699 1 11981 24883 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755475,nssv1749217,nssv1749258,nssv1749240,nssv1749206,nssv1749226,nssv1755466,nssv1749220,nssv1755469,nssv1749252,nssv1755476,nssv1749255,nssv1755461,nssv1749209,nssv1755464,nssv1749242,nssv1749265,nssv1749221,nssv1749262,nssv1749232,nssv1749202,nssv1749213,nssv1749214,nssv1749254,nssv1755480,nssv1749237,nssv1749261,nssv1749244,nssv1749257,nssv1749219,nssv1755468,nssv1749236,nssv1755474,nssv1749215,nssv1749210,nssv1749224,nssv1755478,nssv1749246,nssv1749266,nssv1749249,nssv1755471,nssv1749239,nssv1755472,nssv1749253,nssv1755477,nssv1749251,nssv1749211,nssv1749208,nssv1755467,nssv1749235,nssv1755473,nssv1749241,nssv1749264,nssv1749205,nssv1749260,nssv1749222,nssv1755465,nssv1749229,nssv1749204,nssv1749238,nssv1755462,nssv1749218,nssv1755463,nssv1749227,nssv1749203,nssv1749248,nssv1749263,nssv1749230,nssv1755479,nssv1749228,nssv1749259,nssv1749250,nssv1749231,nssv1749233,nssv1749216,nssv1749207,nssv1749247,nssv1755460,nssv1749225,nssv1749243 M 97 10 0 FAM138A,FAM138F,WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945484 1 13524 14682 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575222,nssv2575215,nssv2576584,nssv2576570,nssv2576583,nssv2575223,nssv2575214,nssv2576549,nssv2576580,nssv2576561,nssv2570921,nssv2576560,nssv2575209,nssv2576552,nssv2575211,nssv2576562,nssv2574190,nssv2576577,nssv2576581,nssv2576186,nssv2572821,nssv2575440,nssv2570923,nssv2576574,nssv2575210,nssv2576555,nssv2572826,nssv2575224,nssv2572962,nssv2575221,nssv2572831,nssv2576556,nssv2572827,nssv2576548,nssv2576582,nssv2575217,nssv2573987,nssv2576572,nssv2572828,nssv2576563,nssv2576585,nssv2575984,nssv2572824,nssv2576085,nssv2570922,nssv2572738,nssv2575220,nssv2576566,nssv2572830,nssv2576568,nssv2570920,nssv2576565,nssv2572861,nssv2575237,nssv2574088,nssv2576573,nssv2575208,nssv2575218,nssv2572820,nssv2576557,nssv2575212,nssv2576547,nssv2572822,nssv2575338,nssv2572823,nssv2576567,nssv2572829,nssv2576559,nssv2575188,nssv2576569,nssv2575219,nssv2576578,nssv2576571,nssv2576550,nssv2576551,nssv2576558,nssv2576554,nssv2576579,nssv2575213,nssv2576576 M 97 10 0 WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv469759 1 17843 167209 CNV gain Locke_et_al_2006 16826518 BAC aCGH nssv1675941,nssv1672301,nssv1674201,nssv1673353,nssv1673181,nssv1673526,nssv1672137,nssv1675248,nssv1676076,nssv1674071,nssv1675044,nssv1675415,nssv1672641,nssv1676217 M 265 14 0 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P nsv471591 1 17844 167209 CNV loss Sharp_et_al_2005 15918152 BAC aCGH,FISH nssv550438,nssv550437,nssv550436,nssv550435 M 48 0 4 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA10492,NA10970,NA10971,NA17051 esv3433926 1 18852 25250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692083 M 185 1 0 FAM138A,FAM138F,WASH7P NA12892 nsv945486 1 20489 24883 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570932,nssv2570958,nssv2570933,nssv2570961,nssv2570935,nssv2570929,nssv2570927,nssv2570948,nssv2570956,nssv2570949,nssv2570939,nssv2570959,nssv2570926,nssv2570971,nssv2570976,nssv2570977,nssv2570955,nssv2570957,nssv2570953,nssv2570964,nssv2570951,nssv2570969,nssv2570970,nssv2570973,nssv2570944,nssv2570967,nssv2570975,nssv2570938,nssv2570947,nssv2570972,nssv2570966,nssv2570934,nssv2570940,nssv2570968,nssv2570931,nssv2570945,nssv2570962,nssv2570937,nssv2570942,nssv2570943,nssv2570950,nssv2570960,nssv2570946,nssv2570936,nssv2570954,nssv2570925,nssv2570928,nssv2570965 M 97 10 0 FAM138A,FAM138F HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945487 1 24883 30972 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570986,nssv2570979,nssv2570980,nssv2570981,nssv2570984,nssv2570987,nssv2570989,nssv2570988,nssv2570978,nssv2570982,nssv2570983 M 97 10 0 FAM138A,FAM138F HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3411655 1 27352 33450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692270 M 185 1 0 "" NA19238 esv3430433 1 28752 30550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692283 M 185 1 0 "" NA12878 esv3368735 1 34852 41350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692302 M 185 1 0 "" NA19238 dgv1n54 1 35394 110905 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544869,nsv544866,nsv544868 M 17421 0 3 OR4F5 esv3369077 1 35652 36850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692306 M 185 1 0 "" NA19239 esv3428396 1 35752 43850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692307 M 185 1 0 "" NA19240 esv3439865 1 37552 41350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692320 M 185 1 0 "" NA19239 nsv544867 1 39161 72017 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707616,nssv707617 M 17421 1 1 OR4F5 esv3335281 1 41952 44250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692333 M 185 1 0 "" NA19238 nsv437198 1 45257 76166 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467079 M 60 0 1 OR4F5 NA19208 nsv1003485 1 51586 346393 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696557,nssv3696548,nssv3469447,nssv3474744,nssv3696547,nssv3696544,nssv3696569,nssv3470867,nssv3696546,nssv3696545,nssv3479706,nssv3479800,nssv3696552,nssv3696549,nssv3696556,nssv3482016,nssv3465187,nssv3468415,nssv3472186,nssv3478347,nssv3696551,nssv3476884,nssv3696550,nssv3471191,nssv3463296,nssv3696555,nssv3463288,nssv3475098,nssv3696553,nssv3471949,nssv3696554,nssv3696559,nssv3696565,nssv3696568,nssv3696558,nssv3464195,nssv3481510,nssv3464043,nssv3478162,nssv3696560,nssv3696564,nssv3696539,nssv3477228,nssv3473948,nssv3696563,nssv3480547,nssv3696562,nssv3696561,nssv3482522,nssv3479827,nssv3696566,nssv3463892,nssv3470584,nssv3474145,nssv3696567,nssv3475970,nssv3479826,nssv3475404,nssv3481387,nssv3475347,nssv3473393,nssv3462938,nssv3464394,nssv3470043,nssv3477702,nssv3465963,nssv3467996,nssv3696543,nssv3474318,nssv3470363,nssv3464405,nssv3474836,nssv3696576,nssv3463137,nssv3468667,nssv3474000,nssv3696572,nssv3465705,nssv3696571,nssv3467078,nssv3472604,nssv3476550,nssv3696590,nssv3471339,nssv3696570,nssv3482040,nssv3472726,nssv3476068,nssv3473021,nssv3467692,nssv3468833,nssv3696573,nssv3471338,nssv3470564,nssv3481242,nssv3466436,nssv3466203,nssv3479224,nssv3466202,nssv3696575,nssv3466437,nssv3475053,nssv3696574,nssv3477538,nssv3474459,nssv3463689,nssv3473908,nssv3467488,nssv3696535,nssv3474319,nssv3696589,nssv3469376,nssv3696542,nssv3696580,nssv3463623,nssv3478808,nssv3474916,nssv3696579,nssv3482136,nssv3696534,nssv3464557,nssv3471715,nssv3696578,nssv3463951,nssv3696532,nssv3696533,nssv3696577,nssv3462798,nssv3696541,nssv3696538,nssv3696588,nssv3696581,nssv3696582,nssv3480039,nssv3463106,nssv3479033,nssv3696536,nssv3696537,nssv3465261,nssv3696583,nssv3696587,nssv3696540,nssv3696586,nssv3467338,nssv3696584,nssv3696585 M 29084 113 33 LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F5 nsv1012710 1 51586 554484 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696638,nssv3696635,nssv3470312,nssv3480704,nssv3481978,nssv3472072,nssv3479933,nssv3476434,nssv3464929,nssv3475711,nssv3482073,nssv3480935,nssv3465769,nssv3696591,nssv3468513,nssv3696600,nssv3696616,nssv3469378,nssv3479156,nssv3481332,nssv3472175,nssv3696646,nssv3696639,nssv3696596,nssv3482697,nssv3696645,nssv3696620,nssv3480975,nssv3465002,nssv3464580,nssv3696642,nssv3696599,nssv3696595,nssv3482539,nssv3464111,nssv3696641,nssv3696593,nssv3696592,nssv3463498,nssv3470532,nssv3696594,nssv3696640,nssv3478168,nssv3478286,nssv3696598,nssv3482095,nssv3696644,nssv3474426,nssv3464181,nssv3480012,nssv3479089,nssv3473146,nssv3466983,nssv3696643,nssv3475328,nssv3696597,nssv3466186,nssv3469400,nssv3479938,nssv3479862,nssv3478182,nssv3696605,nssv3696653,nssv3467925,nssv3472758,nssv3480070,nssv3696601,nssv3471872,nssv3696602,nssv3696647,nssv3696604,nssv3696615,nssv3472928,nssv3464988,nssv3696603,nssv3464742,nssv3696611,nssv3473127,nssv3476811,nssv3479866,nssv3462927,nssv3482163,nssv3696610,nssv3469240,nssv3696652,nssv3696648,nssv3471503,nssv3470929,nssv3467234,nssv3696609,nssv3696651,nssv3463257,nssv3696649,nssv3696650,nssv3696606,nssv3466549,nssv3696608,nssv3469759,nssv3696607,nssv3481388,nssv3467540,nssv3696614,nssv3696612,nssv3696654,nssv3468652,nssv3471124,nssv3477491,nssv3478180,nssv3696633,nssv3481305,nssv3478377,nssv3469834,nssv3696613,nssv3467978,nssv3480293,nssv3479370,nssv3477907,nssv3470813,nssv3474026,nssv3476533,nssv3469219,nssv3465440,nssv3696618,nssv3469076,nssv3696619,nssv3467567,nssv3479058,nssv3696637,nssv3480638,nssv3463871,nssv3696625,nssv3465835,nssv3462871,nssv3477104,nssv3482578,nssv3481058,nssv3696617,nssv3469377,nssv3475132,nssv3466521,nssv3478719,nssv3478775,nssv3475815,nssv3468407,nssv3476545,nssv3478367,nssv3478626,nssv3696624,nssv3463615,nssv3463386,nssv3471333,nssv3474690,nssv3472080,nssv3471413,nssv3472744,nssv3481243,nssv3466376,nssv3696623,nssv3468104,nssv3696622,nssv3696621,nssv3481486,nssv3475059,nssv3472950,nssv3475063,nssv3696626,nssv3696636,nssv3482530,nssv3464840,nssv3696631,nssv3696628,nssv3470683,nssv3696627,nssv3466663,nssv3468901,nssv3478526,nssv3465516,nssv3467406,nssv3472679,nssv3696630,nssv3473340,nssv3462962,nssv3481943,nssv3470437,nssv3467571,nssv3474321,nssv3480770,nssv3478152,nssv3467209,nssv3696629,nssv3473500,nssv3475905,nssv3465361,nssv3464923,nssv3473499,nssv3479378,nssv3465366,nssv3696634,nssv3476503,nssv3696632,nssv3473204,nssv3481550,nssv3471939 M 29084 203 0 LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 dgv1n100 1 51586 615321 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001186,nsv1013965,nsv1009288 M 29084 203 139 LOC100132062,LOC100132287,LOC100133331,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 dgv2n100 1 51586 782343 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998573,nsv1009070,nsv1010257,nsv1004629,nsv1014330 M 29084 41 6 FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 nsv999242 1 51586 813987 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479990 M 29084 0 1 FAM41C,FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 dgv3n100 1 51586 826936 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002580,nsv1009584,nsv999289,nsv1000964,nsv999814,nsv1007490,nsv1002712,nsv1007952,nsv1013955,nsv1011132,nsv998077,nsv1010556,nsv1001532,nsv1011222,nsv999976,nsv1001549,nsv1012687,nsv997879,nsv1011779 M 29084 59 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 esv2764260 1 51598 225801 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004870,essv7004857,essv7004877,essv7004871,essv7004864,essv7004875,essv7004872,essv7004876,essv7004863,essv7004874,essv7004860,essv7004865,essv7004862,essv7004869,essv7004858,essv7004866,essv7004861,essv7004873,essv7004868,essv7004859 M 1109 8 12 LOC729737,OR4F5 RW_0064,RW_0071,RW_0077,RW_0137,RW_0148,RW_0155,RW_0161,RW_0166,RW_0184,RW_0229,RW_0233,RW_0289,RW_0328,RW_0502,RW_0528,RW_0564,RW_0608,RW_0611,RW_0620,RW_0652 esv2763187 1 51598 346405 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7024076,essv7028967,essv6999632,essv7001855,essv7030078,essv6990744,essv7001854,essv6995188,essv7002966,essv7006299,essv6991855,essv6998521,essv6997410,essv7032300,essv7000743,essv7005188,essv6990743,essv6990742,essv7031189,essv6992966,essv7004077,essv6996299,essv7027856,essv7012965,essv6994077 M 1109 17 8 LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F5 SW_0002,SW_0044,SW_0060,SW_0086,SW_0148,SW_0160,SW_0200,SW_0257,SW_0831,SW_0871,SW_0892,SW_1000,SW_1029,SW_1039,SW_1060,SW_1063,SW_1085,SW_1092,SW_1105,SW_1107,SW_1265,SW_1273,SW_1361,SW_1425,SW_1443 dgv2e59 1 53352 56150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3333057,esv3353898 M 185 2 0 "" NA19238,NA19240 nsv437859 1 55871 68941 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv471090,nssv469962,nssv468851,nssv471201,nssv471312,nssv470979,nssv467740,nssv471423 M 269 0 8 OR4F5 NA10831,NA10857,NA12044,NA12155,NA18912,NA18914,NA19207,NA19208 dgv3e59 1 56652 58750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3366041,esv3341557,esv3441117 M 185 3 0 "" NA19238,NA19239,NA19240 nsv514929 1 58360 60490 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2866525,nssv2862715,nssv2864991,nssv2858700,nssv2862825,nssv2861378,nssv2866508,nssv2860772,nssv2867544,nssv2858825,nssv2860032,nssv2866245,nssv2861677,nssv2867651,nssv2864238,nssv2862192,nssv2859788,nssv2859644,nssv2864295,nssv2866269,nssv2860178,nssv2859388,nssv2866887,nssv2860971,nssv2861109,nssv2867398,nssv2861262,nssv2864208,nssv2866706,nssv2864968,nssv2868431,nssv2868486,nssv2867418,nssv2860024,nssv2859680,nssv2861190,nssv2868183,nssv2864331,nssv2864815,nssv2862335,nssv2861727,nssv2863165,nssv2864118,nssv2862199,nssv2865611,nssv2863340,nssv2859613,nssv2859496,nssv2865754,nssv2866198,nssv2861598,nssv2868367,nssv2867539,nssv2864949,nssv2864124,nssv2860984,nssv2865753,nssv2864820,nssv2864107,nssv2866178,nssv2866786,nssv2859864,nssv2861708,nssv2861048,nssv2862848,nssv2867664,nssv2863400,nssv2863591,nssv2862869,nssv2866377,nssv2863605,nssv2868005,nssv2860629,nssv2862365,nssv2859331,nssv2862138,nssv2863278,nssv2858788,nssv2867226,nssv2868166,nssv2861692,nssv2862935,nssv2859426,nssv2866470,nssv2861479,nssv2861909,nssv2860077,nssv2864526,nssv2861962,nssv2861660,nssv2864999,nssv2866559,nssv2867567,nssv2864647,nssv2860673,nssv2868137,nssv2863454,nssv2868108,nssv2860212,nssv2862349,nssv2859667,nssv2866214,nssv2861368,nssv2860242,nssv2859048,nssv2862506,nssv2866676,nssv2861611,nssv2865098,nssv2863788,nssv2865034,nssv2863719,nssv2863666,nssv2860563,nssv2864317,nssv2860187,nssv2866371,nssv2860399,nssv2865361,nssv2865011,nssv2865749,nssv2859630,nssv2865937,nssv2859451,nssv2863565,nssv2863379,nssv2860819,nssv2864621,nssv2859105,nssv2863563,nssv2866448,nssv2862629,nssv2859125,nssv2867808,nssv2861540,nssv2864540,nssv2859547,nssv2858735,nssv2864744,nssv2863356,nssv2860422,nssv2865664,nssv2866282,nssv2860682,nssv2859919,nssv2859384,nssv2862492,nssv2866673,nssv2858675,nssv2868000,nssv2863543,nssv2860690,nssv2866257,nssv2860722,nssv2867827,nssv2859022,nssv2864340,nssv2858799,nssv2863524,nssv2867343,nssv2867873,nssv2858896,nssv2864843,nssv2867549,nssv2867504,nssv2867650,nssv2860627,nssv2862970,nssv2867901,nssv2866062,nssv2860782,nssv2864750,nssv2863101,nssv2858575,nssv2865409,nssv2862824,nssv2866480,nssv2864418,nssv2862774,nssv2866655,nssv2864878,nssv2864517,nssv2862096,nssv2866940,nssv2863485,nssv2858768,nssv2864900,nssv2864277,nssv2859079,nssv2860715,nssv2861958,nssv2859822,nssv2865279,nssv2858870,nssv2866593,nssv2860789,nssv2866855,nssv2862796,nssv2863568,nssv2858528,nssv2864356,nssv2860935,nssv2860233,nssv2859914,nssv2865555,nssv2867787,nssv2859204,nssv2858866,nssv2858998,nssv2866252,nssv2860623,nssv2862589,nssv2860343,nssv2864859,nssv2859883,nssv2864514,nssv2865860,nssv2867208,nssv2867410,nssv2864218,nssv2863855,nssv2861308,nssv2859842,nssv2867841,nssv2863257,nssv2858559,nssv2865484,nssv2866045,nssv2863432,nssv2861515,nssv2863237,nssv2862898,nssv2864915,nssv2865735,nssv2859274,nssv2866294,nssv2860704,nssv2865160,nssv2862223,nssv2863993,nssv2865293,nssv2868096,nssv2865417,nssv2864239,nssv2867535,nssv2861561,nssv2859094,nssv2865129,nssv2866234,nssv2862812,nssv2862647,nssv2867616,nssv2863085,nssv2860747,nssv2862633,nssv2864825,nssv2861101,nssv2867263,nssv2859968,nssv2860788,nssv2861183,nssv2867259,nssv2867728,nssv2859290,nssv2867399,nssv2861396,nssv2865284,nssv2864672,nssv2863214,nssv2865957,nssv2865841,nssv2866522,nssv2864864,nssv2866148,nssv2867224,nssv2860020,nssv2862601,nssv2863010,nssv2864246,nssv2862930,nssv2862650,nssv2867485,nssv2862436,nssv2860672,nssv2861250,nssv2863534,nssv2860124,nssv2865669,nssv2863065,nssv2864712,nssv2862006,nssv2862385,nssv2865588,nssv2868419,nssv2860838,nssv2859063,nssv2863089,nssv2865874,nssv2862713,nssv2865947,nssv2860942,nssv2859776,nssv2862087,nssv2865815,nssv2858884,nssv2866359,nssv2868151,nssv2862538,nssv2861172,nssv2862788,nssv2867619,nssv2863617,nssv2862418,nssv2865146,nssv2867078,nssv2860687,nssv2868351,nssv2865369,nssv2860210,nssv2867596,nssv2867142,nssv2861367,nssv2859301,nssv2867781,nssv2867083,nssv2863363,nssv2866507,nssv2863171,nssv2867294,nssv2864020,nssv2859541,nssv2861581,nssv2862159,nssv2867849,nssv2868077,nssv2860951,nssv2863944,nssv2859117,nssv2867498,nssv2863149,nssv2863102,nssv2860335,nssv2865147,nssv2867615,nssv2861512,nssv2867068,nssv2868296,nssv2858755,nssv2860945,nssv2860526,nssv2866382,nssv2866560,nssv2862299,nssv2859104,nssv2860681,nssv2867381,nssv2867452,nssv2863950,nssv2867562,nssv2868423,nssv2860253,nssv2867258,nssv2859489,nssv2863741,nssv2860832,nssv2859693,nssv2864530,nssv2866813,nssv2867969,nssv2863069,nssv2864852,nssv2859934,nssv2868265,nssv2859861,nssv2867088,nssv2859540,nssv2861485,nssv2859712,nssv2860038,nssv2863842,nssv2866078,nssv2860825,nssv2865521,nssv2865964,nssv2860414,nssv2861154,nssv2865040,nssv2859332,nssv2865003,nssv2861240,nssv2868454,nssv2866378,nssv2864123,nssv2858633,nssv2867588,nssv2866610,nssv2862317,nssv2858702,nssv2866438,nssv2862733,nssv2863732,nssv2862690,nssv2867603,nssv2864040,nssv2862501,nssv2866307,nssv2860153,nssv2863459,nssv2858572,nssv2865628,nssv2864983,nssv2867670,nssv2860365,nssv2867174,nssv2866514,nssv2860595,nssv2861553,nssv2862080,nssv2866290,nssv2862036,nssv2867361,nssv2861924,nssv2863393,nssv2859135,nssv2865468,nssv2865827,nssv2865928,nssv2858883,nssv2858644,nssv2859869,nssv2859927,nssv2864910,nssv2865228,nssv2867938,nssv2860333,nssv2861997,nssv2859913,nssv2864702,nssv2868413,nssv2863896,nssv2863475,nssv2862291,nssv2866018,nssv2865665,nssv2865029,nssv2860254,nssv2867462,nssv2863164,nssv2864501,nssv2862868,nssv2859300,nssv2862079,nssv2858941,nssv2866623,nssv2862362,nssv2858615,nssv2861391,nssv2865416,nssv2865513,nssv2863709,nssv2868209,nssv2867681,nssv2866710,nssv2860873,nssv2864873,nssv2865483,nssv2860437,nssv2859448,nssv2864223,nssv2860377,nssv2858540,nssv2861327,nssv2866509,nssv2865168,nssv2865643,nssv2861618,nssv2860286,nssv2862350,nssv2867920,nssv2866778,nssv2864784,nssv2866100,nssv2863552,nssv2867583,nssv2864902,nssv2859964,nssv2862780,nssv2863060 M 2366 488 0 OR4F5 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv544870 1 63065 127315 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707620 M 17421 0 1 LOC729737 nsv945701 1 67745 77947 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749294,nssv1750429,nssv1749271,nssv1749308,nssv1750673,nssv1749296,nssv1749284,nssv1749372,nssv1749269,nssv1750496,nssv1749275,nssv1750551,nssv1749272,nssv1749383,nssv1749282,nssv1749305,nssv1750662,nssv1749438,nssv1749299,nssv1750440,nssv1749273,nssv1749295,nssv1749280,nssv1749450,nssv1749290,nssv1750451,nssv1749288,nssv1749303,nssv1749283,nssv1750540,nssv1749274,nssv1749361,nssv1749285,nssv1749394,nssv1750618,nssv1750518,nssv1750640,nssv1749472,nssv1749302,nssv1749297,nssv1749292,nssv1749405,nssv1749276,nssv1749268,nssv1750695,nssv1749427,nssv1749287,nssv1749483,nssv1749286,nssv1749416,nssv1750629,nssv1750485,nssv1750684,nssv1749350,nssv1749298,nssv1750462,nssv1749277,nssv1750418,nssv1749270,nssv1749315,nssv1750607,nssv1749293,nssv1749291,nssv1749307,nssv1750596,nssv1750507,nssv1750651,nssv1750584,nssv1749281,nssv1750562,nssv1749279,nssv1750573,nssv1749306,nssv1749339,nssv1750529,nssv1749301,nssv1749461,nssv1749326,nssv1750473,nssv1749304 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945702 1 77947 81180 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751730,nssv1751761,nssv1751697,nssv1751771,nssv1751653,nssv1751763,nssv1751708,nssv1751751,nssv1751767,nssv1751746,nssv1751748,nssv1751755,nssv1751757,nssv1751675,nssv1751766,nssv1751760,nssv1751750,nssv1751737,nssv1751741,nssv1751734,nssv1751739,nssv1751770,nssv1751756,nssv1751764,nssv1751742,nssv1751773,nssv1751735,nssv1751740,nssv1751744,nssv1750707,nssv1751686,nssv1751749,nssv1751719,nssv1751747,nssv1751758,nssv1751736,nssv1751762,nssv1751752,nssv1751745,nssv1751753,nssv1751738,nssv1750718,nssv1751769,nssv1751733,nssv1751772,nssv1751664,nssv1751768,nssv1751759 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv161172 1 78053 79016 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179750 M 24 "" nsv945705 1 81180 83468 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571009,nssv2571010,nssv2571000,nssv2570999,nssv2571013,nssv2568030,nssv2571016,nssv2570998,nssv2571001,nssv2571017,nssv2571014,nssv2571012,nssv2571003,nssv2568844,nssv2570995,nssv2568834,nssv2571032,nssv2568842,nssv2568832,nssv2568846,nssv2568837,nssv2568033,nssv2570997,nssv2571043,nssv2571020,nssv2571076,nssv2571005,nssv2571087,nssv2568831,nssv2570993,nssv2571008,nssv2568843,nssv2568031,nssv2568839,nssv2568840,nssv2568035,nssv2568034,nssv2571021,nssv2568830,nssv2571022,nssv2571065,nssv2571122,nssv2571019,nssv2568036,nssv2571004,nssv2568032,nssv2571011,nssv2571006,nssv2568845,nssv2571100,nssv2571002,nssv2571111,nssv2568835,nssv2568836,nssv2568833,nssv2568841,nssv2571015,nssv2570994,nssv2571054,nssv2568838 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945704 1 81180 115263 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751782,nssv1751831,nssv1751792,nssv1751774,nssv1751795,nssv1751845,nssv1751785,nssv1751836,nssv1751860,nssv1751837,nssv1751779,nssv1751830,nssv1751777,nssv1751846,nssv1751856,nssv1751816,nssv1751806,nssv1751847,nssv1751800,nssv1751817,nssv1751798,nssv1751841,nssv1751858,nssv1751822,nssv1751796,nssv1751850,nssv1751780,nssv1751851,nssv1751809,nssv1751805,nssv1751859,nssv1751811,nssv1751784,nssv1751814,nssv1751802,nssv1751829,nssv1751857,nssv1751839,nssv1751853,nssv1751849,nssv1751793,nssv1751803,nssv1751852,nssv1751826,nssv1751778,nssv1751833,nssv1751861,nssv1751824,nssv1751855,nssv1751842,nssv1751783,nssv1751812,nssv1751862,nssv1751834,nssv1751786,nssv1751820,nssv1751791,nssv1751835,nssv1751781,nssv1751815,nssv1751807,nssv1751825,nssv1751775,nssv1751838,nssv1751789,nssv1751801,nssv1751794,nssv1751848,nssv1751790,nssv1751823,nssv1751797,nssv1751804,nssv1751813,nssv1751844,nssv1751819,nssv1751818,nssv1751840,nssv1751827,nssv1751808,nssv1751828 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv4e59 1 81452 88250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3379005,esv3411984 M 185 2 0 "" NA19239,NA19240 nsv945494 1 83468 85300 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2568857,nssv2568900,nssv2568854,nssv2569109,nssv2568850,nssv2568852,nssv2568855,nssv2568861,nssv2569087,nssv2569098,nssv2569032,nssv2569131,nssv2568859,nssv2568878,nssv2568860,nssv2569021,nssv2568864,nssv2568889,nssv2568944,nssv2568933,nssv2568922,nssv2568851,nssv2568858,nssv2569010,nssv2568856,nssv2568847,nssv2569076,nssv2568853,nssv2568868,nssv2568988,nssv2568999,nssv2568849,nssv2568848,nssv2568862,nssv2568966,nssv2570000,nssv2568955,nssv2568865,nssv2569065,nssv2569120,nssv2568977,nssv2569043,nssv2569989,nssv2568867,nssv2568911,nssv2568863,nssv2569054,nssv2569978,nssv2568866 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3436859 1 83752 86350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692418 M 185 1 0 "" NA19238 nsv945495 1 85300 86515 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570099,nssv2571171,nssv2570044,nssv2571178,nssv2570088,nssv2570220,nssv2570132,nssv2570209,nssv2571168,nssv2570264,nssv2571177,nssv2570242,nssv2570011,nssv2570198,nssv2571179,nssv2571173,nssv2570154,nssv2570110,nssv2571169,nssv2570033,nssv2571176,nssv2570187,nssv2570055,nssv2571190,nssv2571181,nssv2571183,nssv2571189,nssv2571185,nssv2571188,nssv2571170,nssv2571180,nssv2571160,nssv2570231,nssv2570253,nssv2570275,nssv2571182,nssv2570066,nssv2570077,nssv2571174,nssv2570165,nssv2571175,nssv2570176,nssv2570022,nssv2571184,nssv2570143,nssv2571187,nssv2571172,nssv2571186,nssv2570121 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945496 1 86515 88612 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571201,nssv2571212,nssv2571194,nssv2571209,nssv2571198,nssv2571206,nssv2571199,nssv2571215,nssv2571227,nssv2571203,nssv2571220,nssv2571208,nssv2571213,nssv2571226,nssv2571210,nssv2571207,nssv2571196,nssv2571221,nssv2571219,nssv2571233,nssv2571214,nssv2571223,nssv2571222,nssv2571236,nssv2571192,nssv2571200,nssv2571239,nssv2571234,nssv2571202,nssv2571191,nssv2571225,nssv2571211,nssv2571235,nssv2571224,nssv2571205,nssv2571238,nssv2571231,nssv2571229,nssv2571228,nssv2571193,nssv2571195,nssv2571232,nssv2571230,nssv2571197,nssv2571237,nssv2571218,nssv2571217,nssv2571216,nssv2571204 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945498 1 88612 95221 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571250,nssv2571260,nssv2571243,nssv2571288,nssv2571247,nssv2571287,nssv2571248,nssv2571253,nssv2571256,nssv2571251,nssv2571261,nssv2571276,nssv2571263,nssv2571272,nssv2571279,nssv2571266,nssv2571283,nssv2571282,nssv2571286,nssv2571270,nssv2571281,nssv2571262,nssv2571285,nssv2571271,nssv2571277,nssv2571284,nssv2571274,nssv2571269,nssv2571259,nssv2571252,nssv2571249,nssv2571275,nssv2571246,nssv2571264,nssv2571273,nssv2571280,nssv2571257,nssv2571255,nssv2571241,nssv2571267,nssv2571278,nssv2571268,nssv2571245,nssv2571258,nssv2571244,nssv2571265,nssv2571242,nssv2571254 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3431809 1 89552 90750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692423 M 185 1 0 "" NA19240 dgv5e59 1 92952 95650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3336840,esv3329998 M 185 2 0 "" NA19239,NA19240 nsv945500 1 95221 110120 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571299,nssv2571350,nssv2571297,nssv2571321,nssv2571292,nssv2571304,nssv2571296,nssv2571331,nssv2571301,nssv2571333,nssv2571330,nssv2571314,nssv2571372,nssv2571319,nssv2571332,nssv2571325,nssv2571295,nssv2571327,nssv2571317,nssv2571324,nssv2571311,nssv2571293,nssv2571309,nssv2571323,nssv2571310,nssv2571305,nssv2571306,nssv2571300,nssv2571361,nssv2571303,nssv2571329,nssv2571328,nssv2571318,nssv2571339,nssv2571322,nssv2571308,nssv2571298,nssv2571315,nssv2571316,nssv2571307,nssv2571302,nssv2571313,nssv2571290,nssv2571326,nssv2571294,nssv2571291,nssv2571320,nssv2571312 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv6e59 1 96652 99050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3349278,esv3427619 M 185 2 0 "" NA19238,NA19239 esv3441565 1 96652 101150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692436 M 185 1 0 "" NA19240 esv3335040 1 99752 101050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692439 M 185 1 0 "" NA19239 nsv945503 1 110120 114388 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572417,nssv2572681,nssv2571460,nssv2572406,nssv2572395,nssv2572593,nssv2571416,nssv2572450,nssv2572461,nssv2572615,nssv2573671,nssv2573770,nssv2572516,nssv2573693,nssv2573638,nssv2573627,nssv2573704,nssv2572670,nssv2572582,nssv2572494,nssv2573660,nssv2571438,nssv2573737,nssv2571449,nssv2572505,nssv2573715,nssv2571427,nssv2572439,nssv2572571,nssv2572428,nssv2572472,nssv2572692,nssv2571394,nssv2572659,nssv2573726,nssv2572483,nssv2573649,nssv2572648,nssv2572527,nssv2571405,nssv2573759,nssv2572560,nssv2572538,nssv2572549,nssv2573748,nssv2572637,nssv2572604,nssv2573682,nssv2572626 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv2n54 1 110905 127537 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544871,nsv544872 M 17421 0 2 LOC729737 nsv544873 1 110905 160593 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707623 M 17421 1 0 LOC729737 nsv945707 1 115263 119106 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573788,nssv2573814,nssv2573802,nssv2573845,nssv2573856,nssv2573844,nssv2573807,nssv2573827,nssv2573803,nssv2573819,nssv2573797,nssv2573838,nssv2573796,nssv2573817,nssv2573853,nssv2573828,nssv2573857,nssv2573826,nssv2573795,nssv2573847,nssv2573798,nssv2573808,nssv2573789,nssv2573835,nssv2573794,nssv2573830,nssv2573787,nssv2573809,nssv2573861,nssv2573834,nssv2573801,nssv2573849,nssv2573804,nssv2573850,nssv2573860,nssv2573822,nssv2573784,nssv2573863,nssv2573858,nssv2573839,nssv2573862,nssv2573840,nssv2573859,nssv2573848,nssv2573792,nssv2573832,nssv2573785,nssv2573851,nssv2573812,nssv2573831,nssv2573786,nssv2573824,nssv2573790,nssv2573781,nssv2573854,nssv2573818,nssv2573805,nssv2573821,nssv2573811,nssv2573841,nssv2573800,nssv2573816,nssv2573855,nssv2573806,nssv2573799,nssv2573837,nssv2573793,nssv2573825,nssv2573791,nssv2573842,nssv2573813,nssv2573823,nssv2573815,nssv2573846,nssv2573843,nssv2573829,nssv2573852,nssv2573810,nssv2573836,nssv2573820,nssv2573833 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945706 1 115263 166847 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751879,nssv1751491,nssv1751875,nssv1751486,nssv1751871,nssv1751490,nssv1751895,nssv1751498,nssv1751877,nssv1751575,nssv1751510,nssv1751520,nssv1751880,nssv1751531,nssv1751508,nssv1751929,nssv1751511,nssv1751896,nssv1751868,nssv1752909,nssv1751506,nssv1751476,nssv1751504,nssv1751502,nssv1751503,nssv1751513,nssv1751870,nssv1752953,nssv1751885,nssv1751482,nssv1751888,nssv1751542,nssv1751509,nssv1751480,nssv1751884,nssv1751951,nssv1751878,nssv1751497,nssv1751890,nssv1751918,nssv1751869,nssv1751499,nssv1751867,nssv1751478,nssv1751866,nssv1751481,nssv1751507,nssv1751495,nssv1751894,nssv1751902,nssv1751864,nssv1751586,nssv1751873,nssv1751477,nssv1751886,nssv1751893,nssv1751881,nssv1751485,nssv1751897,nssv1751907,nssv1751872,nssv1751494,nssv1751512,nssv1751900,nssv1751882,nssv1751597,nssv1751883,nssv1752942,nssv1751505,nssv1751940,nssv1751874,nssv1751488,nssv1751892,nssv1752931,nssv1751500,nssv1751483,nssv1751863,nssv1751564,nssv1751492,nssv1751487,nssv1751903,nssv1751496,nssv1751891,nssv1752964,nssv1751479,nssv1751484,nssv1751501,nssv1752920,nssv1751514,nssv1751493,nssv1751901,nssv1751553,nssv1752887,nssv1751904,nssv1752898,nssv1751489,nssv1751889 M 97 10 0 LOC729737 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945504 1 119106 123365 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574859,nssv2574853,nssv2574865,nssv2574856,nssv2573873,nssv2573912,nssv2573883,nssv2573910,nssv2574866,nssv2573889,nssv2573874,nssv2573911,nssv2574861,nssv2574852,nssv2573876,nssv2573915,nssv2573866,nssv2574854,nssv2573893,nssv2573900,nssv2573880,nssv2573890,nssv2573888,nssv2573922,nssv2573884,nssv2573921,nssv2573878,nssv2573901,nssv2573871,nssv2573918,nssv2573882,nssv2573908,nssv2573892,nssv2573895,nssv2573867,nssv2573906,nssv2573877,nssv2573899,nssv2573868,nssv2573887,nssv2574860,nssv2573909,nssv2574858,nssv2573898,nssv2573879,nssv2573925,nssv2574864,nssv2573920,nssv2573865,nssv2573896,nssv2573870,nssv2573894,nssv2574863,nssv2573927,nssv2574862,nssv2573919,nssv2573872,nssv2573926,nssv2573886,nssv2573864,nssv2573881,nssv2573897,nssv2573885,nssv2573902,nssv2573875,nssv2573914,nssv2574867,nssv2573905,nssv2573869,nssv2574857,nssv2573904,nssv2574855,nssv2573913,nssv2573924,nssv2573903,nssv2573923,nssv2573907,nssv2573916,nssv2573917,nssv2573891 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv991724 1 126044 127189 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586083 M 3 0 1 LOC729737 HuRef esv3357639 1 126152 127350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691773 M 185 1 0 LOC729737 NA19240 nsv8990 1 166125 167223 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv14779 M 31 0 1 "" NA18572 nsv945708 1 217161 225854 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753658,nssv1753631,nssv1752356,nssv1753632,nssv2575119,nssv1753629,nssv1752543,nssv1753577,nssv1752301,nssv1753623,nssv1753665,nssv1753654,nssv2575112,nssv1753522,nssv2575116,nssv1753640,nssv1753661,nssv1752477,nssv1753663,nssv1753626,nssv1753664,nssv1753655,nssv1753662,nssv1753653,nssv1752565,nssv1753671,nssv1752444,nssv1753636,nssv1752334,nssv2575120,nssv1751619,nssv1753566,nssv1752290,nssv1753634,nssv1752455,nssv1752554,nssv1752378,nssv1753675,nssv1753659,nssv1753669,nssv1752389,nssv1753630,nssv1752433,nssv2575111,nssv1752488,nssv1753500,nssv1752466,nssv1753621,nssv1752279,nssv1753652,nssv1752268,nssv1753668,nssv1752323,nssv1753635,nssv1751641,nssv1753624,nssv1752367,nssv1752499,nssv1752400,nssv1753642,nssv1753656,nssv1753637,nssv1753657,nssv2575113,nssv1751630,nssv1753651,nssv1752312,nssv1753646,nssv1753660,nssv1753544,nssv2575117,nssv1753533,nssv1752345,nssv1753628,nssv1752532,nssv1753641,nssv1752411,nssv2575115,nssv1752422,nssv1753673,nssv1753511,nssv1752521,nssv1753625,nssv1753588,nssv1753647,nssv1752510,nssv1753633,nssv1751608,nssv1753644,nssv1753627,nssv1753643,nssv1753670,nssv1753648,nssv2575110,nssv1753649,nssv1753639,nssv1753650,nssv2575114,nssv1753674,nssv1753645,nssv1753672,nssv1753555,nssv1753599,nssv1753638,nssv2575118,nssv1753667,nssv1753666,nssv1753610 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv4n100 1 218557 878522 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000176,nsv998987,nsv1000603,nsv1005920,nsv1010877,nsv998917 M 29084 8 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,MIR6723,NOC2L,OR4F16,OR4F29,OR4F3,SAMD11 dgv7e59 1 219752 228650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3413313,esv3431827,esv3432331 M 185 3 0 "" NA12878,NA19239,NA19240 esv3337205 1 220952 225550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692128 M 185 1 0 "" NA12892 nsv945509 1 225854 229279 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575131,nssv2574771,nssv2575124,nssv2574769,nssv2575129,nssv2574765,nssv2575128,nssv2574787,nssv2574766,nssv2575122,nssv2574784,nssv2574764,nssv2574785,nssv2574772,nssv2574759,nssv2574789,nssv2575132,nssv2574762,nssv2574793,nssv2575130,nssv2574773,nssv2574770,nssv2575125,nssv2574786,nssv2574788,nssv2575127,nssv2574768,nssv2575126,nssv2574776,nssv2574779,nssv2575123,nssv2574794,nssv2574782,nssv2574763,nssv2574760,nssv2574761,nssv2574775,nssv2574790,nssv2574777,nssv2574774,nssv2574781,nssv2574791,nssv2574780,nssv2574767,nssv2574758,nssv2574783,nssv2574792,nssv2574778 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945710 1 229279 231420 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574802,nssv2574796,nssv2574804,nssv2574795,nssv2574797,nssv2574799,nssv2574801,nssv2574803,nssv2574805,nssv2574800,nssv2574798 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945709 1 229279 257704 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753696,nssv1754445,nssv1754577,nssv1753721,nssv1754632,nssv1754456,nssv1754621,nssv1753723,nssv1753677,nssv1753706,nssv1753698,nssv1753752,nssv1753697,nssv1754478,nssv1753694,nssv1753796,nssv1753690,nssv1753774,nssv1754588,nssv1753713,nssv1753693,nssv1753702,nssv1753691,nssv1753712,nssv1753680,nssv1754522,nssv1754643,nssv1753724,nssv1754610,nssv1754511,nssv1754665,nssv1753716,nssv1753678,nssv1754500,nssv1753705,nssv1753676,nssv1753688,nssv1753717,nssv1753707,nssv1754467,nssv1753685,nssv1754423,nssv1753689,nssv1753720,nssv1754566,nssv1753718,nssv1753682,nssv1753730,nssv1754599,nssv1754489,nssv1753695,nssv1753741,nssv1753686,nssv1753722,nssv1753683,nssv1754533,nssv1753679,nssv1753699,nssv1753681,nssv1753763,nssv1754654,nssv1753785,nssv1753684,nssv1753710,nssv1753692,nssv1754434,nssv1753700,nssv1753714,nssv1753704,nssv1753709,nssv1753687,nssv1754544,nssv1754555,nssv1753701,nssv1753719,nssv1753708,nssv1753711,nssv1753715,nssv1753725,nssv1753703 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3424705 1 231152 233450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692166 M 185 1 0 "" NA19240 nsv945510 1 231420 233762 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574814,nssv2575751,nssv2574813,nssv2574815,nssv2574809,nssv2574828,nssv2574816,nssv2574824,nssv2574836,nssv2574840,nssv2574850,nssv2574838,nssv2574835,nssv2574841,nssv2574822,nssv2574839,nssv2574851,nssv2574818,nssv2574811,nssv2574830,nssv2574825,nssv2574821,nssv2574834,nssv2574829,nssv2574808,nssv2575749,nssv2574844,nssv2574831,nssv2574849,nssv2575750,nssv2574826,nssv2574848,nssv2574827,nssv2574846,nssv2574810,nssv2574843,nssv2574807,nssv2574819,nssv2574845,nssv2574842,nssv2574832,nssv2574837,nssv2574847,nssv2574820,nssv2574812,nssv2574823,nssv2574833,nssv2574817 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945513 1 233762 234596 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575762,nssv2575778,nssv2575759,nssv2575790,nssv2575760,nssv2575798,nssv2575755,nssv2575793,nssv2575779,nssv2575797,nssv2575791,nssv2575777,nssv2575787,nssv2575782,nssv2575773,nssv2575784,nssv2575761,nssv2575801,nssv2575799,nssv2575763,nssv2575772,nssv2575767,nssv2575796,nssv2575774,nssv2575795,nssv2575792,nssv2575781,nssv2575785,nssv2575771,nssv2575758,nssv2575764,nssv2575776,nssv2575789,nssv2575800,nssv2575770,nssv2575775,nssv2575780,nssv2575754,nssv2575786,nssv2575788,nssv2575768,nssv2575753,nssv2575766,nssv2575783,nssv2575765,nssv2575756,nssv2575769,nssv2575757,nssv2575794 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945514 1 234596 235648 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575811,nssv2575828,nssv2575808,nssv2575837,nssv2575809,nssv2575834,nssv2575804,nssv2575821,nssv2575845,nssv2575807,nssv2575843,nssv2575838,nssv2575818,nssv2575840,nssv2575813,nssv2575810,nssv2575825,nssv2575823,nssv2575827,nssv2575826,nssv2575802,nssv2575836,nssv2575844,nssv2575822,nssv2575846,nssv2575833,nssv2575847,nssv2575806,nssv2575848,nssv2575839,nssv2575803,nssv2575831,nssv2575814,nssv2575812,nssv2575819,nssv2575817,nssv2575841,nssv2575835,nssv2575842,nssv2575805,nssv2575849,nssv2575816,nssv2575832,nssv2575824,nssv2575820,nssv2575815,nssv2575829,nssv2575830 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3352725 1 234852 237050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692188 M 185 1 0 "" NA19239 esv3390070 1 235552 237150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692193 M 185 1 0 "" NA19240 nsv945516 1 235648 247933 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575860,nssv2575881,nssv2575857,nssv2568292,nssv2575858,nssv2575870,nssv2575853,nssv2575856,nssv2568298,nssv2575869,nssv2575868,nssv2575867,nssv2575866,nssv2568301,nssv2575861,nssv2575852,nssv2575879,nssv2569140,nssv2568294,nssv2568295,nssv2575882,nssv2569139,nssv2575875,nssv2575876,nssv2575855,nssv2575864,nssv2575851,nssv2575874,nssv2575865,nssv2575878,nssv2569138,nssv2575854,nssv2568296,nssv2568293,nssv2575880,nssv2575871,nssv2568300,nssv2575862,nssv2568291,nssv2575877,nssv2569141,nssv2575883,nssv2568297,nssv2575859,nssv2568299,nssv2575863,nssv2575872,nssv2575873 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3416780 1 239352 241450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692195 M 185 1 0 "" NA19239 esv3413391 1 239352 244050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692196 M 185 1 0 "" NA19240 esv3347825 1 240152 241450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692199 M 185 1 0 "" NA19238 esv3381085 1 241952 245250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692200 M 185 1 0 "" NA19239 esv3405973 1 242052 243950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692201 M 185 1 0 "" NA19238 nsv945517 1 247933 257704 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569152,nssv2569167,nssv2569149,nssv2569174,nssv2569150,nssv2569189,nssv2569145,nssv2569186,nssv2569160,nssv2569182,nssv2569168,nssv2569184,nssv2569143,nssv2569155,nssv2569146,nssv2569157,nssv2569163,nssv2569171,nssv2569148,nssv2569165,nssv2569144,nssv2569170,nssv2569153,nssv2569175,nssv2569179,nssv2569176,nssv2569187,nssv2569180,nssv2569164,nssv2569178,nssv2569166,nssv2569177,nssv2569156,nssv2569154,nssv2569169,nssv2569172,nssv2569185,nssv2569173,nssv2569147,nssv2569161,nssv2569181,nssv2569142,nssv2569159,nssv2569162,nssv2569190,nssv2569158,nssv2569183,nssv2569151,nssv2569188 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945712 1 307204 327563 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755983,nssv1755994,nssv1756035,nssv1755988,nssv1755891,nssv1756011,nssv1754698,nssv1756007,nssv1755974,nssv1756026,nssv1754687,nssv1756047,nssv1755980,nssv1756023,nssv1755981,nssv1756004,nssv1756033,nssv1756002,nssv1756037,nssv1756005,nssv1755902,nssv1755987,nssv1756030,nssv1756013,nssv1755847,nssv1755985,nssv1755825,nssv1756020,nssv1755976,nssv1755997,nssv1756036,nssv1755982,nssv1756034,nssv1756044,nssv1755869,nssv1756024,nssv1755946,nssv1755979,nssv1755913,nssv1756028,nssv1755968,nssv1756045,nssv1755858,nssv1756015,nssv1755924,nssv1755996,nssv1754709,nssv1756039,nssv1755814,nssv1756042,nssv1756031,nssv1755975,nssv1755957,nssv1756040,nssv1756029,nssv1756021,nssv1755792,nssv1756043,nssv1756038,nssv1755989,nssv1756032,nssv1756025,nssv1755803,nssv1756009,nssv1755880,nssv1756006,nssv1755935,nssv1756003,nssv1755836,nssv1756001,nssv1754720,nssv1755998,nssv1756022,nssv1754676,nssv1756018,nssv1755995,nssv1756046,nssv1756010,nssv1756027,nssv1756041,nssv1755978,nssv1756012,nssv1756008,nssv1755984,nssv1756019,nssv1756017,nssv1756048,nssv1755999,nssv1756000,nssv1755986,nssv1756014,nssv1755991,nssv1756016,nssv1755992,nssv1755990,nssv1755993,nssv1755977 M 97 10 0 LOC100132062,LOC100132287,LOC100133331 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv428223 1 307583 461231 CNV gain+loss Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv450575,nssv450686 M 62 1 1 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 HGDP00984,NA18498 esv27883 1 307633 461200 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv13367,esv9873,esv15703,esv17876,esv13800,esv10639,esv15785,esv20387,esv20401,esv16611,esv14573 M 40 13 17 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11894,NA11993,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225 nsv829647 1 307737 415038 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441517,nssv1441518,nssv1442628,nssv1447072,nssv1448183,nssv1444850,nssv1443739,nssv1450405,nssv1441629,nssv1449294,nssv1445961 M 95 1 10 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 nsv471518 1 308002 460787 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv547888,nssv547887,nssv547890 M 3 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 JDW,NA18507,YH dgv1n14 1 311662 456464 CNV gain Cooper_et_al_2008 18776910 SNP array nsv433342,nsv433345,nsv433344 M 9 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA12156,NA18555,NA19240 nsv945519 1 321543 323952 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569292,nssv2569298,nssv2569263,nssv2569295,nssv2569277,nssv2569231,nssv2569246,nssv2569300,nssv2569272,nssv2569242,nssv2569262,nssv2569252,nssv2569276,nssv2569244,nssv2569259,nssv2569237,nssv2569291,nssv2569294,nssv2569283,nssv2569229,nssv2569274,nssv2569245,nssv2569270,nssv2569236,nssv2569273,nssv2569235,nssv2569271,nssv2569241,nssv2569253,nssv2569234,nssv2569267,nssv2569251,nssv2569249,nssv2569230,nssv2569266,nssv2569247,nssv2569223,nssv2569238,nssv2569275,nssv2569239,nssv2569279,nssv2569227,nssv2569288,nssv2569233,nssv2569260,nssv2569240,nssv2569280,nssv2569301,nssv2569250,nssv2569224,nssv2569254,nssv2569296,nssv2569285,nssv2569302,nssv2569269,nssv2569228,nssv2569264,nssv2569225,nssv2569258,nssv2569226,nssv2569284,nssv2569243,nssv2569265,nssv2569232,nssv2569261,nssv2569299,nssv2569248,nssv2569297,nssv2569268,nssv2569293,nssv2569256,nssv2569281,nssv2569290,nssv2569257,nssv2569286,nssv2569282,nssv2569255,nssv2569289,nssv2569278,nssv2569287 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945520 1 323952 327563 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569306,nssv2569356,nssv2569380,nssv2569359,nssv2569320,nssv2569361,nssv2569379,nssv2569370,nssv2569317,nssv2569346,nssv2569383,nssv2569372,nssv2569316,nssv2569355,nssv2569323,nssv2569373,nssv2569310,nssv2569371,nssv2569313,nssv2569344,nssv2569376,nssv2569348,nssv2569324,nssv2569304,nssv2569321,nssv2569352,nssv2569381,nssv2569362,nssv2569314,nssv2569368,nssv2569319,nssv2569349,nssv2569374,nssv2569327,nssv2569332,nssv2569345,nssv2569322,nssv2569366,nssv2569326,nssv2569335,nssv2569308,nssv2569358,nssv2569378,nssv2569339,nssv2569307,nssv2569340,nssv2569311,nssv2569343,nssv2569377,nssv2569330,nssv2569375,nssv2569353,nssv2569325,nssv2569331,nssv2569318,nssv2569360,nssv2569305,nssv2569341,nssv2569312,nssv2569334,nssv2569328,nssv2569365,nssv2569315,nssv2569357,nssv2569333,nssv2569337,nssv2569309,nssv2569347,nssv2569382,nssv2569369,nssv2569351,nssv2569367,nssv2569338,nssv2569329,nssv2569354,nssv2569364,nssv2569350,nssv2569303,nssv2569336,nssv2569342,nssv2569363 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945713 1 327563 342169 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756053,nssv1756418,nssv1756061,nssv1756424,nssv1756063,nssv1756404,nssv1756060,nssv1756415,nssv1756071,nssv1756402,nssv1756067,nssv1756087,nssv1756077,nssv1756425,nssv1756431,nssv1756409,nssv1756433,nssv1756090,nssv1756062,nssv1756049,nssv1756065,nssv1756083,nssv1756050,nssv1756088,nssv1756427,nssv1756410,nssv1756052,nssv1756075,nssv1756434,nssv1756420,nssv1756432,nssv1756426,nssv1756073,nssv1756072,nssv1756070,nssv1756412,nssv1756080,nssv1756079,nssv1756059,nssv1756413,nssv1756055,nssv1756091,nssv1756058,nssv1756423,nssv1756066,nssv1756084,nssv1756068,nssv1756074,nssv1756064,nssv1756406,nssv1756056,nssv1756422,nssv1756429,nssv1756403,nssv1756069,nssv1756401,nssv1756051,nssv1756082,nssv1756436,nssv1756416,nssv1756054,nssv1756417,nssv1756078,nssv1756421,nssv1756430,nssv1756076,nssv1756435,nssv1756414,nssv1756057,nssv1756411,nssv1756428,nssv1756407,nssv1756089,nssv1756419,nssv1756408,nssv1756086,nssv1756081,nssv1756092,nssv1756405,nssv1756085 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945521 1 330221 332525 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569386,nssv2569394,nssv2569393,nssv2569402,nssv2569391,nssv2569409,nssv2569390,nssv2569387,nssv2569404,nssv2569389,nssv2569413,nssv2569425,nssv2569421,nssv2569415,nssv2569422,nssv2569407,nssv2569388,nssv2569400,nssv2569414,nssv2569426,nssv2569420,nssv2569392,nssv2569410,nssv2569432,nssv2569396,nssv2569395,nssv2569416,nssv2569431,nssv2569427,nssv2569428,nssv2569406,nssv2569408,nssv2569429,nssv2569418,nssv2569384,nssv2569397,nssv2569423,nssv2569403,nssv2569399,nssv2569417,nssv2569424,nssv2569385,nssv2569398,nssv2569411,nssv2569430,nssv2569419,nssv2569405,nssv2569412,nssv2569401 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945524 1 332525 333025 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569445,nssv2569440,nssv2570528,nssv2569435,nssv2570529,nssv2569439,nssv2570551,nssv2570553,nssv2570561,nssv2570567,nssv2570554,nssv2569436,nssv2570530,nssv2570522,nssv2570563,nssv2569434,nssv2570558,nssv2570533,nssv2569441,nssv2570552,nssv2570550,nssv2569443,nssv2570526,nssv2570560,nssv2570555,nssv2570527,nssv2570523,nssv2570559,nssv2570566,nssv2570562,nssv2570557,nssv2570525,nssv2570535,nssv2570536,nssv2569438,nssv2570532,nssv2570564,nssv2570534,nssv2569442,nssv2570524,nssv2570531,nssv2570565,nssv2569433,nssv2570537,nssv2569444,nssv2569437,nssv2570538,nssv2570556 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945525 1 333025 342169 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570547,nssv2571473,nssv2570546,nssv2571469,nssv2570542,nssv2571467,nssv2571492,nssv2570543,nssv2571472,nssv2571464,nssv2571481,nssv2571500,nssv2570544,nssv2570549,nssv2571489,nssv2571478,nssv2571470,nssv2571491,nssv2571499,nssv2571486,nssv2571501,nssv2571485,nssv2571494,nssv2571479,nssv2571498,nssv2571474,nssv2571480,nssv2571497,nssv2570548,nssv2571490,nssv2570540,nssv2571495,nssv2571465,nssv2571496,nssv2571484,nssv2571471,nssv2571487,nssv2571477,nssv2570545,nssv2571493,nssv2570541,nssv2571475,nssv2571488,nssv2571483,nssv2571468,nssv2571476,nssv2571466,nssv2571482 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv10050 1 337955 631462 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv18118,nssv18107,nssv24620,nssv26902,nssv24618,nssv18121,nssv18115,nssv18094,nssv14769,nssv21443,nssv18112,nssv18105,nssv14767,nssv21426,nssv21441,nssv21435,nssv18102,nssv18101,nssv18116,nssv21439,nssv21450,nssv26886,nssv24614,nssv18120,nssv18111,nssv24595,nssv21447,nssv18099,nssv18119,nssv28054,nssv24604,nssv21446,nssv21433,nssv18106,nssv18095,nssv18092,nssv18110,nssv26896,nssv18100,nssv18104,nssv18098,nssv18114,nssv24606,nssv21449,nssv14778,nssv21424,nssv24612,nssv24597,nssv18096,nssv24594,nssv14765,nssv18109 M 31 8 30 MIR6723,OR4F16,OR4F29,OR4F3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv945265 1 342169 361602 OTHER complex Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1679650,nssv1756446,nssv1677687,nssv1756463,nssv1677742,nssv1679594,nssv1677709,nssv1756442,nssv1677642,nssv1756473,nssv1686360,nssv1756477,nssv1683216,nssv1756482,nssv1679661,nssv1756449,nssv1684709,nssv1756454,nssv1677754,nssv1756483,nssv1679639,nssv1682067,nssv1679628,nssv1756453,nssv1679627,nssv1756467,nssv1679672,nssv1756476,nssv1756443,nssv1680921,nssv1677665,nssv1756451,nssv1677731,nssv1756478,nssv1682237,nssv1679775,nssv1677641,nssv1756468,nssv1677720,nssv1756447,nssv1677753,nssv1756484,nssv1684698,nssv1756440,nssv1679705,nssv1756455,nssv1679716,nssv1756481,nssv1677676,nssv1756437,nssv1756439,nssv1756464,nssv1677698,nssv1679492,nssv1679694,nssv1756457,nssv1679616,nssv1679073,nssv1756444,nssv1756458,nssv1677643,nssv1677927,nssv1677765,nssv1682178,nssv1679738,nssv1756445,nssv1679683,nssv1679761,nssv1677654,nssv1756469,nssv1756462,nssv1679727,nssv1677816,nssv1756460,nssv1756480,nssv1756470,nssv1756461,nssv1756471,nssv1681956,nssv1756474,nssv1756452,nssv1756448,nssv1679739,nssv1756450,nssv1756475,nssv1756459,nssv1756472,nssv1756479,nssv1756456,nssv1678962,nssv1756465,nssv1680810,nssv1756441,nssv1679605,nssv1679750,nssv1756438,nssv1756466 M 97 10 0 OR4F16,OR4F29,OR4F3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv5n100 1 346294 1039667 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002919,nsv1008043 M 29084 2 0 AGRN,C1orf159,C1orf170,FAM41C,FAM87B,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC100133331,LOC100288069,MIR6723,NOC2L,OR4F16,OR4F29,OR4F3,PLEKHN1,RNF223,SAMD11 nsv514924 1 356912 358042 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2859918,nssv2861430,nssv2859521,nssv2866575,nssv2864797,nssv2862220,nssv2866662,nssv2862379,nssv2860015,nssv2862117,nssv2862685,nssv2862348,nssv2860775,nssv2867889,nssv2863469,nssv2860896,nssv2863429,nssv2865079,nssv2866517,nssv2862673,nssv2864835,nssv2866478,nssv2863551,nssv2862208,nssv2860354,nssv2867250,nssv2864967,nssv2864877,nssv2860603,nssv2859557,nssv2861053,nssv2867661,nssv2866175,nssv2862207,nssv2865606,nssv2867319,nssv2861234,nssv2858625,nssv2859402,nssv2859187,nssv2866044,nssv2864035,nssv2863225,nssv2865195,nssv2861656,nssv2863997,nssv2862828,nssv2862565,nssv2862784,nssv2863452,nssv2866540,nssv2866054,nssv2861519,nssv2861957,nssv2864276,nssv2866347,nssv2866340,nssv2866779,nssv2865221,nssv2862740,nssv2864960,nssv2860916,nssv2866864,nssv2867206,nssv2860830,nssv2860882,nssv2867570,nssv2866251,nssv2866973,nssv2862975,nssv2864160,nssv2866126,nssv2859293,nssv2862512,nssv2868325,nssv2862194,nssv2863347,nssv2863532,nssv2864149,nssv2858909,nssv2862541,nssv2862545,nssv2860284,nssv2861414,nssv2858809,nssv2858632,nssv2863412,nssv2866752,nssv2867595,nssv2862420,nssv2865175,nssv2868253,nssv2866686,nssv2861953,nssv2861967,nssv2861881,nssv2866632,nssv2859792,nssv2864941,nssv2862494,nssv2860276,nssv2866598,nssv2865338,nssv2862714,nssv2861837,nssv2862493,nssv2860512,nssv2862500,nssv2864782,nssv2867004,nssv2865996,nssv2865663,nssv2861345,nssv2867200,nssv2861639,nssv2859894,nssv2858843,nssv2866581,nssv2863561,nssv2860753,nssv2864719,nssv2858659,nssv2866835,nssv2867671,nssv2866637,nssv2862363,nssv2861926,nssv2862897,nssv2866883,nssv2867752,nssv2868182,nssv2864103,nssv2862554,nssv2863369,nssv2859497,nssv2865633,nssv2859989,nssv2866982,nssv2862417,nssv2864997,nssv2858904,nssv2863885,nssv2864925,nssv2868158,nssv2859039,nssv2858631,nssv2861737,nssv2865461,nssv2861858,nssv2858963,nssv2864216,nssv2866661,nssv2861150,nssv2866012,nssv2863835,nssv2863290,nssv2862783,nssv2866532,nssv2859498,nssv2866554,nssv2863163,nssv2858945,nssv2858724,nssv2864546,nssv2863508,nssv2863949,nssv2866547,nssv2863820,nssv2860049,nssv2864567,nssv2861599,nssv2858824,nssv2867757,nssv2864598,nssv2866132,nssv2863813,nssv2865436,nssv2866447,nssv2865553,nssv2864759,nssv2859078,nssv2862441,nssv2862367,nssv2862285,nssv2860769,nssv2865836,nssv2861593,nssv2860480,nssv2859248,nssv2859623,nssv2863100,nssv2867383,nssv2866346,nssv2864063,nssv2863049,nssv2858933,nssv2860934,nssv2861874,nssv2864857,nssv2867737,nssv2865057,nssv2866878,nssv2864695,nssv2862815,nssv2862754,nssv2860416,nssv2859697,nssv2863806,nssv2860621,nssv2860534,nssv2866048,nssv2860240,nssv2865846,nssv2859345,nssv2862927,nssv2859398,nssv2866764,nssv2859879,nssv2859254,nssv2863812,nssv2858723,nssv2859890,nssv2861928,nssv2866984,nssv2864408,nssv2865207,nssv2862258,nssv2867382,nssv2860674,nssv2858950,nssv2864758,nssv2866121,nssv2867543,nssv2859837,nssv2859933,nssv2864577,nssv2865946,nssv2864217,nssv2867890,nssv2866422,nssv2864578,nssv2868254,nssv2863983,nssv2859280,nssv2867689,nssv2867598,nssv2862284,nssv2866971,nssv2860382,nssv2865435,nssv2865659,nssv2865550,nssv2867930,nssv2862123,nssv2861241,nssv2860657,nssv2862921,nssv2867390,nssv2858495,nssv2863335,nssv2868309,nssv2867490,nssv2866061,nssv2864736,nssv2862593,nssv2864353,nssv2863943,nssv2862400,nssv2861157,nssv2860353,nssv2862168,nssv2864615,nssv2863615,nssv2865821,nssv2863516,nssv2859034,nssv2860428,nssv2860438,nssv2861826,nssv2867293,nssv2861853,nssv2862808,nssv2867303,nssv2864259,nssv2862765,nssv2861784,nssv2867947,nssv2863346,nssv2859457,nssv2865956,nssv2859691,nssv2866687,nssv2868231,nssv2865173,nssv2862600,nssv2861542,nssv2863901,nssv2867834,nssv2868361,nssv2866831,nssv2866565,nssv2860372,nssv2864671,nssv2866555,nssv2866853,nssv2864777,nssv2858797,nssv2866409,nssv2865554,nssv2859860,nssv2860871,nssv2859526,nssv2861413,nssv2865583,nssv2866668,nssv2863759,nssv2859361,nssv2864195,nssv2867933,nssv2866209,nssv2861045,nssv2859091,nssv2862976,nssv2867072,nssv2867103,nssv2859791,nssv2867973,nssv2866972,nssv2865277,nssv2863224,nssv2867218,nssv2864823,nssv2861167,nssv2862029,nssv2861002,nssv2860554,nssv2863821,nssv2864233,nssv2861518,nssv2862147,nssv2862326,nssv2864316,nssv2861299,nssv2862141,nssv2866556,nssv2864388,nssv2862009,nssv2862460,nssv2867249,nssv2859368,nssv2868474,nssv2858699,nssv2865437,nssv2866840,nssv2864990,nssv2863170,nssv2859077,nssv2864604,nssv2867682,nssv2863731,nssv2860592,nssv2860469,nssv2864173,nssv2862988,nssv2860771,nssv2866856,nssv2866797,nssv2864389,nssv2862841,nssv2866708,nssv2864045,nssv2867749,nssv2858819,nssv2859275,nssv2864044,nssv2864440,nssv2867774,nssv2864064,nssv2858554,nssv2865414,nssv2862030,nssv2863203,nssv2868031,nssv2858519,nssv2864909,nssv2859221,nssv2866751,nssv2866548,nssv2861022,nssv2866264,nssv2868243,nssv2864018,nssv2865093,nssv2862180,nssv2865808,nssv2862660,nssv2866683,nssv2864976,nssv2865396,nssv2866203,nssv2860982,nssv2866265,nssv2860915,nssv2861562,nssv2862722,nssv2861583,nssv2868339,nssv2862091,nssv2866798,nssv2862469,nssv2868103,nssv2861018,nssv2866104,nssv2866094,nssv2860388,nssv2861438,nssv2866195,nssv2860808,nssv2864280,nssv2859548,nssv2866867,nssv2861803,nssv2862985,nssv2867047,nssv2868492,nssv2862596,nssv2865136,nssv2860415,nssv2859401,nssv2863496,nssv2863590,nssv2865056,nssv2858648,nssv2867457,nssv2866977,nssv2866039,nssv2860347,nssv2866240,nssv2863873,nssv2866652,nssv2863998,nssv2864957,nssv2864260,nssv2862059,nssv2864885,nssv2860550,nssv2864368,nssv2867027,nssv2864528,nssv2864032,nssv2864400,nssv2862759,nssv2859917,nssv2864057,nssv2861377,nssv2866645,nssv2862008,nssv2862024,nssv2865200,nssv2862431,nssv2867451,nssv2860091,nssv2866970,nssv2864179,nssv2868006,nssv2864966,nssv2864268,nssv2859106,nssv2863502,nssv2862035,nssv2861893,nssv2860628,nssv2860829,nssv2859168,nssv2859326,nssv2867020,nssv2864374,nssv2864905,nssv2865025,nssv2862953,nssv2861944,nssv2862314,nssv2863474,nssv2859993,nssv2863643,nssv2867487,nssv2865032,nssv2864914 M 2366 488 0 OR4F16,OR4F29,OR4F3 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv945715 1 361602 425245 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756514,nssv1756517,nssv1756502,nssv1756535,nssv1756491,nssv1756523,nssv1755723,nssv1756511,nssv1756494,nssv1756508,nssv1756507,nssv1756538,nssv1756503,nssv1756532,nssv1756500,nssv1756521,nssv1756513,nssv1756522,nssv1756488,nssv1756543,nssv1756486,nssv1756520,nssv1755727,nssv1756519,nssv1756493,nssv1756552,nssv1755729,nssv1756536,nssv1756497,nssv1756533,nssv1756498,nssv1756547,nssv1755724,nssv1756539,nssv1756489,nssv1756553,nssv1756496,nssv1756537,nssv1756499,nssv1756485,nssv1756509,nssv1756548,nssv1756506,nssv1756551,nssv1756487,nssv1756524,nssv1755730,nssv1756546,nssv1755726,nssv1756527,nssv1756504,nssv1756549,nssv1755731,nssv1756525,nssv1755725,nssv1756544,nssv1756492,nssv1756515,nssv1756501,nssv1756510,nssv1755728,nssv1756541,nssv1756490,nssv1756550,nssv1756495,nssv1756512,nssv1755722,nssv1756545,nssv1756505,nssv1756531,nssv1756516,nssv1756526,nssv1756530,nssv1756540,nssv1755721,nssv1756542,nssv1756534,nssv1756529,nssv1756518,nssv1756528 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv544874 1 368868 444511 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707624 M 17421 0 1 "" esv3438382 1 375652 376550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692318 M 185 1 0 "" NA19239 nsv945527 1 387744 399328 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571513,nssv2571528,nssv2571511,nssv2571547,nssv2571510,nssv2571523,nssv2571506,nssv2571548,nssv2571517,nssv2571551,nssv2571531,nssv2571522,nssv2571542,nssv2571550,nssv2571544,nssv2571534,nssv2571545,nssv2571516,nssv2571546,nssv2571518,nssv2571509,nssv2571539,nssv2571533,nssv2571532,nssv2571530,nssv2571525,nssv2571536,nssv2571540,nssv2571520,nssv2571504,nssv2571524,nssv2571541,nssv2571543,nssv2571537,nssv2571507,nssv2571538,nssv2571519,nssv2571529,nssv2571515,nssv2571527,nssv2571549,nssv2571514,nssv2571508,nssv2571505,nssv2571526,nssv2571535,nssv2571521,nssv2571512 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945528 1 399328 403398 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571555,nssv2571578,nssv2571559,nssv2571552,nssv2571560,nssv2571569,nssv2571562,nssv2571564,nssv2571553,nssv2571587,nssv2571586,nssv2571591,nssv2571598,nssv2571576,nssv2571597,nssv2571566,nssv2571599,nssv2571558,nssv2571579,nssv2571580,nssv2571594,nssv2571583,nssv2571556,nssv2571585,nssv2571571,nssv2571573,nssv2571563,nssv2571574,nssv2571593,nssv2571572,nssv2571595,nssv2571592,nssv2571561,nssv2571575,nssv2571589,nssv2571565,nssv2571584,nssv2571568,nssv2571577,nssv2571590,nssv2571582,nssv2571557,nssv2571600,nssv2571588,nssv2571570,nssv2571581,nssv2571596,nssv2571567,nssv2571554 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3359178 1 399852 403750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692323 M 185 1 0 "" NA12878 nsv945529 1 403398 405777 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571611,nssv2571636,nssv2571609,nssv2571618,nssv2571608,nssv2571622,nssv2571604,nssv2571607,nssv2571613,nssv2571634,nssv2571639,nssv2571647,nssv2571633,nssv2571632,nssv2571646,nssv2571640,nssv2571610,nssv2571648,nssv2571614,nssv2571619,nssv2571615,nssv2571601,nssv2571635,nssv2571628,nssv2571616,nssv2571637,nssv2571644,nssv2571617,nssv2571605,nssv2571626,nssv2571621,nssv2571612,nssv2571629,nssv2571643,nssv2571645,nssv2571625,nssv2571638,nssv2571627,nssv2571641,nssv2571623,nssv2571620,nssv2571631,nssv2571630,nssv2571606,nssv2571642,nssv2571624,nssv2571602,nssv2571649,nssv2571603 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945530 1 405777 410251 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571659,nssv2571651,nssv2571656,nssv2571655,nssv2571657,nssv2571653,nssv2571652,nssv2571658,nssv2571650,nssv2571660,nssv2571654 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945532 1 410251 412695 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571671,nssv2571665,nssv2571668,nssv2571667,nssv2571664,nssv2571662,nssv2571669,nssv2571670,nssv2571672,nssv2571666,nssv2571663 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945533 1 412695 414148 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571683,nssv2571675,nssv2571676,nssv2571674,nssv2571680,nssv2571677,nssv2571681,nssv2571682,nssv2571679,nssv2571673,nssv2571684,nssv2571678 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945535 1 414148 415913 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571694,nssv2571685,nssv2571691,nssv2571689,nssv2571692,nssv2571690,nssv2571687,nssv2571688,nssv2571693,nssv2571696,nssv2571695,nssv2571686 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3444251 1 414952 417550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692326 M 185 1 0 "" NA12878 esv3416681 1 414952 419350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692327 M 185 1 0 "" NA19238 nsv945536 1 415913 416917 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571706,nssv2571701,nssv2571703,nssv2571698,nssv2571704,nssv2571700,nssv2571699,nssv2571708,nssv2571697,nssv2571705,nssv2571702,nssv2571707 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945537 1 416917 425245 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571718,nssv2571710,nssv2571711,nssv2571712,nssv2571715,nssv2571720,nssv2571716,nssv2571714,nssv2571713,nssv2571709,nssv2571719,nssv2571717 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3347881 1 420852 422350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692334 M 185 1 0 "" NA12878 nsv945539 1 425245 428551 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571730,nssv2571725,nssv2571723,nssv2571721,nssv2571727,nssv2571726,nssv2571728,nssv2571729,nssv2571724,nssv2571722,nssv2571731 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv994970 1 426592 450877 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586250 M 3 0 1 "" HuRef nsv945716 1 428551 449807 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755738,nssv1755742,nssv1755734,nssv1755733,nssv1755741,nssv1755735,nssv1755739,nssv1755736,nssv1755732,nssv1755737,nssv1755740 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3391927 1 440752 442250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692342 M 185 1 0 "" NA19238 esv3426596 1 440752 443450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692343 M 185 1 0 "" NA19240 esv3334942 1 440852 446950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692344 M 185 1 0 "" NA19239 esv3410685 1 446152 449550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692345 M 185 1 0 "" NA12878 nsv945717 1 449807 453503 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755749,nssv1748171,nssv1755745,nssv1755782,nssv1755752,nssv1755769,nssv1755750,nssv1755768,nssv1755778,nssv1755747,nssv1755772,nssv1748175,nssv1755783,nssv1755760,nssv1755770,nssv1755755,nssv1755744,nssv1755753,nssv1755779,nssv1755759,nssv1755775,nssv1748170,nssv1755761,nssv1748172,nssv1748173,nssv1755777,nssv1755766,nssv1755763,nssv1755743,nssv1755746,nssv1755771,nssv1755774,nssv1755764,nssv1755762,nssv1755773,nssv1755756,nssv1755757,nssv1748174,nssv1755781,nssv1755767,nssv1755748,nssv1755780,nssv1755776,nssv1755754,nssv1755758,nssv1755784,nssv1755765,nssv1755751 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv8e59 1 450552 461150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3445983,esv3381255 M 185 2 0 "" NA12878,NA12892 esv3419296 1 450652 451650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692347 M 185 1 0 "" NA19238 esv1004360 1 450924 461231 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586709 M 3 1 0 "" HuRef nsv945718 1 453503 461453 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1748254,nssv1748216,nssv1748200,nssv2571734,nssv1748255,nssv1748241,nssv1748253,nssv1748229,nssv1748191,nssv1748222,nssv2571742,nssv1748217,nssv1748189,nssv1748235,nssv1748178,nssv1749498,nssv1749488,nssv1748237,nssv1748190,nssv1748249,nssv1748195,nssv1748218,nssv1748181,nssv1749501,nssv1748192,nssv1748219,nssv2571735,nssv1748238,nssv1749489,nssv1748248,nssv1748207,nssv1748231,nssv1748205,nssv1748236,nssv2571739,nssv1748239,nssv1749494,nssv1748203,nssv2571740,nssv1748214,nssv1748194,nssv2571733,nssv1748177,nssv1749496,nssv1748184,nssv1748212,nssv1748188,nssv2571743,nssv1748187,nssv1748251,nssv1748193,nssv1748213,nssv1748185,nssv1748221,nssv1749491,nssv1748245,nssv1748197,nssv1748228,nssv1749493,nssv1748208,nssv1748183,nssv1748230,nssv1749492,nssv1748223,nssv1748182,nssv1748240,nssv1748179,nssv1749502,nssv1748180,nssv1749499,nssv1748196,nssv1749504,nssv1748204,nssv2571738,nssv1748198,nssv2571736,nssv1749490,nssv1748227,nssv1748186,nssv1748215,nssv1748250,nssv1749500,nssv1749497,nssv1748176,nssv1749495,nssv1748232,nssv2571737,nssv1748242,nssv1748220,nssv1748224,nssv1749503,nssv2571741,nssv1748233,nssv1748234,nssv1748243,nssv1748199,nssv1748209,nssv1748201,nssv1748246,nssv1748225,nssv1748211,nssv1748247,nssv1748252,nssv1748206,nssv1748244,nssv1748210,nssv1748226,nssv1748202 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv2n82 1 510953 513613 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nsv945540,nsv945719 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv21732 1 511276 713934 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv10580,esv20880,esv17670,esv12770,esv12525,esv19173,esv17284,esv18879,esv17045,esv19351,esv18811,esv17998,esv17928,esv16417 M 40 23 16 LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 NA06985,NA07037,NA07045,NA11894,NA11993,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 esv992503 1 511321 537742 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586722 M 3 0 1 "" HuRef nsv471522 1 512002 746646 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv547898,nssv547899,nssv547897 M 3 3 0 FAM87B,LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 JDW,NA18507,YH nsv945721 1 513613 519674 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571766,nssv2571767,nssv2571763,nssv2571761,nssv2571764,nssv2571762,nssv2571759,nssv2571758,nssv2571757,nssv2571765,nssv2571756,nssv2571760 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945720 1 513613 536247 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749555,nssv1749553,nssv1749562,nssv1749563,nssv1749560,nssv1749554,nssv1749559,nssv1749561,nssv1749558,nssv1749557,nssv1749556 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3444717 1 519352 524650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692356 M 185 1 0 "" NA19238 esv3324015 1 521352 522250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692357 M 185 1 0 "" NA12878 dgv9e59 1 522952 524050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3442814,esv3367382 M 185 2 0 "" NA19239,NA19240 nsv830758 1 529118 646613 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441851,nssv1442073,nssv1442295,nssv1442517,nssv1441740,nssv1442406,nssv1442184,nssv1441962 M 95 0 8 MIR6723,OR4F16,OR4F29,OR4F3 esv3350472 1 534352 536050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692365 M 185 1 0 "" NA12878 nsv544875 1 534829 559467 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707625 M 17421 1 0 MIR6723 nsv945723 1 536247 539210 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573010,nssv2571770,nssv2573007,nssv2573009,nssv2573008,nssv2573005,nssv2571771,nssv2571769,nssv2573006,nssv2573004,nssv2573011 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945722 1 536247 553759 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749642,nssv1749587,nssv1749566,nssv1749624,nssv1749568,nssv1749589,nssv1749574,nssv1749611,nssv1749585,nssv1749602,nssv1749588,nssv1749619,nssv1749637,nssv1749598,nssv1749575,nssv1749601,nssv1749595,nssv1749618,nssv1749579,nssv1749564,nssv1749569,nssv1749627,nssv1749638,nssv1749622,nssv1749583,nssv1749629,nssv1749634,nssv1749631,nssv1749584,nssv1749621,nssv1749565,nssv1749615,nssv1749580,nssv1749632,nssv1749578,nssv1749620,nssv1749576,nssv1749610,nssv1749639,nssv1749630,nssv1749643,nssv1749614,nssv1749577,nssv1749604,nssv1749640,nssv1749605,nssv1749636,nssv1749594,nssv1749635,nssv1749623,nssv1749571,nssv1749625,nssv1749572,nssv1749600,nssv1749593,nssv1749590,nssv1749592,nssv1749603,nssv1749573,nssv1749596,nssv1749582,nssv1749626,nssv1749570,nssv1749628,nssv1749586,nssv1749616,nssv1749581,nssv1749612,nssv1749641,nssv1749608,nssv1749567,nssv1749607,nssv1749599,nssv1749609,nssv1749597,nssv1749606,nssv1749591,nssv1749613,nssv1749633,nssv1749617 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv10e59 1 536552 537850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3377615,esv3393054 M 185 2 0 "" NA12878,NA12891 nsv945542 1 539210 547395 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573022,nssv2573014,nssv2573019,nssv2573021,nssv2573020,nssv2573013,nssv2573015,nssv2573016,nssv2573023,nssv2573018,nssv2573012,nssv2573017 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv11e59 1 543952 548650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3399854,esv3433794 M 185 2 0 "" NA12878,NA19238 nsv945543 1 547395 553759 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573032,nssv2573035,nssv2573031,nssv2573034,nssv2573027,nssv2573033,nssv2573029,nssv2573028,nssv2573026,nssv2573030,nssv2573024,nssv2573025 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945724 1 553759 559919 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749655,nssv1749714,nssv1749723,nssv1749720,nssv1749656,nssv1749690,nssv1749672,nssv1749715,nssv1749645,nssv1749693,nssv1749668,nssv1749708,nssv1749721,nssv1749677,nssv1749724,nssv1749697,nssv1749647,nssv1749689,nssv1749654,nssv1749669,nssv1749728,nssv1749670,nssv1749666,nssv1749719,nssv1749651,nssv1749739,nssv1749648,nssv1749735,nssv1749646,nssv1749686,nssv1749725,nssv1749678,nssv1749659,nssv1749692,nssv1749649,nssv1749674,nssv1749650,nssv1749705,nssv1749663,nssv1749716,nssv1749664,nssv1749681,nssv1749660,nssv1749644,nssv1749675,nssv1749737,nssv1749726,nssv1749709,nssv1749730,nssv1749682,nssv1749665,nssv1749702,nssv1749673,nssv1749713,nssv1749658,nssv1749691,nssv1749727,nssv1749733,nssv1749652,nssv1749688,nssv1749729,nssv1749684,nssv1749661,nssv1749710,nssv1749653,nssv1749701,nssv1749662,nssv1749695,nssv1749657,nssv1749738,nssv1749722,nssv1749717,nssv1749699,nssv1749734,nssv1749707,nssv1749680,nssv1749694,nssv1749700,nssv1749676,nssv1749732,nssv1749685,nssv1749667,nssv1749740,nssv1749706,nssv1749698,nssv1749712,nssv1749704,nssv1749683,nssv1749703,nssv1749679,nssv1749731,nssv1749696,nssv1749718,nssv1749687,nssv1749736,nssv1749671,nssv1749711 M 97 10 0 MIR6723 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3417080 1 554252 560250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692377 M 185 1 0 MIR6723 NA19239 dgv1e24 1 554297 639610 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH esv2750552,esv2750735,esv2750642,esv2750643,esv2750751,esv2750702,esv2750566,esv2750488,esv2750655,esv2750730,esv2750723,esv2750553,esv2750575 M 51 0 13 MIR6723,OR4F16,OR4F29,OR4F3 21634,21837,21847,21863,21872,21911,21938,21972,22007,22170,22231,22278,22371 dgv2n14 1 554340 696231 CNV gain Cooper_et_al_2008 18776910 SNP array nsv433346,nsv433347 M 9 2 0 LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 NA12156,NA19240 nsv820617 1 554403 560638 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1419880 M 1 1 0 MIR6723 NA10851 nsv945544 1 554419 555951 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573041,nssv2573045,nssv2573037,nssv2573044,nssv2573042,nssv2573039,nssv2573043,nssv2573036,nssv2573038,nssv2573040 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1004962 1 554484 840538 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696751 M 29084 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 nsv1003571 1 554636 788822 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466368 M 29084 0 1 FAM87B,LINC00115,LINC01128,LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 nsv544876 1 554725 558326 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707626 M 17421 0 1 MIR6723 dgv3n54 1 555353 560041 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544878,nsv544877 M 17421 0 2 MIR6723 nsv945546 1 558017 559319 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573047,nssv2573046,nssv2573051,nssv2573055,nssv2573052,nssv2573053,nssv2573054,nssv2573049,nssv2573050,nssv2573048 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945727 1 559919 564802 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573062,nssv2573059,nssv2573063,nssv2573064,nssv2573058,nssv2573060,nssv2573065,nssv2573057,nssv2573066,nssv2573061,nssv2573056 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945726 1 559919 607773 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749753,nssv1750734,nssv1749769,nssv1749780,nssv1750742,nssv1750729,nssv1749770,nssv1749773,nssv1749754,nssv1750724,nssv1750740,nssv1749786,nssv1749765,nssv1749768,nssv1750736,nssv1750733,nssv1750741,nssv1749790,nssv1750738,nssv1749794,nssv1749745,nssv1749779,nssv1749746,nssv1749776,nssv1749752,nssv1749782,nssv1749762,nssv1749774,nssv1749756,nssv1749783,nssv1749750,nssv1750725,nssv1749760,nssv1749767,nssv1749744,nssv1749778,nssv1749761,nssv1750730,nssv1750737,nssv1749766,nssv1750735,nssv1749789,nssv1749757,nssv1749788,nssv1749755,nssv1750726,nssv1750739,nssv1750731,nssv1749772,nssv1749792,nssv1749759,nssv1749775,nssv1749749,nssv1749741,nssv1750744,nssv1750728,nssv1749751,nssv1749771,nssv1749742,nssv1750723,nssv1749748,nssv1749787,nssv1749758,nssv1749785,nssv1749747,nssv1750727,nssv1749763,nssv1749795,nssv1750743,nssv1749764,nssv1749743,nssv1749781,nssv1749791,nssv1750721,nssv1749784,nssv1750720,nssv1750722,nssv1749777,nssv1750732,nssv1749793 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3362065 1 561052 569850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692378 M 185 1 0 "" NA12878 nsv945547 1 564802 570228 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573074,nssv2573086,nssv2573075,nssv2573098,nssv2573070,nssv2573101,nssv2573092,nssv2573087,nssv2573108,nssv2573084,nssv2573110,nssv2573102,nssv2573104,nssv2573115,nssv2573095,nssv2573093,nssv2573077,nssv2573073,nssv2573094,nssv2573069,nssv2573091,nssv2573106,nssv2573096,nssv2573111,nssv2573081,nssv2573090,nssv2573097,nssv2573113,nssv2573109,nssv2573112,nssv2573105,nssv2573071,nssv2573107,nssv2573089,nssv2573072,nssv2573088,nssv2573076,nssv2573079,nssv2573085,nssv2573100,nssv2573103,nssv2573114,nssv2573078,nssv2573080,nssv2573082,nssv2573083,nssv2573099,nssv2573068 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3393199 1 566652 568850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692385 M 185 1 0 "" NA19240 nsv831869 1 569355 733174 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442740,nssv1442629,nssv1443073,nssv1443184,nssv1443295,nssv1443406,nssv1442962,nssv1442851,nssv1443517,nssv1443628 M 95 8 2 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 nsv945549 1 570228 572021 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573123,nssv2573154,nssv2573124,nssv2573152,nssv2573119,nssv2573137,nssv2573135,nssv2573134,nssv2573142,nssv2573159,nssv2573157,nssv2573161,nssv2573117,nssv2573149,nssv2573132,nssv2573143,nssv2573155,nssv2573126,nssv2573133,nssv2573158,nssv2573151,nssv2573125,nssv2573156,nssv2573127,nssv2573145,nssv2573153,nssv2573118,nssv2573141,nssv2573129,nssv2573160,nssv2573130,nssv2573138,nssv2573147,nssv2573139,nssv2573150,nssv2573120,nssv2573148,nssv2573128,nssv2573121,nssv2573140,nssv2573162,nssv2573131,nssv2573144,nssv2573136,nssv2573146,nssv2573163,nssv2573122,nssv2573164 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3363248 1 581952 582850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692393 M 185 1 0 "" NA19238 dgv12e59 1 593552 595150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3383793,esv3428101 M 185 2 0 "" NA19239,NA19240 nsv945736 1 607773 627267 OTHER complex Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1684710,nssv1684702,nssv1683206,nssv1750753,nssv1750751,nssv1750765,nssv1683217,nssv1685641,nssv1683213,nssv1750773,nssv1750752,nssv1750780,nssv1683211,nssv1750760,nssv1682260,nssv1750768,nssv1683218,nssv1750756,nssv1684714,nssv1751179,nssv1684422,nssv1750750,nssv1683214,nssv1750775,nssv1684722,nssv1686462,nssv1683219,nssv1750766,nssv1683212,nssv1750778,nssv1683221,nssv1684701,nssv1683195,nssv1750755,nssv1684523,nssv1686496,nssv1684708,nssv1750771,nssv1684715,nssv1684704,nssv1683215,nssv1750774,nssv1750747,nssv1751184,nssv1684713,nssv1750782,nssv1684712,nssv1684705,nssv1682238,nssv1751178,nssv1684707,nssv1686494,nssv1683220,nssv1751176,nssv1682226,nssv1686493,nssv1685439,nssv1750759,nssv1683296,nssv1751180,nssv1684624,nssv1750769,nssv1684711,nssv1750749,nssv1684699,nssv1750767,nssv1683397,nssv1751185,nssv1750754,nssv1751181,nssv1682249,nssv1750762,nssv1750764,nssv1751183,nssv1750779,nssv1686498,nssv1750758,nssv1750776,nssv1686495,nssv1750772,nssv1750757,nssv1684703,nssv1685540,nssv1750761,nssv1750748,nssv1751182,nssv1751177,nssv1750746,nssv1684700,nssv1686361,nssv1750770,nssv1750777,nssv1684706,nssv1750781,nssv1750763,nssv1686497,nssv1750745 M 97 10 0 OR4F16,OR4F29,OR4F3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv544879 1 619605 687793 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707629 M 17421 0 1 LOC100133331 nsv945730 1 627267 631228 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573175,nssv2573184,nssv2573168,nssv2573177,nssv2573172,nssv2573190,nssv2573173,nssv2573186,nssv2573171,nssv2573166,nssv2573209,nssv2573207,nssv2573193,nssv2573170,nssv2573194,nssv2573201,nssv2573199,nssv2573181,nssv2573179,nssv2573182,nssv2573169,nssv2573195,nssv2573210,nssv2573212,nssv2573198,nssv2573189,nssv2573185,nssv2573174,nssv2573167,nssv2573208,nssv2573205,nssv2573213,nssv2573197,nssv2573206,nssv2573192,nssv2573211,nssv2573187,nssv2573180,nssv2573204,nssv2573203,nssv2573202,nssv2573183,nssv2573196,nssv2573178,nssv2573200,nssv2573188,nssv2573176,nssv2573191 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945729 1 627267 652296 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751196,nssv1751244,nssv1751189,nssv1751235,nssv1751207,nssv1751252,nssv1751201,nssv1751247,nssv1751217,nssv1751224,nssv1751214,nssv1751248,nssv1751198,nssv1751239,nssv1751263,nssv1751230,nssv1751188,nssv1751226,nssv1751257,nssv1751213,nssv1751199,nssv1751249,nssv1751259,nssv1751233,nssv1751208,nssv1751218,nssv1751187,nssv1751216,nssv1751262,nssv1751228,nssv1751261,nssv1751254,nssv1751200,nssv1751223,nssv1751191,nssv1751221,nssv1751210,nssv1751225,nssv1751197,nssv1751243,nssv1751260,nssv1751253,nssv1751215,nssv1751209,nssv1751193,nssv1751241,nssv1751256,nssv1751231,nssv1751202,nssv1751246,nssv1751190,nssv1751250,nssv1751194,nssv1751212,nssv1751265,nssv1751238,nssv1751192,nssv1751255,nssv1751195,nssv1751222,nssv1751204,nssv1751236,nssv1751258,nssv1751237,nssv1751203,nssv1751240,nssv1751264,nssv1751232,nssv1751206,nssv1751219,nssv1751205,nssv1751211,nssv1751251,nssv1751220,nssv1751242,nssv1751186,nssv1751227,nssv1751245,nssv1751229,nssv1751234 M 97 10 0 LOC100133331 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945551 1 631228 636483 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573222,nssv2573249,nssv2573217,nssv2573253,nssv2573221,nssv2573261,nssv2573245,nssv2573236,nssv2573220,nssv2573229,nssv2573257,nssv2573255,nssv2573225,nssv2573219,nssv2573234,nssv2573232,nssv2571023,nssv2573237,nssv2573238,nssv2573256,nssv2573218,nssv2573241,nssv2573259,nssv2573224,nssv2573260,nssv2573250,nssv2573235,nssv2573242,nssv2573248,nssv2573240,nssv2573239,nssv2573252,nssv2573226,nssv2573230,nssv2573243,nssv2573228,nssv2573246,nssv2573247,nssv2573215,nssv2573233,nssv2573251,nssv2573258,nssv2573244,nssv2573231,nssv2573223,nssv2573216,nssv2573227,nssv2573254 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945552 1 636483 636983 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571035,nssv2571050,nssv2571027,nssv2571072,nssv2571033,nssv2571056,nssv2571031,nssv2571024,nssv2571070,nssv2571037,nssv2571057,nssv2571051,nssv2571048,nssv2571068,nssv2571062,nssv2571055,nssv2571038,nssv2571044,nssv2571041,nssv2571071,nssv2571046,nssv2571060,nssv2571067,nssv2571026,nssv2571045,nssv2571025,nssv2571036,nssv2571042,nssv2571066,nssv2571047,nssv2571034,nssv2571030,nssv2571063,nssv2571064,nssv2571069,nssv2571049,nssv2571039,nssv2571077,nssv2571073,nssv2571040,nssv2571075,nssv2571028,nssv2571029,nssv2571052,nssv2571058,nssv2571059,nssv2571074,nssv2571053,nssv2571061 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945732 1 652296 720191 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751961,nssv1751325,nssv1751278,nssv1751974,nssv1751275,nssv1751302,nssv1751268,nssv1751307,nssv1751966,nssv1751312,nssv1751294,nssv1751291,nssv1751287,nssv1751266,nssv1751272,nssv1751289,nssv1751297,nssv1751314,nssv1751959,nssv1751958,nssv1751277,nssv1751300,nssv1751267,nssv1751953,nssv1751967,nssv1751955,nssv1751288,nssv1751304,nssv1751279,nssv1751320,nssv1751282,nssv1751322,nssv1751962,nssv1751327,nssv1751290,nssv1751978,nssv1751276,nssv1751332,nssv1751295,nssv1751975,nssv1751280,nssv1751315,nssv1751271,nssv1751309,nssv1751965,nssv1751956,nssv1751273,nssv1751954,nssv1751281,nssv1751310,nssv1751963,nssv1751977,nssv1751270,nssv1751305,nssv1751274,nssv1751296,nssv1751964,nssv1751328,nssv1751284,nssv1751308,nssv1751968,nssv1751299,nssv1751283,nssv1751957,nssv1751960,nssv1751319,nssv1751286,nssv1751292,nssv1751269,nssv1751293,nssv1751285,nssv1751298,nssv1751329,nssv1751324,nssv1751306,nssv1751303,nssv1751313,nssv1751301,nssv1751333,nssv1751323,nssv1751970,nssv1751334,nssv1751318,nssv1751311,nssv1751321,nssv1751330,nssv1751976,nssv1751952,nssv1751971,nssv1751335,nssv1751326,nssv1751331,nssv1751316,nssv1751972,nssv1751969,nssv1751973,nssv1751317 M 97 10 0 LOC100133331,LOC100288069 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3361605 1 663252 665450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692399 M 185 1 0 "" NA12878 esv3345025 1 663452 664850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692400 M 185 1 0 "" NA12891 nsv999785 1 696950 788822 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463004 M 29084 1 0 FAM87B,LINC00115,LINC01128,LOC100288069 esv2762129 1 696962 826948 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7004879 M 1109 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 RW_0585 nsv10161 1 701974 1698509 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv24602,nssv24600,nssv18108,nssv28946,nssv28533,nssv26882,nssv21436,nssv21448,nssv21431,nssv28031,nssv28029,nssv26877,nssv24610,nssv28921,nssv28038,nssv26876,nssv24621,nssv28552,nssv28048,nssv28542,nssv28940,nssv26892,nssv21429,nssv26879,nssv28558,nssv26888 M 31 11 7 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM41C,FAM87B,GLTPD1,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC100288069,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MMP23A,MMP23B,MRPL20,MXRA8,NADK,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 NA07048,NA10839,NA10863,NA12740,NA12872,NA18504,NA18537,NA18552,NA18564,NA18572,NA18972,NA19144,NA19173,NA19221 nsv508722 1 707782 733936 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619756 M 4 1 0 "" NA10860 nsv510950 1 707782 737205 OTHER complex Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621648,nssv624357 M 4 0 0 "" NA15510,NA18994 nsv513729 1 713995 716800 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626981 M 1 1 0 "" 1 nsv544880 1 714163 715600 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707630 M 17421 1 0 "" dgv4n54 1 714163 716900 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544884,nsv544883,nsv544882,nsv544881,nsv544888,nsv544886 M 17421 12 0 "" esv26272 1 714177 717108 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17593 M 40 0 4 "" NA11894,NA12006,NA12287,NA12828 nsv820807 1 714177 717108 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420291 M 1 1 0 "" NA10851 dgv5n54 1 714382 716657 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544885,nsv544887,nsv544890,nsv544891 M 17421 23 5 "" nsv544889 1 714712 716261 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707648 M 17421 0 1 "" nsv544892 1 715272 716657 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707672 M 17421 0 1 "" nsv544893 1 715600 742429 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707673 M 17421 0 1 "" nsv945734 1 728777 785238 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752032,nssv1751986,nssv1752024,nssv1751989,nssv1752026,nssv1751993,nssv1752023,nssv1752010,nssv1752015,nssv1752000,nssv1752041,nssv1752056,nssv1752004,nssv1752051,nssv1752009,nssv1751991,nssv1752045,nssv1751994,nssv1752018,nssv1751981,nssv1752029,nssv1752057,nssv1752036,nssv1752052,nssv1752044,nssv1751983,nssv1752034,nssv1752008,nssv1752035,nssv1751980,nssv1752005,nssv1751990,nssv1752039,nssv1752001,nssv1752037,nssv1751999,nssv1752020,nssv1751984,nssv1752002,nssv1752049,nssv1752012,nssv1751985,nssv1752047,nssv1751998,nssv1752046,nssv1752055,nssv1752019,nssv1752003,nssv1752040,nssv1751992,nssv1752011,nssv1752053,nssv1752013,nssv1752007,nssv1752025,nssv1751995,nssv1752030,nssv1751988,nssv1752022,nssv1752050,nssv1752043,nssv1751987,nssv1752006,nssv1752058,nssv1752048,nssv1752054,nssv1752027,nssv1751996,nssv1752016,nssv1751997,nssv1752042,nssv1751982,nssv1752028,nssv1752017,nssv1752033,nssv1752021,nssv1752031,nssv1752014,nssv1752038,nssv1751979 M 97 10 0 FAM87B,LINC00115,LINC01128 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1005935 1 730720 840538 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696752 M 29084 1 0 FAM41C,FAM87B,LINC00115,LINC01128 dgv1n67 1 736271 839800 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv822808,nsv823919,nsv821697 M 31 4 0 FAM41C,FAM87B,LINC00115,LINC01128 NA18564,NA18947,NA18951,NA18972 dgv1e55 1 742429 789326 CNV gain Pinto_et_al_2007 17911159 SNP array esv34681,esv34886 M 771 4 0 FAM87B,LINC00115,LINC01128 NA18620,NA18947 nsv517709 1 742429 1201155 CNV gain+loss Shaikh_et_al_2009 19592680 SNP array nssv677805,nssv657472,nssv662754,nssv677935,nssv667239,nssv654371,nssv658652,nssv688100,nssv681209,nssv668090,nssv662132,nssv660727,nssv691743,nssv652918,nssv683576,nssv670683,nssv680332,nssv669544,nssv700902 M 2026 18 1 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,FAM41C,FAM87B,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv27271 1 744056 752485 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14965 M 40 1 0 FAM87B,LINC00115 NA18916 esv33946 1 744068 769619 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv101171,essv96332 M 51 2 0 FAM87B,LINC00115,LINC01128 21618,22371 esv1032937 1 746130 746130 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3703690 M 2 1 0 "" HuRef nsv442837 1 755964 799636 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617613,nssv1616724,nssv1616613,nssv1617835,nssv1616612,nssv1618057,nssv1617946,nssv1617502,nssv1618168,nssv1617391,nssv1617724 M 270 10 1 FAM41C,LINC01128 NA18564,NA18571,NA18572,NA18573,NA18620,NA18635,NA18947,NA18951,NA18972,NA18976,NA18990 esv2762248 1 758656 780873 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7007410 M 1109 0 1 LINC01128 SW_1162 nsv298 1 762262 782522 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3151 M 9 1 0 LINC01128 NA12878 nsv1009537 1 766985 840538 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467703 M 29084 1 0 FAM41C,LINC01128 nsv832980 1 773522 932280 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443740 M 95 1 0 C1orf170,FAM41C,HES4,KLHL17,LINC01128,LOC100130417,NOC2L,PLEKHN1,SAMD11 esv1517733 1 778884 778933 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4242314 M 2 0 1 LINC01128 HuRef nsv508924 1 779622 810192 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619757 M 4 1 0 FAM41C,LINC01128 NA10860 nsv945735 1 785238 786485 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752079,nssv1752120,nssv1752080,nssv1752104,nssv1752066,nssv1752111,nssv1752136,nssv1752135,nssv1752143,nssv1752103,nssv1752138,nssv1752108,nssv1752074,nssv1752118,nssv1752090,nssv1752084,nssv1752061,nssv1752101,nssv1752063,nssv1752149,nssv1752068,nssv1752153,nssv1752140,nssv1752107,nssv1752060,nssv1752148,nssv1752139,nssv1752106,nssv1752069,nssv1752131,nssv1752081,nssv1752146,nssv1752062,nssv1752134,nssv1752141,nssv1752154,nssv1752078,nssv1752150,nssv1752065,nssv1752112,nssv1752072,nssv1752059,nssv1752087,nssv1752152,nssv1752142,nssv1752094,nssv1752083,nssv1752125,nssv1752071,nssv1752130,nssv1752064,nssv1752124,nssv1752145,nssv1752095,nssv1752075,nssv1752089,nssv1752070,nssv1752127,nssv1752144,nssv1752116,nssv1752067,nssv1752155,nssv1752073,nssv1752085,nssv1752077,nssv1752098,nssv1752088,nssv1752132,nssv1752076,nssv1752082,nssv1752137,nssv1752091,nssv1752092,nssv1752113,nssv1752147,nssv1752126,nssv1752100,nssv1752117,nssv1752099,nssv1752105,nssv1752122,nssv1752123,nssv1752119,nssv1752110,nssv1752121,nssv1752109,nssv1752133,nssv1752086,nssv1752097,nssv1752115,nssv1752102,nssv1752096,nssv1752129,nssv1752128,nssv1752151,nssv1752114,nssv1752093 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945738 1 786485 791177 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752233,nssv1752205,nssv1752162,nssv1752211,nssv1752228,nssv1752183,nssv1752177,nssv1752197,nssv1752163,nssv1752212,nssv1752176,nssv1752215,nssv1752160,nssv1752219,nssv1752166,nssv1752201,nssv1752170,nssv1752220,nssv1752168,nssv1752216,nssv1752229,nssv1752194,nssv1752231,nssv1752190,nssv1752167,nssv1752208,nssv1752159,nssv1752196,nssv1752178,nssv1752198,nssv1752165,nssv1752199,nssv1752187,nssv1752193,nssv1752185,nssv1752203,nssv1752232,nssv1752200,nssv1752180,nssv1752156,nssv1752230,nssv1752217,nssv1752169,nssv1752209,nssv1752161,nssv1752179,nssv1752175,nssv1752186,nssv1752172,nssv1752191,nssv1752157,nssv1752181,nssv1752227,nssv1752204,nssv1752184,nssv1752221,nssv1752171,nssv1752214,nssv1752226,nssv1752210,nssv1752234,nssv1752182,nssv1752164,nssv1752192,nssv1752235,nssv1752222,nssv1752174,nssv1752223,nssv1752173,nssv1752195,nssv1752158,nssv1752206,nssv1752225,nssv1752188,nssv1752189,nssv1752213,nssv1752202,nssv1752224,nssv1752218,nssv1752207 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945739 1 791177 816402 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753188,nssv1753212,nssv1752247,nssv1753199,nssv1752243,nssv1749324,nssv1752254,nssv1753216,nssv1753191,nssv1749330,nssv1752244,nssv1753231,nssv1749317,nssv1753213,nssv1752242,nssv1749332,nssv1749313,nssv1753218,nssv1752256,nssv1753227,nssv1749319,nssv1753196,nssv1752250,nssv1749310,nssv1749322,nssv1749334,nssv1749318,nssv1749311,nssv1752246,nssv1753195,nssv1752238,nssv1749312,nssv1752239,nssv1753205,nssv1752251,nssv1753201,nssv1749323,nssv1753221,nssv1752258,nssv1753229,nssv1749316,nssv1753230,nssv1749314,nssv1753206,nssv1752248,nssv1753226,nssv1752240,nssv1749333,nssv1753189,nssv1753185,nssv1749321,nssv1753215,nssv1752249,nssv1753187,nssv1752241,nssv1753209,nssv1752237,nssv1753198,nssv1752252,nssv1753200,nssv1752257,nssv1752236,nssv1752255,nssv1753217,nssv1752245,nssv1753203,nssv1753184,nssv1753192,nssv1752253,nssv1753214,nssv1749320,nssv1753219,nssv1753223,nssv1749327,nssv1749328,nssv1753228,nssv1749325,nssv1753210,nssv1753222,nssv1753186,nssv1753224,nssv1753208,nssv1753204,nssv1753193,nssv1749331,nssv1752259,nssv1753194,nssv1753211,nssv1753232,nssv1749329,nssv1753220,nssv1753202,nssv1753225,nssv1749309,nssv1753207,nssv1753197,nssv1753190 M 97 10 0 FAM41C HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv1069885 1 792114 792114 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3978908 M 2 1 0 "" HuRef nsv428334 1 799614 1145812 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv450908 M 62 1 0 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10 HGDP00467 esv3325034 1 800936 801942 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652099 M 185 1 0 FAM41C NA19240 esv991325 1 800940 801701 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564868 M 3 1 0 FAM41C HuRef dgv2n67 1 802861 1351743 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv826141,nsv825030 M 31 2 0 ACAP3,AGRN,ANKRD65,AURKAIP1,B3GALT6,C1orf159,C1orf170,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MRPL20,MXRA8,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 NA18968,NA18969 esv3382589 1 810666 810718 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740932 M 185 1 0 "" NA12878 esv3358119 1 812716 812724 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863668,essv7863667 M 185 2 0 "" NA12005,NA18953 esv3400943 1 814916 814916 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8825303 M 185 1 0 "" NA19240 nsv945562 1 816402 824072 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572151,nssv2572181,nssv2572155,nssv2572161,nssv2572156,nssv2572176,nssv2572158,nssv2572177,nssv2572184,nssv2572182,nssv2572153,nssv2572169,nssv2572160,nssv2572190,nssv2572166,nssv2572185,nssv2572179,nssv2572178,nssv2572164,nssv2572175,nssv2572171,nssv2572167,nssv2572183,nssv2572173,nssv2572194,nssv2572180,nssv2572159,nssv2572188,nssv2572157,nssv2572165,nssv2572172,nssv2572193,nssv2572154,nssv2572196,nssv2572170,nssv2572192,nssv2572189,nssv2572168,nssv2572191,nssv2572195,nssv2572174,nssv2572162,nssv2572163,nssv2572150,nssv2572149,nssv2572152,nssv2572187,nssv2572186 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv509035 1 816649 910967 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619758,nssv621079 M 4 2 0 C1orf170,KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 NA10860,NA15510 esv1562509 1 834463 834729 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3716763 M 2 0 1 "" HuRef esv2762302 1 839880 1031563 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7008521 M 1109 1 0 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 SW_1358 dgv6n54 1 842635 860173 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544894,nsv544896 M 17421 0 2 LOC100130417,SAMD11 nsv544895 1 842635 980143 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707675 M 17421 0 1 AGRN,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 nsv544897 1 849908 860173 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707677,nssv707678 M 17421 1 1 SAMD11 nsv544898 1 849908 869180 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707679 M 17421 1 0 SAMD11 dgv7n54 1 850997 860508 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544900,nsv544899 M 17421 0 5 SAMD11 dgv8n54 1 850997 869180 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544901,nsv544907 M 17421 0 2 SAMD11 dgv9n54 1 850997 878083 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544902,nsv544903 M 17421 0 2 NOC2L,SAMD11 nsv544904 1 854801 860120 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707689,nssv707688 M 17421 2 0 SAMD11 dgv10n54 1 854801 860508 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544906,nsv544905 M 17421 5 7 SAMD11 nsv511670 1 859114 860723 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626307 M 1 0 1 SAMD11 1 esv27608 1 859173 860210 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv10036 M 40 24 12 SAMD11 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv989364 1 859278 860210 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586109 M 3 0 1 SAMD11 HuRef dgv11n54 1 859306 860120 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544915,nsv544920,nsv544908,nsv544916,nsv544909 M 17421 0 8 SAMD11 dgv12n54 1 859306 860173 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544910,nsv544917,nsv544911,nsv544922,nsv544927,nsv544921,nsv544926 M 17421 99 267 SAMD11 dgv13n54 1 859306 860508 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544912,nsv544923 M 17421 6 24 SAMD11 dgv14n54 1 859306 863421 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544929,nsv544918,nsv544913 M 17421 4 0 SAMD11 dgv15n54 1 859306 869180 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544914,nsv544925,nsv544933 M 17421 0 17 SAMD11 esv1732269 1 859334 859446 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4110931 M 2 0 1 SAMD11 HuRef nsv544919 1 859413 859897 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707961,nssv708052,nssv707996,nssv707998,nssv707836,nssv707837,nssv707973,nssv707909,nssv707854,nssv707865,nssv708076,nssv707841,nssv707972,nssv708046,nssv707848,nssv707980,nssv707845,nssv708075,nssv708065,nssv707985,nssv707917,nssv707853,nssv707849,nssv708047,nssv707921,nssv708067,nssv708053,nssv707877,nssv707850,nssv707851,nssv707852,nssv707913,nssv707976,nssv707926,nssv708063,nssv707843,nssv707840,nssv708009,nssv707856,nssv708022,nssv708062,nssv707991,nssv707970,nssv708057,nssv708039,nssv708084,nssv707855,nssv708083,nssv707999,nssv708054,nssv708015,nssv707864,nssv708061,nssv707925,nssv707859,nssv707858,nssv707857,nssv707863,nssv707977,nssv708058,nssv707860,nssv708059,nssv707974,nssv708026,nssv708056,nssv707862,nssv707924,nssv707861,nssv707922,nssv707923,nssv708051,nssv707997,nssv707957,nssv708042,nssv707978,nssv708001,nssv708000,nssv707868,nssv708035,nssv708032,nssv707958,nssv707964,nssv707846,nssv707931,nssv708041,nssv708074,nssv707975,nssv707916,nssv707927,nssv708085,nssv707847,nssv708005,nssv707839,nssv707866,nssv707967,nssv707867,nssv707876,nssv707990,nssv708086,nssv708087,nssv708068,nssv708025,nssv708019,nssv708031,nssv708072,nssv707915,nssv707930,nssv707932,nssv707838,nssv708040,nssv708033,nssv708021,nssv708008,nssv707911,nssv708018,nssv707875,nssv707912,nssv707910,nssv708073,nssv707989,nssv707874,nssv707871,nssv707869,nssv707870,nssv707928,nssv707873,nssv708071,nssv707979,nssv707929,nssv708066,nssv707872,nssv708070,nssv708028,nssv707881,nssv708064,nssv708048,nssv708007,nssv707817,nssv708082,nssv707823,nssv707993,nssv707844,nssv707908,nssv707933,nssv707883,nssv707879,nssv707878,nssv707880,nssv708024,nssv708037,nssv707893,nssv707882,nssv707968,nssv707971,nssv707914,nssv707905,nssv707987,nssv708017,nssv707920,nssv707956,nssv708010,nssv708088,nssv707962,nssv708080,nssv707887,nssv708044,nssv707822,nssv707969,nssv708030,nssv707982,nssv707818,nssv707981,nssv707886,nssv708078,nssv708016,nssv707906,nssv707988,nssv707963,nssv708027,nssv707885,nssv708077,nssv708043,nssv707884,nssv708055,nssv707820,nssv708079,nssv708023,nssv708069,nssv707960,nssv707888,nssv707992,nssv707821,nssv707819,nssv708014,nssv708036,nssv707891,nssv708050,nssv707892,nssv707937,nssv707936,nssv707934,nssv707935,nssv707890,nssv707889,nssv708045,nssv707842,nssv708006,nssv708002,nssv708029,nssv707995,nssv708011,nssv708034,nssv707902,nssv707965,nssv707959,nssv708089,nssv707983,nssv707904,nssv707834,nssv707919,nssv707955,nssv708060,nssv707943,nssv708081,nssv707938,nssv707835,nssv707939,nssv707824,nssv707899,nssv707966,nssv707828,nssv708091,nssv707900,nssv708004,nssv708090,nssv707829,nssv707895,nssv707941,nssv707894,nssv707827,nssv707942,nssv707898,nssv708093,nssv707940,nssv708092,nssv707896,nssv708094,nssv707826,nssv707825,nssv707897,nssv708038,nssv707918,nssv707830,nssv707994,nssv707946,nssv708049,nssv707901,nssv707986,nssv707945,nssv708020,nssv707954,nssv707944,nssv707832,nssv707953,nssv707948,nssv707947,nssv708012,nssv708003,nssv708013,nssv707907,nssv707952,nssv707833,nssv707903,nssv707949,nssv707831,nssv707984,nssv707951,nssv707950 M 17421 0 278 SAMD11 nsv544924 1 859413 863421 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708369,nssv708370,nssv708372,nssv708371,nssv708368,nssv708373 M 17421 1 5 SAMD11 esv1062785 1 859459 860187 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4275138 M 2 0 1 SAMD11 HuRef nsv544928 1 859466 860508 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708410 M 17421 1 0 SAMD11 nsv544930 1 859672 860173 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708412,nssv708434,nssv708432,nssv708426,nssv708422,nssv708431,nssv708416,nssv708436,nssv708439,nssv708427,nssv708429,nssv708424,nssv708440,nssv708435,nssv708438,nssv708441,nssv708433,nssv708425,nssv708419,nssv708413,nssv708417,nssv708415,nssv708418,nssv708420,nssv708437,nssv708421,nssv708414,nssv708430,nssv708428,nssv708423 M 17421 0 30 SAMD11 dgv16n54 1 859672 860508 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544934,nsv544931 M 17421 0 9 SAMD11 nsv544932 1 859672 863421 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708450 M 17421 0 1 SAMD11 esv2066434 1 861356 861730 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4643302 M 1 0 1 SAMD11 NA18507 nsv1013524 1 864753 1087198 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475564 M 29084 1 0 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC254099,NOC2L,PLEKHN1,RNF223,SAMD11 dgv13e59 1 875052 876050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3428898,esv3364706 M 185 2 0 NOC2L NA19239,NA19240 nsv482036 1 885830 890958 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558397 M 1 1 0 KLHL17 KB1 esv1003697 1 889874 889948 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3568238 M 3 0 1 KLHL17 HuRef nsv159315 1 890012 890087 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177893 M 24 KLHL17 esv3451859 1 894352 895250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692422 M 185 1 0 PLEKHN1 NA19239 esv1001028 1 900918 903597 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565170 M 3 1 0 C1orf170 HuRef esv1165796 1 902141 903171 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4038215 M 2 0 1 C1orf170 HuRef esv997839 1 918544 920627 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565560 M 3 0 1 "" HuRef nsv159328 1 921528 921593 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177906 M 24 "" esv1776849 1 921643 921643 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3713900 M 2 1 0 "" HuRef nsv159419 1 921844 921974 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177997 M 24 "" nsv827252 1 923968 926370 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436318 M 31 1 0 HES4 NA18542 nsv945741 1 932437 1017862 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749378,nssv1749431,nssv1749389,nssv1749421,nssv1749377,nssv1749443,nssv1749452,nssv1749424,nssv1749364,nssv1749418,nssv1749365,nssv1749390,nssv1749379,nssv1749412,nssv1749367,nssv1749408,nssv1749385,nssv1749463,nssv1749368,nssv1749433,nssv1749393,nssv1749437,nssv1749387,nssv1749401,nssv1749453,nssv1749396,nssv1749384,nssv1749466,nssv1749376,nssv1749426,nssv1749451,nssv1749406,nssv1749448,nssv1749410,nssv1749380,nssv1749420,nssv1749458,nssv1749417,nssv1749455,nssv1749460,nssv1749366,nssv1749464,nssv1749370,nssv1749400,nssv1749369,nssv1749430,nssv1749374,nssv1749391,nssv1749373,nssv1749444,nssv1749371,nssv1749399,nssv1749457,nssv1749439,nssv1749456,nssv1749411,nssv1749381,nssv1749469,nssv1749395,nssv1749467,nssv1749454,nssv1749423,nssv1749447,nssv1749465,nssv1749382,nssv1749392,nssv1749386,nssv1749459,nssv1749397,nssv1749415,nssv1749375,nssv1749441,nssv1749440,nssv1749428,nssv1749445,nssv1749409,nssv1749414,nssv1749446,nssv1749436,nssv1749435,nssv1749425,nssv1749468,nssv1749404,nssv1749434,nssv1749429,nssv1749422,nssv1749413,nssv1749363,nssv1749398,nssv1749403,nssv1749432,nssv1749462,nssv1749419,nssv1749388,nssv1749442,nssv1749402,nssv1749407 M 97 10 0 AGRN,C1orf159,ISG15,RNF223 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv828363 1 934543 938639 CNV gain+loss Park_et_al_2010 20364138 Oligo aCGH nssv1436320,nssv1434856 M 31 1 1 "" NA18542,NA18942 nsv509146 1 935753 1036431 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619759,nssv621080 M 4 2 0 AGRN,C1orf159,ISG15,RNF223 NA10860,NA15510 dgv17n54 1 939471 954301 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544936,nsv544935 M 17421 0 2 AGRN,ISG15 esv29017 1 953522 954343 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19930 M 40 0 6 AGRN NA11931,NA12044,NA12414,NA12749,NA12776,NA19240 esv987912 1 953683 954343 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586137 M 3 0 1 AGRN HuRef esv4415 1 953701 954430 CNV loss Wang_et_al_2008 18987735 Sequencing essv26856 M 1 0 1 AGRN YH nsv544937 1 953727 957451 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708455 M 17421 0 1 AGRN dgv18n54 1 953727 963630 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544943,nsv544939,nsv544938,nsv544942 M 17421 0 15 AGRN dgv19n54 1 953727 970323 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544944,nsv544940 M 17421 0 2 AGRN dgv20n54 1 953829 954301 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544945,nsv544941,nsv544946 M 17421 0 31 AGRN esv6517 1 954623 955442 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28958 M 1 0 0 AGRN dgv14e59 1 954952 956850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3385140,esv3441341 M 185 2 0 AGRN NA19239,NA19240 esv1064309 1 955858 955858 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3670093 M 2 1 0 AGRN HuRef nsv829425 1 981285 983720 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434857 M 31 0 1 AGRN NA18942 nsv1003578 1 993492 1207949 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466373 M 29084 1 0 B3GALT6,C1orf159,FAM132A,LOC254099,MIR200A,MIR200B,MIR429,RNF223,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 nsv544947 1 995669 1231947 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708504 M 17421 0 1 ACAP3,B3GALT6,C1orf159,FAM132A,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,RNF223,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 nsv470680 1 995669 1303878 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547649,nssv547648,nssv547650 M 443 0 3 ACAP3,AURKAIP1,B3GALT6,C1orf159,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 HGDP00661,HGDP00825,HGDP00978 esv25577 1 1001051 1004691 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv14645 M 40 1 11 "" NA11993,NA12489,NA12878,NA18502,NA18511,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 esv998069 1 1001111 1004546 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586245 M 3 1 0 "" HuRef dgv21n54 1 1001141 1004266 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544948,nsv544949 M 17421 0 2 "" nsv544950 1 1002543 1004488 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708508,nssv708507 M 17421 0 2 "" nsv1409 1 1020714 1049928 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4677 M 9 1 0 C1orf159 NA19129 dgv15e59 1 1024152 1025250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3385108,esv3352473 M 185 2 0 C1orf159 NA19238,NA19240 esv1010559 1 1024271 1025066 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586664 M 3 1 0 C1orf159 HuRef esv23529 1 1024271 1025066 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10745 M 40 24 0 C1orf159 NA06985,NA12414,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv544951 1 1024294 1024995 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708510,nssv708513,nssv708509,nssv708512,nssv708511 M 17421 5 0 C1orf159 esv1281251 1 1024878 1024878 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4028372 M 2 1 0 C1orf159 HuRef nsv160439 1 1034078 1034388 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179017 M 24 C1orf159 esv32594 1 1041551 1041689 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv92767,essv96399 M 51 0 2 C1orf159 21944,22371 nsv160193 1 1048777 1048856 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178771 M 24 "" esv3429749 1 1059695 1060122 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652034 M 185 1 0 "" NA19240 esv2630187 1 1062939 1066829 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5357752 M 1 0 1 LOC254099 NA18507 esv26506 1 1064242 1065980 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13049 M 40 17 0 LOC254099 NA11894,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA18909,NA19099,NA19129,NA19147,NA19225,NA19257 nsv544953 1 1064387 1065741 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708515 M 17421 0 1 LOC254099 dgv22n54 1 1064387 1065843 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544955,nsv544952 M 17421 2 0 LOC254099 nsv544954 1 1064487 1111657 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708516 M 17421 0 1 LOC254099,MIR200A,MIR200B,MIR429,TTLL10 nsv161017 1 1065770 1065952 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179595 M 24 LOC254099 nsv469848 1 1071325 1247478 CNV gain Locke_et_al_2006 16826518 BAC aCGH nssv1672244,nssv1674154,nssv1674008,nssv1672307,nssv1675926,nssv1675619,nssv1675327,nssv1674115,nssv1675776,nssv1676084,nssv1676561,nssv1673518,nssv1674135,nssv1672626,nssv1672854,nssv1675455,nssv1675739,nssv1672738,nssv1674359,nssv1675676,nssv1674285,nssv1672390,nssv1672249,nssv1673798,nssv1672366,nssv1674068,nssv1672094,nssv1673131,nssv1676085,nssv1675837,nssv1672396,nssv1674548,nssv1673139,nssv1673733,nssv1675128,nssv1673267,nssv1676489,nssv1672102,nssv1676113,nssv1673413,nssv1674296,nssv1676596,nssv1676397,nssv1674019,nssv1673850,nssv1674236,nssv1672467,nssv1674168,nssv1673022,nssv1675314,nssv1673400,nssv1675092,nssv1674020,nssv1672602,nssv1673566,nssv1676663,nssv1675446,nssv1675375 M 265 58 0 ACAP3,B3GALT6,CPSF3L,FAM132A,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,PUSL1,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv2524046 1 1073630 1078667 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5287439 M 1 0 1 "" NA18507 esv2587289 1 1074686 1080803 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5220272 M 1 0 1 "" NA18507 esv2317109 1 1076513 1077044 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4717325 M 1 0 1 "" NA18507 nsv509257 1 1077198 1114713 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619760 M 4 1 0 MIR200A,MIR200B,MIR429,TTLL10 NA10860 nsv544956 1 1096336 1166460 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708518 M 17421 0 1 B3GALT6,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv829536 1 1102010 1102952 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436321 M 31 1 0 TTLL10 NA18542 esv3335892 1 1109852 1110250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691755 M 185 1 0 TTLL10 NA19238 esv24081 1 1126866 1128146 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14081 M 40 8 0 "" NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19147,NA19190 nsv544957 1 1126989 1127516 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708519 M 17421 0 1 "" esv3341957 1 1127052 1127850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691757 M 185 1 0 "" NA19239 dgv23n54 1 1127303 1127974 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544959,nsv544958 M 17421 2 0 "" nsv544960 1 1129279 1132725 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708522 M 17421 0 1 TNFRSF18 dgv24n54 1 1130298 1138758 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544962,nsv544961 M 17421 0 2 TNFRSF18,TNFRSF4 nsv544963 1 1132188 1139524 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708525 M 17421 0 1 TNFRSF4 esv9332 1 1132366 1133130 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31773 M 1 0 0 "" nsv455661 1 1142494 1201155 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv533179 M 1557 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv544964 1 1142494 1201155 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172577 M 17421 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv544965 1 1142494 1231947 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708526 M 17421 0 1 ACAP3,B3GALT6,FAM132A,MIR6726,SCNN1D,SDF4,UBE2J2 nsv159887 1 1142956 1147823 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178465 M 24 SDF4 nsv821698 1 1154213 1159633 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433403 M 31 1 0 B3GALT6,SDF4 NA18526 esv33767 1 1157979 1158939 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv96403,essv92753,essv95205 M 51 0 3 B3GALT6 21721,21944,22371 esv5277 1 1173061 1173724 CNV loss Wang_et_al_2008 18987735 Sequencing essv27718 M 1 0 1 "" YH esv3337442 1 1174052 1174950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691758 M 185 1 0 "" NA19240 esv1750792 1 1174236 1174500 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3720664 M 2 0 1 "" HuRef nsv817616 1 1182378 1231947 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417737 M 112 0 1 ACAP3,MIR6726,SCNN1D,UBE2J2 NA19003 esv2758912 1 1189183 1309735 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757716 M 270 0 1 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 NA18991 nsv1000169 1 1206921 1287597 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464101 M 29084 1 0 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3 esv3408806 1 1209294 1209684 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652039 M 185 1 0 SCNN1D NA19240 esv25372 1 1213422 1215557 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv20786 M 40 2 14 SCNN1D NA12004,NA12006,NA12044,NA12287,NA12414,NA12878,NA15510,NA18505,NA18508,NA18511,NA18907,NA18909,NA18916,NA19099,NA19129,NA19257 esv2106414 1 1213431 1215612 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4728356 M 1 0 1 SCNN1D NA18507 nsv499366 1 1213443 1215496 CNV gain Kidd_et_al_2010b 21111241 Sequencing nssv585600 M 9 1 0 SCNN1D nsv544966 1 1213484 1215422 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708527 M 17421 1 0 SCNN1D esv1004967 1 1213507 1215472 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586753 M 3 1 0 SCNN1D HuRef nsv511671 1 1213721 1215484 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626308 M 1 0 1 SCNN1D 1 esv1653789 1 1213810 1214092 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3908676 M 2 0 1 SCNN1D HuRef esv1027332 1 1214136 1215179 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4148647 M 2 0 1 SCNN1D HuRef esv1323061 1 1215269 1215269 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3960677 M 2 1 0 SCNN1D HuRef dgv25n54 1 1215926 1231609 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544970,nsv544967,nsv544968 M 17421 0 3 ACAP3,MIR6726,SCNN1D nsv544969 1 1215926 1299840 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708530 M 17421 0 1 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3 nsv160950 1 1218975 1218975 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179528 M 24 ACAP3 nsv544971 1 1219306 1276669 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708532 M 17421 0 1 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,PUSL1,TAS1R3 esv3050 1 1222311 1223087 CNV loss Wang_et_al_2008 18987735 Sequencing essv25491 M 1 0 1 ACAP3 YH dgv6n100 1 1226993 1287597 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007042,nsv1006409 M 29084 3 22 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 nsv997291 1 1232078 1301579 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463548 M 29084 1 0 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 dgv7n100 1 1232078 1304300 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008000,nsv998999 M 29084 0 2 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 nsv1009541 1 1232078 1443453 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696754 M 29084 1 0 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,MIR6727,MIR6808,MRPL20,MXRA8,PUSL1,TAS1R3,TMEM88B,VWA1 esv3366182 1 1240852 1241150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691772 M 185 1 0 CPSF3L NA19238 nsv476469 1 1242639 1242639 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019423 M 9 1 0 CPSF3L NA12878 nsv544972 1 1246415 1262979 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708533 M 17421 0 1 CPSF3L,DVL1,GLTPD1,TAS1R3 dgv26n54 1 1246415 1276669 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544975,nsv544973,nsv544976,nsv544974 M 17421 0 4 CPSF3L,DVL1,GLTPD1,MIR6808,TAS1R3 nsv544977 1 1259849 1276990 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708539,nssv708538 M 17421 1 1 DVL1,MIR6808 dgv27n54 1 1262979 1278686 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544978,nsv544979 M 17421 3 0 DVL1,MIR6808,MXRA8 dgv28n54 1 1265940 1285266 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544981,nsv544980 M 17421 2 0 DVL1,MXRA8 dgv29n54 1 1266273 1276990 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544983,nsv544987,nsv544988,nsv544990,nsv544982,nsv544989 M 17421 0 8 DVL1 dgv30n54 1 1266273 1278686 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544986,nsv544985,nsv544984 M 17421 6 0 DVL1,MXRA8 nsv544991 1 1267396 1286016 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708559 M 17421 0 1 DVL1,MXRA8 nsv511672 1 1275043 1276733 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626309 M 1 0 1 "" 1 esv23965 1 1275263 1276763 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv19242 M 40 16 0 "" NA06985,NA12239,NA12414,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129 esv988609 1 1275263 1276763 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586390 M 3 0 1 "" HuRef dgv31n54 1 1275293 1276310 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544992,nsv544993 M 17421 0 2 "" dgv32n54 1 1275293 1276990 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544994,nsv544995 M 17421 10 5 "" nsv544996 1 1275293 1278686 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708580,nssv708578,nssv708577,nssv708579 M 17421 4 0 MXRA8 nsv544997 1 1275816 1276610 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708581 M 17421 0 1 "" dgv33n54 1 1275872 1279624 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544998,nsv544999 M 17421 0 2 MXRA8 esv9582 1 1291956 1292956 CNV loss Ahn_et_al_2009 19470904 Sequencing essv32023 M 1 0 0 "" esv3820 1 1292241 1292688 CNV loss Wang_et_al_2008 18987735 Sequencing essv26261 M 1 0 1 "" YH esv2540358 1 1307160 1307861 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5193104 M 1 1 0 "" NA18507 esv2758913 1 1314392 2014198 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757717,esv2756832 M 270 6 16 ANKRD65,ATAD3A,ATAD3B,ATAD3C,C1orf233,CALML6,CCNL2,CDK11A,CDK11B,GABRD,GNB1,KIAA1751,LOC148413,MIB2,MMP23A,MMP23B,MRPL20,NADK,PRKCZ,SLC35E2,SLC35E2B,SSU72,TMEM240,TMEM52,TMEM88B,VWA1 NA07056,NA10839,NA12003,NA12006,NA12144,NA12248,NA12740,NA12750,NA12762,NA18504,NA18523,NA18537,NA18632,NA18635,NA18854,NA18940,NA18976,NA18994,NA19144,NA19204,NA19205 nsv1011818 1 1319575 1500664 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696755 M 29084 1 0 ANKRD65,ATAD3A,ATAD3B,ATAD3C,CCNL2,LOC148413,MRPL20,SSU72,TMEM240,TMEM88B,VWA1 nsv545000 1 1346413 1498897 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708584 M 17421 0 1 ANKRD65,ATAD3A,ATAD3B,ATAD3C,SSU72,TMEM240,TMEM88B,VWA1 esv24333 1 1352293 1353399 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10423 M 40 1 0 TMEM88B NA06985 esv3389517 1 1352541 1353522 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652040 M 185 1 0 TMEM88B NA19240 nsv545001 1 1366010 1421661 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708585 M 17421 0 1 ATAD3B,ATAD3C,VWA1 nsv482135 1 1374932 1395401 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558496 M 1 1 0 ATAD3C KB1 dgv34n54 1 1375074 1429557 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545008,nsv545009,nsv545005,nsv545006,nsv545003,nsv545004,nsv545007,nsv545002 M 17421 0 10 ATAD3B,ATAD3C nsv945742 1 1375183 1388543 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749484,nssv1750430,nssv1750488,nssv1750434,nssv1750428,nssv1750446,nssv1750419,nssv1750431,nssv1750417,nssv1750420,nssv1749478,nssv1750461,nssv1750425,nssv1750445,nssv1750487,nssv1750464,nssv1749481,nssv1750471,nssv1749487,nssv1750435,nssv1749475,nssv1750493,nssv1749486,nssv1750455,nssv1749471,nssv1750476,nssv1750481,nssv1750458,nssv1750486,nssv1750457,nssv1749476,nssv1750432,nssv1750421,nssv1750456,nssv1749485,nssv1750450,nssv1749480,nssv1750452,nssv1750412,nssv1750470,nssv1750483,nssv1750453,nssv1749479,nssv1750501,nssv1749477,nssv1750492,nssv1750490,nssv1750497,nssv1750480,nssv1750443,nssv1750416,nssv1750439,nssv1750479,nssv1750442,nssv1750426,nssv1750466,nssv1750482,nssv1750475,nssv1749474,nssv1750437,nssv1750414,nssv1750477,nssv1750413,nssv1750468,nssv1750489,nssv1750460,nssv1750415,nssv1750463,nssv1749473,nssv1750494,nssv1749482,nssv1750469,nssv1750433,nssv1750449,nssv1750474,nssv1750499,nssv1750491,nssv1750465,nssv1750454,nssv1750448,nssv1750444,nssv1750424,nssv1750495,nssv1749470,nssv1750500,nssv1750441,nssv1750459,nssv1750427,nssv1750472,nssv1750478,nssv1750423,nssv1750447,nssv1750422,nssv1750438,nssv1750436,nssv1750498,nssv1750467 M 97 10 0 ATAD3C HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv482146 1 1397027 1421444 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558507 M 1 1 0 ATAD3B KB1 nsv945743 1 1401450 1416132 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750594,nssv1750546,nssv1750516,nssv1750583,nssv1750526,nssv1750531,nssv1750592,nssv1750555,nssv1750593,nssv1750561,nssv1750513,nssv1750535,nssv1750504,nssv1750556,nssv1750590,nssv1750567,nssv1750536,nssv1750548,nssv1750533,nssv1750608,nssv1750528,nssv1750527,nssv1750505,nssv1750585,nssv1750506,nssv1750541,nssv1750508,nssv1750581,nssv1750514,nssv1750580,nssv1750534,nssv1750530,nssv1750510,nssv1750575,nssv1750589,nssv1750547,nssv1750503,nssv1750586,nssv1750591,nssv1750543,nssv1750519,nssv1750544,nssv1750520,nssv1750554,nssv1750588,nssv1750582,nssv1750512,nssv1750563,nssv1750525,nssv1750579,nssv1750509,nssv1750601,nssv1750511,nssv1750538,nssv1750524,nssv1750502,nssv1750522,nssv1750574,nssv1750521,nssv1750569,nssv1750515,nssv1750571,nssv1750587,nssv1750566,nssv1750598,nssv1750550,nssv1750597,nssv1750558,nssv1750523,nssv1750570,nssv1750517,nssv1750603,nssv1750609,nssv1750549,nssv1750552,nssv1750600,nssv1750565,nssv1750559,nssv1750602,nssv1750576,nssv1750564,nssv1750604,nssv1750560,nssv1750578,nssv1750537,nssv1750572,nssv1750606,nssv1750553,nssv1750568,nssv1750542,nssv1750545,nssv1750539,nssv1750557,nssv1750599,nssv1750532,nssv1750605,nssv1750577 M 97 10 0 ATAD3B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv1254392 1 1403212 1403212 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3989689 M 2 1 0 ATAD3B HuRef esv25832 1 1404772 1406058 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11756 M 40 0 3 ATAD3B NA18511,NA18523,NA18861 nsv545010 1 1404962 1443784 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708596 M 17421 0 1 ATAD3A,ATAD3B nsv945744 1 1422231 1455449 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750624,nssv1750645,nssv1750696,nssv1750665,nssv1750702,nssv1750714,nssv1750621,nssv1750663,nssv1750625,nssv1750649,nssv1750634,nssv1750710,nssv1750620,nssv1750659,nssv1750611,nssv1750657,nssv1750623,nssv1750680,nssv1750701,nssv1750675,nssv1750697,nssv1750647,nssv1750698,nssv1750653,nssv1750703,nssv1750676,nssv1750694,nssv1750711,nssv1750636,nssv1750705,nssv1750613,nssv1750715,nssv1750615,nssv1750660,nssv1750641,nssv1750682,nssv1750617,nssv1750654,nssv1750612,nssv1750664,nssv1750616,nssv1750713,nssv1750614,nssv1750638,nssv1750699,nssv1750689,nssv1750627,nssv1750648,nssv1750622,nssv1750637,nssv1750626,nssv1750643,nssv1750704,nssv1750688,nssv1750632,nssv1750656,nssv1750633,nssv1750693,nssv1750619,nssv1750670,nssv1750700,nssv1750674,nssv1750628,nssv1750610,nssv1750630,nssv1750635,nssv1750642,nssv1750686,nssv1750631,nssv1750708,nssv1750644,nssv1750681,nssv1750650,nssv1750661,nssv1750709,nssv1750652,nssv1750685,nssv1750687,nssv1750655,nssv1750677,nssv1750679,nssv1750669,nssv1750672,nssv1750639,nssv1750692,nssv1750671,nssv1750716,nssv1750691,nssv1750678,nssv1750646,nssv1750690,nssv1750683,nssv1750712,nssv1750666,nssv1750658,nssv1750668,nssv1750667 M 97 10 0 ATAD3A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv821809 1 1433831 1437382 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1428013 M 31 1 0 "" AK10 nsv821920 1 1433831 1453689 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440791 M 31 1 0 ATAD3A NA18969 nsv482157 1 1437418 1459927 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558518 M 1 1 0 ATAD3A KB1 esv3418946 1 1462852 1463850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691939 M 185 1 0 TMEM240 NA19239 esv1301718 1 1468970 1468970 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3821253 M 2 1 0 SSU72 HuRef nsv472762 1 1486468 1486468 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015897 M 9 1 0 SSU72 NA18555 esv2760410 1 1490804 1677547 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7028856,essv7028634,essv7029523,essv7027745,essv7029412,essv7014077,essv7029856,essv7017410,essv7030523,essv7010743,essv7027301,essv7029079,essv7029634,essv7025188,essv7027079,essv7028523,essv7011854,essv7027968,essv7021854,essv7028190,essv7028301,essv7030190,essv7016299,essv7027523,essv7028412,essv7019632,essv7015188,essv7022965,essv7029745,essv7027857,essv7009632,essv7012966,essv7029190,essv7026299,essv7030634,essv7029301,essv7030301,essv7027190,essv7018521,essv7029967,essv7030412,essv7028745,essv7028968,essv7020743,essv7030079,essv7024077,essv7028079,essv7027412,essv7027634 M 1109 8 41 C1orf233,CDK11A,CDK11B,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 SW_0020,SW_0058,SW_0060,SW_0061,SW_0062,SW_0072,SW_0086,SW_0119,SW_0120,SW_0144,SW_0187,SW_0198,SW_0200,SW_0589,SW_0639,SW_0648,SW_0760,SW_0773,SW_0789,SW_0805,SW_0818,SW_0831,SW_0856,SW_1083,SW_1086,SW_1103,SW_1120,SW_1139,SW_1147,SW_1149,SW_1156,SW_1189,SW_1243,SW_1262,SW_1289,SW_1302,SW_1335,SW_1366,SW_1372,SW_1396,SW_1404,SW_1414,SW_1428,SW_1436,SW_1448,SW_1455,SW_1459,SW_1483,SW_1485 esv1010850 1 1490872 1490872 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3572228 M 3 1 0 SSU72 HuRef dgv8n100 1 1494592 1662451 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002038,nsv1011271 M 29084 0 6 C1orf233,CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2,SLC35E2B,SSU72 esv998174 1 1530713 1531833 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586347 M 3 1 0 "" HuRef esv23829 1 1530793 1531833 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15071 M 40 0 3 "" NA12006,NA12878,NA18916 dgv35n54 1 1530820 1531452 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545012,nsv545011 M 17421 2 0 "" dgv36n54 1 1530820 1531735 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545016,nsv545015,nsv545013,nsv545014 M 17421 5 0 "" nsv545017 1 1540565 1585061 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708604 M 17421 0 1 CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B nsv822031 1 1542495 1543199 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434858 M 31 0 1 MIB2 NA18942 esv27786 1 1557744 1673566 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17198 M 40 1 0 CDK11A,CDK11B,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B NA12828 nsv545018 1 1563724 1609404 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708605 M 17421 0 1 CDK11B,SLC35E2B esv3390461 1 1570952 1573350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691995 M 185 1 0 CDK11B NA12878 esv1336011 1 1574409 1574409 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4160103 M 2 1 0 CDK11B HuRef dgv3n67 1 1575237 1657017 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv822253,nsv822142,nsv822364 M 31 3 0 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA18542,NA18566,NA18582 nsv947410 1 1578397 1585129 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2765284,nssv2760684,nssv2763764,nssv2766296,nssv2761730,nssv2762239,nssv2758644,nssv2764181,nssv2765500,nssv2759096 M 97 9 0 CDK11B,SLC35E2B HGDP00456,HGDP00521,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv37n54 1 1585061 1617847 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545019,nsv545025,nsv545023,nsv545024 M 17421 0 4 CDK11B,SLC35E2B dgv38n54 1 1585061 1634768 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545020,nsv545021 M 17421 3 0 CDK11A,CDK11B,MMP23A,SLC35E2B nsv545022 1 1586883 1605211 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708610 M 17421 0 1 CDK11B,SLC35E2B esv1758309 1 1588294 1588461 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3827771 M 2 0 1 CDK11B,SLC35E2B HuRef nsv545026 1 1592650 1627865 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708614 M 17421 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B nsv945745 1 1593232 1595526 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751728,nssv1751700,nssv1751676,nssv1751701,nssv1751655,nssv1751699,nssv1751654,nssv1751691,nssv1751656,nssv1751681,nssv1751672,nssv1751718,nssv1751663,nssv1749116,nssv1751726,nssv1751678,nssv1749112,nssv1751715,nssv1751729,nssv1751687,nssv1749111,nssv1751670,nssv1751666,nssv1749117,nssv1749113,nssv1751679,nssv1751662,nssv1751704,nssv1751673,nssv1751705,nssv1751727,nssv1749118,nssv1751646,nssv1751710,nssv1749109,nssv1751714,nssv1751647,nssv1751702,nssv1751651,nssv1751690,nssv1751668,nssv1751709,nssv1751731,nssv1751674,nssv1751648,nssv1751693,nssv1751659,nssv1751683,nssv1749110,nssv1751667,nssv1750719,nssv1751685,nssv1751650,nssv1751721,nssv1751649,nssv1751684,nssv1751644,nssv1751720,nssv1751657,nssv1751695,nssv1751652,nssv1749114,nssv1751658,nssv1749115,nssv1751661,nssv1751671,nssv1751660,nssv1751688,nssv1751665,nssv1751696,nssv1751645,nssv1751706,nssv1751689,nssv1751725,nssv1751677,nssv1751703,nssv1751716,nssv1751722,nssv1749123,nssv1751698,nssv1749121,nssv1751682,nssv1749122,nssv1751711,nssv1750717,nssv1751713,nssv1751692,nssv1751712,nssv1751724,nssv1751707,nssv1751680,nssv1751723,nssv1751717,nssv1749119,nssv1751669,nssv1749120,nssv1751694 M 97 10 0 CDK11B,SLC35E2B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv16e59 1 1603152 1603450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3330776,esv3412710 M 185 2 0 CDK11B,SLC35E2B NA19239,NA19240 esv6099 1 1605077 1605264 CNV gain Ahn_et_al_2009 19470904 Sequencing essv28540 M 1 0 0 CDK11B,SLC35E2B nsv545027 1 1609404 1653984 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708616,nssv708615 M 17421 0 2 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B dgv39n54 1 1610720 1643532 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545028,nsv545029 M 17421 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B nsv545030 1 1610720 1695996 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708619 M 17421 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B dgv9n100 1 1617766 1677788 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003869,nsv998152,nsv1007850 M 29084 0 4 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv1011683 1 1617766 1678052 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471705 M 29084 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv1003545 1 1617766 1682181 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477823,nssv3467704 M 29084 1 1 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 esv2764265 1 1617778 1662463 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004884,essv7004885,essv7004895,essv7004883,essv7004897,essv7004905,essv7004909,essv7004904,essv7004907,essv7004899,essv7004891,essv7004894,essv7004893,essv7004880,essv7004912,essv7004901,essv7004892,essv7004896,essv7004882,essv7004881,essv7004886,essv7004888,essv7004898,essv7004908,essv7004910,essv7004902,essv7004906,essv7004903,essv7004890,essv7004887 M 1109 2 27 CDK11A,CDK11B,MMP23A,SLC35E2 RW_0007,RW_0008,RW_0057,RW_0062,RW_0075,RW_0108,RW_0119,RW_0137,RW_0154,RW_0162,RW_0166,RW_0179,RW_0186,RW_0203,RW_0221,RW_0276,RW_0324,RW_0341,RW_0359,RW_0510,RW_0512,RW_0523,RW_0529,RW_0533,RW_0560,RW_0645,RW_0646,RW_0662,RW_0663 nsv442858 1 1617778 1662463 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617569,nssv1617558,nssv1617168,nssv1617380,nssv1617580,nssv1617414,nssv1617425,nssv1617625,nssv1617358,nssv1617279,nssv1617491,nssv1617614,nssv1617536,nssv1617436,nssv1617403,nssv1617503,nssv1617547,nssv1617458,nssv1617469,nssv1617447,nssv1617525,nssv1616835,nssv1617591,nssv1617369,nssv1617057,nssv1617392,nssv1617636,nssv1617480,nssv1616946,nssv1617514,nssv1617602 M 270 6 25 CDK11A,CDK11B,MMP23A,SLC35E2 NA07056,NA10835,NA10839,NA12003,NA12006,NA12144,NA12248,NA12740,NA12750,NA12751,NA12762,NA18504,NA18523,NA18537,NA18552,NA18582,NA18620,NA18632,NA18635,NA18852,NA18854,NA18940,NA18976,NA18994,NA19144,NA19145,NA19200,NA19204,NA19205,NA19207,NA19208 nsv545031 1 1617847 1675900 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708620 M 17421 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv436343 1 1619478 1674040 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466028 M 2 0 1 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 NA18505 nsv834091 1 1622658 1801937 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443851 M 95 0 1 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 nsv482168 1 1624030 1645651 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558529 M 1 1 0 CDK11A,CDK11B KB1 nsv822475 1 1624860 1670445 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1439447 M 31 1 0 CDK11A,CDK11B,SLC35E2 NA18537 nsv822586 1 1625061 1640673 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1438578 M 31 1 0 CDK11A,CDK11B NA18973 nsv822697 1 1625065 1657017 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1422355 M 31 0 1 CDK11A,CDK11B,SLC35E2 NA18552 nsv545032 1 1627865 1653984 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708621,nssv708624,nssv708622,nssv708623 M 17421 0 4 CDK11A,CDK11B,SLC35E2 dgv40n54 1 1627865 1670302 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545034,nsv545033,nsv545037 M 17421 0 5 CDK11A,CDK11B,SLC35E2 dgv41n54 1 1634768 1661642 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545036,nsv545035 M 17421 0 3 CDK11A,CDK11B,SLC35E2 nsv822809 1 1637729 1657017 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431056 M 31 0 1 CDK11A,CDK11B,SLC35E2 AK18 nsv509368 1 1638191 1638191 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623768 M 4 1 0 CDK11A,CDK11B NA18994 nsv436733 1 1638486 1638555 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466139 M 2 1 0 CDK11A,CDK11B NA18505 nsv159838 1 1638886 1638936 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178416 M 24 CDK11A,CDK11B esv988165 1 1638911 1638961 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570116 M 3 0 1 CDK11A,CDK11B HuRef esv1455500 1 1638923 1638974 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4050580 M 2 0 1 CDK11A,CDK11B HuRef nsv160496 1 1638954 1639004 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179074 M 24 CDK11A,CDK11B esv6106 1 1639310 1640649 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28547 M 1 0 0 CDK11A,CDK11B nsv160062 1 1639576 1640537 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178640 M 24 CDK11A,CDK11B nsv160158 1 1640463 1640463 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178736 M 24 CDK11A,CDK11B dgv42n54 1 1648805 1673425 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545039,nsv545038 M 17421 0 2 NADK,SLC35E2 nsv545040 1 1653879 1661642 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708635,nssv708636 M 17421 0 2 SLC35E2 nsv945747 1 1655974 1658447 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750171,nssv1750163,nssv1750141,nssv1750159,nssv1749156,nssv1749178,nssv1750175,nssv1749163,nssv1750129,nssv1749166,nssv1750167,nssv1750162,nssv1750115,nssv1749160,nssv1750152,nssv1749159,nssv1750155,nssv1750160,nssv1750106,nssv1749175,nssv1750128,nssv1750104,nssv1750137,nssv1749161,nssv1750125,nssv1749176,nssv1750146,nssv1749170,nssv1750135,nssv1749162,nssv1750122,nssv1750165,nssv1750145,nssv1749172,nssv1750110,nssv1749177,nssv1750117,nssv1749168,nssv1750131,nssv1750161,nssv1750143,nssv1750111,nssv1750149,nssv1750157,nssv1750113,nssv1750166,nssv1750156,nssv1750109,nssv1750105,nssv1749164,nssv1749179,nssv1749173,nssv1750127,nssv1749174,nssv1750136,nssv1749167,nssv1750120,nssv1750164,nssv1750139,nssv1749165,nssv1750172,nssv1750158,nssv1750176,nssv1749169,nssv1750134,nssv1750108,nssv1750123,nssv1749157,nssv1750153,nssv1749158,nssv1750119,nssv1749171,nssv1750169,nssv1750150,nssv1750151,nssv1750132,nssv1750114,nssv1750118,nssv1750173,nssv1750170,nssv1750121,nssv1750154,nssv1750142,nssv1750130,nssv1750174,nssv1750112,nssv1750148,nssv1750147,nssv1750140,nssv1750126,nssv1750107,nssv1750133,nssv1750116,nssv1750138,nssv1750144,nssv1750168,nssv1750124 M 97 10 0 SLC35E2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3408726 1 1670906 1670927 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863669,essv7863670 M 185 2 0 "" NA11992,NA18522 esv1736683 1 1670927 1670927 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3785632 M 2 1 0 "" HuRef nsv945749 1 1673156 1681726 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750183,nssv1750187,nssv1750179,nssv1750181,nssv1750184,nssv1750185,nssv1750186,nssv1750182,nssv1750178,nssv1750180,nssv1750177 M 97 10 0 NADK HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545041 1 1674332 1701558 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708637 M 17421 0 1 NADK dgv10n100 1 1701274 1805841 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011008,nsv1007257 M 29084 2 0 GNB1,NADK nsv834335 1 1734770 1923265 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443962 M 95 0 1 CALML6,GNB1,KIAA1751,TMEM52 esv2619193 1 1760874 1767320 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5309496 M 1 0 1 GNB1 NA18507 nsv478764 1 1777692 1777692 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015949 M 9 1 0 GNB1 NA18507 nsv10272 1 1810314 1813172 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv21432,nssv21437,nssv21422,nssv24607,nssv18097,nssv24617,nssv26884,nssv28044,nssv21440,nssv28535,nssv28034,nssv21434,nssv28930,nssv28028,nssv21425,nssv29276,nssv24619 M 31 17 0 GNB1 NA07029,NA07048,NA10847,NA10863,NA11830,NA12740,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA19007,NA19144,NA19173 dgv17e59 1 1819252 1820350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3359268,esv3369206 M 185 2 0 "" NA19239,NA19240 nsv10383 1 1836475 1849741 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24603 M 31 1 0 CALML6,TMEM52 NA18502 esv2587332 1 1850375 1850824 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5262341 M 1 1 0 "" NA18507 esv3380384 1 1850479 1850828 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652057 M 185 1 0 "" NA19240 nsv512709 1 1850584 1850724 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625333 M 1 1 0 "" 1 esv6744 1 1856113 1857084 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29185 M 1 0 0 "" esv5421 1 1856164 1857032 CNV loss Wang_et_al_2008 18987735 Sequencing essv27862 M 1 0 1 "" YH esv3385307 1 1859052 1860650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692082 M 185 1 0 "" NA19240 nsv834446 1 1881903 2077734 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444073 M 95 0 1 GABRD,KIAA1751,PRKCZ esv2381744 1 1889056 1889385 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4505691 M 1 0 1 KIAA1751 NA18507 esv3385175 1 1892052 1892850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692084 M 185 1 0 KIAA1751 NA19240 dgv43n54 1 1900231 1901077 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545042,nsv545043 M 17421 0 2 KIAA1751 esv25575 1 1900237 1903790 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv13192,esv17032,esv21134 M 40 2 20 KIAA1751 NA06985,NA07037,NA11993,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18517,NA18858,NA18861,NA18916,NA19114,NA19147,NA19190,NA19257 nsv545044 1 1900438 1901179 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708640 M 17421 1 0 KIAA1751 esv994854 1 1902795 1903600 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586225 M 3 0 1 KIAA1751 HuRef esv1576320 1 1903185 1903185 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4312046 M 2 1 0 KIAA1751 HuRef esv1718201 1 1915018 1915018 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4140788 M 2 1 0 KIAA1751 HuRef nsv822920 1 1978127 1980416 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436323 M 31 1 0 PRKCZ NA18542 nsv2520 1 1984593 2010920 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1058 M 9 1 0 PRKCZ NA19240 nsv509479 1 1993610 2098297 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619762,nssv619761 M 4 1 0 PRKCZ NA10860 esv1002714 1 2006889 2006889 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575233 M 3 1 0 PRKCZ HuRef esv1162822 1 2007081 2007081 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3941411 M 2 1 0 PRKCZ HuRef nsv3631 1 2012604 2046812 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7778 M 9 1 0 PRKCZ NA12156 nsv470681 1 2013924 2103425 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547651 M 443 0 1 PRKCZ HGDP00697 esv27078 1 2014403 2017263 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16667 M 40 0 2 PRKCZ NA18508,NA19240 esv4759 1 2027516 2028082 CNV loss Wang_et_al_2008 18987735 Sequencing essv27200 M 1 0 1 PRKCZ YH dgv1e194 1 2027609 2028133 CNV deletion Bentley_et_al_2008 18987734 Sequencing esv2345828,esv1927480 M 1 0 1 PRKCZ NA18507 nsv160060 1 2028171 2028171 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178638 M 24 PRKCZ nsv460616 1 2030796 2079386 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537157 M 1557 0 1 PRKCZ NINDS_69 nsv545045 1 2030796 2079386 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172578 M 17421 0 1 PRKCZ NINDS_69 esv2196740 1 2031279 2031631 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4845456 M 1 0 1 PRKCZ NA18507 nsv834557 1 2038930 2232403 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444962,nssv1445073,nssv1445295,nssv1445184,nssv1444851,nssv1444406,nssv1444739,nssv1444184,nssv1444295,nssv1444517,nssv1444628 M 95 0 11 C1orf86,PRKCZ,SKI esv2492368 1 2042381 2042872 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5343806 M 1 1 0 PRKCZ NA18507 esv3388837 1 2042552 2045750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692102 M 185 1 0 PRKCZ NA19239 esv26913 1 2042821 2045835 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv15600,esv18512 M 40 7 20 PRKCZ NA06985,NA07037,NA07045,NA11931,NA12004,NA12006,NA12287,NA12489,NA12828,NA12878,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821592 1 2042821 2045905 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420402 M 1 0 1 PRKCZ NA10851 dgv44n54 1 2043065 2045233 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545052,nsv545049,nsv545046,nsv545056 M 17421 0 22 PRKCZ dgv45n54 1 2043065 2045498 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545051,nsv545050,nsv545047,nsv545058,nsv545054,nsv545048 M 17421 18 0 PRKCZ esv2505453 1 2043244 2045972 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5233482 M 1 0 1 PRKCZ NA18507 esv4841 1 2043376 2045793 CNV loss Wang_et_al_2008 18987735 Sequencing essv27282 M 1 0 1 PRKCZ YH dgv46n54 1 2043441 2045361 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545060,nsv545053,nsv545057 M 17421 32 16 PRKCZ esv1008133 1 2043483 2045670 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586410 M 3 1 0 PRKCZ HuRef nsv545055 1 2043617 2045110 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708673 M 17421 1 0 PRKCZ dgv47n54 1 2043940 2045361 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545061,nsv545059 M 17421 0 7 PRKCZ esv1138741 1 2044405 2044513 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3618162 M 2 0 1 PRKCZ HuRef nsv545062 1 2044575 2067732 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708737 M 17421 0 1 PRKCZ esv2313378 1 2063576 2063899 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4884634 M 1 0 1 PRKCZ NA18507 esv4294 1 2063591 2063822 CNV loss Wang_et_al_2008 18987735 Sequencing essv26735 M 1 0 1 PRKCZ YH dgv48n54 1 2072349 2172330 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545065,nsv545063 M 17421 0 2 C1orf86,PRKCZ,SKI 1780862101_A nsv461727 1 2072349 2172330 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538084 M 1557 0 1 C1orf86,PRKCZ,SKI 1780862101_A dgv49n54 1 2072349 2211082 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545064,nsv545066 M 17421 0 2 C1orf86,PRKCZ,SKI dgv18e59 1 2075852 2077250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3377460,esv3434245 M 185 2 0 PRKCZ NA19239,NA19240 nsv470682 1 2109693 2300053 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547654,nssv547652,nssv547657,nssv547653,nssv547655 M 443 0 5 C1orf86,LOC100129534,MORN1,SKI HGDP00288,HGDP00313,HGDP00546,HGDP00657,HGDP00978 nsv818111 1 2130121 2146222 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417805 M 112 0 1 C1orf86 NA18853 nsv463949 1 2130121 2184977 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv539962 M 1557 0 1 C1orf86,SKI 1780862414_A nsv545067 1 2130121 2184977 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172580 M 17421 0 1 C1orf86,SKI 1780862414_A nsv834668 1 2145626 2314237 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1448295,nssv1446184,nssv1448628,nssv1447184,nssv1448184,nssv1445628,nssv1449295,nssv1450406,nssv1447073,nssv1447850,nssv1449406,nssv1446073,nssv1447406,nssv1447628,nssv1446961,nssv1449183,nssv1450183,nssv1448850,nssv1448072,nssv1450294,nssv1449961,nssv1450628,nssv1447517,nssv1449850,nssv1445850,nssv1448961,nssv1450072,nssv1450517,nssv1448739,nssv1449517,nssv1446406,nssv1445739,nssv1446295,nssv1445517,nssv1448517,nssv1446517,nssv1447295,nssv1449739,nssv1448406,nssv1446628,nssv1445406,nssv1446850,nssv1445962,nssv1447739,nssv1447961,nssv1449072,nssv1449628,nssv1446739 M 95 0 48 LOC100129534,MORN1,RER1,SKI esv2648351 1 2148325 2150352 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5208944 M 1 0 1 SKI NA18507 nsv465060 1 2170384 2210509 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv540916 M 1557 0 1 SKI HGDP01351 nsv545068 1 2170384 2210509 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172581 M 17421 0 1 SKI HGDP01351 nsv545069 1 2172330 2212443 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708741 M 17421 1 0 SKI nsv528621 1 2188917 2201709 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705251 M 2026 0 1 SKI nsv545070 1 2188917 2221323 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708742 M 17421 0 1 SKI nsv545071 1 2194615 2214696 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708743 M 17421 1 0 SKI esv22780 1 2201920 2204035 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv20675 M 40 4 10 SKI NA06985,NA11931,NA11993,NA12006,NA12239,NA12287,NA18508,NA18517,NA18523,NA18909,NA18916,NA19108,NA19240,NA19257 esv1252402 1 2202020 2202233 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3979301 M 2 0 1 SKI HuRef esv1536883 1 2202501 2202588 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3775323 M 2 0 1 SKI HuRef esv1025209 1 2202650 2202865 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4025462 M 2 0 1 SKI HuRef esv1682069 1 2202878 2203136 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4061538 M 2 0 1 SKI HuRef esv1164473 1 2203161 2203247 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3589181 M 2 0 1 SKI HuRef nsv823031 1 2224073 2256165 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426364 M 31 1 0 MORN1,SKI AK6 nsv4742 1 2226024 2272062 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8452,nssv1955,nssv5660,nssv3953,nssv10842 M 9 5 0 LOC100129534,MORN1,SKI NA12156,NA12878,NA18555,NA18956,NA19129 dgv4n67 1 2227388 2231840 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv823586,nsv823142,nsv823253,nsv823475 M 31 4 0 SKI AK12,NA18564,NA18951,NA18969 nsv823364 1 2228155 2230862 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1437213 M 31 1 0 SKI NA18949 esv2502867 1 2245558 2248109 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5196708 M 1 0 1 MORN1 NA18507 nsv1003233 1 2270283 2325365 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696757 M 29084 1 0 LOC100129534,MORN1,RER1 nsv520511 1 2297341 2298942 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697462 M 2026 0 1 MORN1 nsv823697 1 2310992 2327218 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426365 M 31 1 0 MORN1,PEX10,RER1 AK6 nsv470684 1 2315869 2837348 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547671,nssv547662,nssv547664,nssv547666,nssv547669,nssv547668,nssv547660,nssv547670,nssv547661,nssv547663,nssv547659,nssv547665,nssv547658 M 443 0 12 FAM213B,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PEX10,PLCH2,RER1,TNFRSF14,TTC34 HGDP00288,HGDP00290,HGDP00302,HGDP00313,HGDP00333,HGDP00546,HGDP00550,HGDP00556,HGDP00657,HGDP00661,HGDP00789,HGDP00978 esv2631918 1 2322112 2323107 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5353074 M 1 1 0 RER1 NA18507 nsv545072 1 2322891 2396747 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708744 M 17421 0 1 PEX10,RER1 dgv1n27 1 2322891 2440254 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv467282,nsv466171 M 1557 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 dgv50n54 1 2322891 2440254 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545073,nsv545074 M 17421 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 nsv512710 1 2323086 2323243 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625334 M 1 1 0 RER1 1 nsv823808 1 2324440 2325694 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436324 M 31 1 0 RER1 NA18542 nsv545075 1 2349841 2380064 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708745 M 17421 0 1 "" nsv470685 1 2349841 2440254 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547672 M 443 1 0 PANK4,PLCH2 HGDP00720 nsv545076 1 2349841 2456493 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708746 M 17421 1 0 HES5,PANK4,PLCH2 nsv545077 1 2349841 2543484 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708747 M 17421 1 0 FAM213B,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PLCH2,TNFRSF14 nsv545078 1 2356176 2420917 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172584 M 17421 0 1 PLCH2 HGDP00823 nsv998482 1 2359358 2448659 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479094 M 29084 0 1 PANK4,PLCH2 esv3444937 1 2361603 2362016 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652069 M 185 1 0 "" NA19240 esv988545 1 2361810 2361879 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577413 M 3 0 1 "" HuRef esv1513739 1 2361857 2361857 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4248036 M 2 1 0 "" HuRef esv2758914 1 2366114 2370109 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757718 M 270 0 1 "" NA18508 esv25748 1 2380073 2381162 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12176,esv15167 M 40 0 12 "" NA06985,NA11894,NA12004,NA12239,NA12287,NA18511,NA18858,NA18909,NA18916,NA19129,NA19147,NA19240 nsv545079 1 2380448 2440254 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708748 M 17421 0 1 PANK4,PLCH2 esv989190 1 2383548 2383548 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3583245 M 3 1 0 "" HuRef esv1307242 1 2383637 2383637 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3609131 M 2 1 0 "" HuRef nsv545080 1 2385312 2486265 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708749 M 17421 0 1 HES5,LOC100133445,LOC115110,PANK4,PLCH2,TNFRSF14 nsv545081 1 2396747 2436740 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172585 M 17421 0 1 PANK4,PLCH2 HGDP01048 nsv823920 1 2403604 2473701 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440793 M 31 1 0 HES5,LOC115110,PANK4,PLCH2 NA18969 nsv818222 1 2413982 2480088 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417806,nssv1417514 M 112 0 2 HES5,LOC115110,PANK4,PLCH2,TNFRSF14 NA18853,NA18968 nsv7171 1 2433858 2527931 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10880,nssv10864,nssv4052,nssv9287,nssv5743,nssv4140,nssv2141,nssv6533,nssv9849,nssv9802,nssv5821,nssv2047,nssv1241,nssv1153,nssv6621,nssv10990 M 9 0 0 FAM213B,HES5,LOC100133445,LOC115110,MMEL1,PANK4,TNFRSF14 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv824031 1 2442099 2472957 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426366 M 31 1 0 HES5,LOC115110,PANK4 AK6 esv2583485 1 2443495 2444308 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5387623 M 1 1 0 PANK4 NA18507 esv3402792 1 2444073 2444291 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652074 M 185 1 0 PANK4 NA19240 esv1165961 1 2444115 2444115 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3796592 M 2 1 0 PANK4 HuRef nsv1 1 2446450 2478865 OTHER inversion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv1 M 1 0 0 HES5,LOC115110,PANK4 NA15510 nsv545082 1 2457530 2518542 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708750 M 17421 0 1 FAM213B,LOC100133445,LOC115110,MMEL1,TNFRSF14 esv996586 1 2471782 2490872 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564272 M 3 0 0 LOC100133445,LOC115110,TNFRSF14 HuRef dgv1n50 1 2472748 2489106 OTHER inversion Arlt_et_al_2011 21212237 Sequencing,SNP array nsv513633,nsv513632 M 1 0 0 LOC100133445,LOC115110,TNFRSF14 1 esv2471749 1 2473764 2490238 OTHER inversion McKernan_et_al_2009 19546169 Sequencing essv5165573 M 1 0 0 LOC100133445,LOC115110,TNFRSF14 NA18507 dgv1n47 1 2474521 2489757 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nsv499113,nsv499569,nsv499637 M 9 0 0 LOC100133445,TNFRSF14 esv1699286 1 2475133 2489144 OTHER inversion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4270452 M 2 0 0 LOC100133445,TNFRSF14 HuRef esv3447351 1 2475508 2490470 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808959 M 185 0 0 LOC100133445,TNFRSF14 NA12878 dgv5n67 1 2476434 2478083 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv824253,nsv824142 M 31 0 2 "" AK20,NA18972 nsv436691 1 2477117 2490251 OTHER inversion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466250 M 2 0 0 LOC100133445,TNFRSF14 NA18505 nsv829648 1 2477440 2562200 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1450739 M 95 0 1 FAM213B,LOC100133445,MMEL1,TNFRSF14 nsv824364 1 2480304 2481406 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434859 M 31 0 1 TNFRSF14 NA18942 nsv824475 1 2480963 2481406 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431952 M 31 0 1 TNFRSF14 NA18972 nsv545083 1 2497275 2574398 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708751 M 17421 1 0 FAM213B,MMEL1,TTC34 nsv428399 1 2543838 3142350 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv452575 M 62 1 0 ACTRT2,LINC00982,MIR4251,MMEL1,PRDM16,TTC34 HGDP00450 dgv19e59 1 2551452 2552650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3368203,esv3399585 M 185 2 0 MMEL1 NA19239,NA19240 esv21805 1 2555784 2624042 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv12016,esv21190,esv18116,esv12824,esv12744,esv16589 M 40 23 8 TTC34 NA06985,NA07037,NA07045,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19190,NA19225,NA19240 nsv511152 1 2555862 2556342 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626021 M 1 0 1 "" 1 esv1931226 1 2555889 2556583 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4612274 M 1 0 1 "" NA18507 esv1624207 1 2556377 2556377 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4164733 M 2 1 0 "" HuRef esv994553 1 2562327 2573939 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565426 M 3 1 0 TTC34 HuRef nsv824586 1 2570328 2573301 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1438579 M 31 1 0 TTC34 NA18973 nsv545084 1 2571901 2576163 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708752 M 17421 0 1 TTC34 nsv545085 1 2572200 2576163 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708753 M 17421 1 0 TTC34 nsv161117 1 2572889 2573455 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179695 M 24 TTC34 dgv20e59 1 2572952 2624050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3380852,esv3450152,esv3414646,esv3429744,esv3350831,esv3435510 M 185 6 0 TTC34 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 dgv1n6 1 2573419 2580949 CNV deletion Mills_et_al_2006 16902084 Sequencing nsv160392,nsv160178 M 24 TTC34 esv1381913 1 2573430 2573430 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4214883 M 2 1 0 TTC34 HuRef nsv820462 1 2573460 2624042 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420513 M 1 1 0 TTC34 NA10851 nsv160953 1 2573560 2574160 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179531 M 24 TTC34 nsv160689 1 2573792 2574393 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179267 M 24 TTC34 esv999533 1 2574087 2574929 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3568762 M 3 0 1 TTC34 HuRef nsv159794 1 2574506 2576192 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178372 M 24 TTC34 nsv159997 1 2574735 2574895 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178575 M 24 TTC34 nsv160053 1 2575167 2575167 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178631 M 24 TTC34 esv8624 1 2575495 2619296 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31065 M 1 0 0 TTC34 nsv545086 1 2576163 2603322 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708754 M 17421 0 1 TTC34 dgv51n54 1 2576163 2617327 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545088,nsv545090,nsv545091,nsv545087,nsv545089 M 17421 0 5 TTC34 esv1995006 1 2577543 2599245 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4845344 M 1 0 1 TTC34 NA18507 esv999575 1 2577640 2610115 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575600 M 3 0 1 TTC34 HuRef nsv5853 1 2579130 2604293 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9998,nssv5901 M 9 2 0 TTC34 NA18956,NA19129 esv1159004 1 2583107 2583107 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3785302 M 2 1 0 TTC34 HuRef esv1780740 1 2583565 2583646 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4117042 M 2 0 1 TTC34 HuRef esv1286791 1 2583736 2583816 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3745617 M 2 0 1 TTC34 HuRef esv1001627 1 2583755 2584637 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584427 M 3 0 1 TTC34 HuRef esv1366162 1 2585273 2585353 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3788684 M 2 0 1 TTC34 HuRef esv1701153 1 2585378 2585617 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4138724 M 2 0 1 TTC34 HuRef esv990905 1 2586613 2596446 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3573398 M 3 0 1 TTC34 HuRef esv1348726 1 2586686 2586686 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4133439 M 2 1 0 TTC34 HuRef esv992616 1 2586821 2591234 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3581681 M 3 0 1 TTC34 HuRef esv1068112 1 2587408 2587408 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3882975 M 2 1 0 TTC34 HuRef esv1134902 1 2588279 2588359 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3644540 M 2 0 1 TTC34 HuRef esv1460747 1 2589318 2589438 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860280 M 2 0 1 TTC34 HuRef esv1312498 1 2590097 2590337 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4349278 M 2 0 1 TTC34 HuRef esv997173 1 2591229 2591790 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566822 M 3 0 1 TTC34 HuRef esv1162144 1 2592696 2593218 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3966245 M 2 0 1 TTC34 HuRef esv1394797 1 2594300 2594381 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4279125 M 2 0 1 TTC34 HuRef nsv160294 1 2594341 2598916 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178872 M 24 TTC34 esv1779754 1 2595041 2595041 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3803937 M 2 1 0 TTC34 HuRef esv993173 1 2599619 2600180 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584575 M 3 0 1 TTC34 HuRef nsv159383 1 2600428 2606129 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177961 M 24 TTC34 esv989273 1 2601373 2604262 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575900 M 3 0 1 TTC34 HuRef nsv545092 1 2604428 2623158 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708760 M 17421 1 0 TTC34 esv6961 1 2605367 2619135 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29402 M 1 0 0 TTC34 nsv159584 1 2606315 2606675 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178162 M 24 TTC34 nsv6964 1 2606625 2608044 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6711 M 9 1 0 TTC34 NA12156 nsv160877 1 2607837 2613499 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179455 M 24 TTC34 nsv7534 1 2608380 2611159 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4235 M 9 1 0 TTC34 NA12878 nsv160247 1 2610167 2612535 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178825 M 24 TTC34 nsv160029 1 2612675 2618697 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178607 M 24 TTC34 nsv160879 1 2612977 2615742 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179457 M 24 TTC34 nsv159137 1 2613123 2613243 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177715 M 24 TTC34 nsv160272 1 2613789 2622864 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178850 M 24 TTC34 nsv160341 1 2616150 2617033 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178919 M 24 TTC34 nsv545093 1 2616883 2621513 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708761 M 17421 1 0 TTC34 esv6481 1 2619795 2620399 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28922 M 1 0 0 TTC34 esv1095177 1 2622421 2622421 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3698632 M 2 1 0 TTC34 HuRef nsv160000 1 2622651 2622850 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178578 M 24 TTC34 nsv159461 1 2623124 2623966 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178039 M 24 TTC34 esv23086 1 2674115 2684820 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv19931,esv10077 M 40 12 2 TTC34 NA07037,NA12287,NA12489,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19190,NA19225,NA19240 nsv821258 1 2674115 2684900 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420624 M 1 1 0 TTC34 NA10851 nsv545094 1 2674362 2681125 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708762 M 17421 1 0 TTC34 dgv21e59 1 2675052 2681950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3330891,esv3418717,esv3419182,esv3448150,esv3409631,esv3347403 M 185 6 0 TTC34 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1006680 1 2679384 2679543 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3585900 M 3 0 1 TTC34 HuRef esv1125194 1 2679971 2680937 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4352306 M 2 0 1 TTC34 HuRef dgv11n100 1 2684293 3257197 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010950,nsv1010228 M 29084 2 0 ACTRT2,LINC00982,MIR4251,PRDM16,TTC34 nsv474526 1 2701425 2701425 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019475 M 9 1 0 "" NA18956 dgv12n100 1 2703187 2857932 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004395,nsv1009581,nsv1009684,nsv997701,nsv998848 M 29084 9 0 "" esv3363378 1 2726552 2726850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692269 M 185 1 0 "" NA19239 nsv469835 1 2730561 2912411 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1675009 M 265 0 1 "" esv2455629 1 2755817 2756685 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5201421 M 1 1 0 "" NA18507 esv1778376 1 2755889 2755889 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3921204 M 2 1 0 "" HuRef esv2606115 1 2758147 2759611 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5324371 M 1 0 1 "" NA18507 esv1145877 1 2758505 2758505 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4076825 M 2 1 0 "" HuRef nsv455662 1 2759402 2819411 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv533180 M 1557 0 1 "" HGDP00515 nsv545095 1 2759402 2819411 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172586 M 17421 0 1 "" HGDP00515 esv1008548 1 2762644 2765985 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564145 M 3 1 0 "" HuRef nsv1010795 1 2765030 2841098 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472022 M 29084 1 0 "" nsv521946 1 2776953 2778968 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694715 M 2026 0 1 "" dgv22e59 1 2802652 2803950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3335313,esv3450928,esv3390986 M 185 3 0 "" NA19238,NA19239,NA19240 dgv23e59 1 2821852 2823050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3336132,esv3350598 M 185 2 0 "" NA19239,NA19240 nsv159525 1 2827696 2827763 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178103 M 24 "" dgv24e59 1 2850652 2852050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3337021,esv3422535 M 185 2 0 "" NA19239,NA19240 esv1009726 1 2855998 2856144 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577776 M 3 0 1 "" HuRef esv1533261 1 2856232 2856379 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4287368 M 2 0 1 "" HuRef esv2132425 1 2866308 2866755 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4889243 M 1 0 1 "" NA18507 esv3109 1 2866419 2866691 CNV loss Wang_et_al_2008 18987735 Sequencing essv25550 M 1 0 1 "" YH esv993932 1 2866454 2866573 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566726 M 3 0 1 "" HuRef esv1703346 1 2866461 2866581 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3656039 M 2 0 1 "" HuRef nsv470686 1 2879437 2973947 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547673 M 443 0 1 ACTRT2,LINC00982 HGDP00978 esv25503 1 2882654 2884779 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv21208 M 40 0 2 "" NA12006,NA18907 nsv545096 1 2882819 2884366 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708764,nssv708763 M 17421 2 0 "" nsv545097 1 2899030 2909082 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708765 M 17421 0 1 "" esv7294 1 2901178 2901894 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29735 M 1 0 0 "" esv4855 1 2901350 2901794 CNV loss Wang_et_al_2008 18987735 Sequencing essv27296 M 1 0 1 "" YH nsv1013792 1 2911720 3298148 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477002 M 29084 1 0 ACTRT2,LINC00982,MIR4251,PRDM16 nsv829759 1 2913009 3000997 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1450961,nssv1450850 M 95 0 2 ACTRT2,LINC00982,PRDM16 nsv545098 1 2916239 2995991 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708766 M 17421 0 1 ACTRT2,LINC00982,PRDM16 esv1972331 1 2922693 2923095 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4751842 M 1 0 1 "" NA18507 esv2494725 1 2931995 2932984 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5336919 M 1 1 0 "" NA18507 esv3415692 1 2932052 2933150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692284 M 185 1 0 "" NA19240 nsv1000306 1 2937564 3070800 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465345 M 29084 1 0 LINC00982,MIR4251,PRDM16 nsv160478 1 2949127 2949127 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179056 M 24 "" nsv824697 1 2965717 2984572 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426367 M 31 1 0 LINC00982,PRDM16 AK6 nsv545099 1 2983498 3045736 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172587 M 17421 0 1 MIR4251,PRDM16 1780862275_A esv3363327 1 3043312 3043312 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8824118 M 185 1 0 PRDM16 NA12878 nsv457884 1 3052221 3094490 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv534983 M 1557 0 1 PRDM16 HGDP01234 nsv545100 1 3052221 3094490 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172588 M 17421 0 1 PRDM16 HGDP01234 esv3382615 1 3069152 3069850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692291 M 185 1 0 PRDM16 NA19239 esv22935 1 3071567 3072666 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv20220 M 40 5 0 PRDM16 NA07037,NA12004,NA12828,NA18523,NA19240 nsv458995 1 3073572 3103540 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv535843 M 1557 0 1 PRDM16 HGDP00814 esv25107 1 3073812 3074747 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv12712 M 40 1 0 PRDM16 NA12156 dgv52n54 1 3073840 3076356 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545112,nsv545101 M 17421 0 2 PRDM16 nsv545102 1 3073892 3074679 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708768 M 17421 1 0 PRDM16 dgv53n54 1 3073892 3076324 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545106,nsv545111,nsv545103 M 17421 7 0 PRDM16 dgv54n54 1 3073945 3074576 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545108,nsv545109,nsv545104,nsv545107,nsv545118,nsv545115,nsv545114 M 17421 0 16 PRDM16 dgv55n54 1 3073945 3074679 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545105,nsv545119 M 17421 0 5 PRDM16 dgv56n54 1 3073996 3074679 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545110,nsv545116 M 17421 19 15 PRDM16 nsv545113 1 3074047 3074202 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708801 M 17421 0 1 PRDM16 nsv545117 1 3074047 3076324 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708831,nssv708828,nssv708830,nssv708829,nssv708834,nssv708832,nssv708833 M 17421 5 2 PRDM16 esv1279453 1 3074394 3074630 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3971964 M 2 0 1 PRDM16 HuRef esv1001450 1 3087258 3088463 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586288 M 3 0 1 PRDM16 HuRef esv26942 1 3087323 3088663 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv18850 M 40 6 0 PRDM16 NA11931,NA12004,NA12006,NA12287,NA12776,NA15510 esv2447933 1 3087770 3087831 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5170486 M 1 0 1 PRDM16 NA18507 nsv160334 1 3087875 3087875 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178912 M 24 PRDM16 nsv545120 1 3101608 3127971 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708840 M 17421 0 1 PRDM16 nsv829870 1 3116665 3245948 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1451405,nssv1451183,nssv1451294,nssv1451072 M 95 0 4 PRDM16 esv3384045 1 3120212 3120231 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678397 M 185 1 0 PRDM16 NA19240 nsv527875 1 3134605 3198690 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704374 M 2026 0 1 PRDM16 nsv829981 1 3142452 3323676 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441618,nssv1441530,nssv1441630,nssv1441607,nssv1441563,nssv1441552,nssv1441596,nssv1441541,nssv1441674,nssv1441574,nssv1441641,nssv1441663,nssv1441519,nssv1441685,nssv1441652,nssv1441585 M 95 0 16 PRDM16 esv2639320 1 3166925 3167569 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5229663 M 1 1 0 PRDM16 NA18507 nsv545121 1 3178169 3192981 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708841 M 17421 0 1 PRDM16 dgv6n67 1 3199718 3201188 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv824919,nsv824808 M 31 0 2 PRDM16 AK14,NA18552 nsv7645 1 3203967 3239047 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4419 M 9 1 0 PRDM16 NA12878 nsv161030 1 3204425 3204425 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179608 M 24 PRDM16 esv2582992 1 3205073 3207155 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5311128 M 1 0 1 PRDM16 NA18507 esv2000244 1 3205391 3206316 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4511826 M 1 0 1 PRDM16 NA18507 nsv511673 1 3205467 3207548 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626311 M 1 0 1 PRDM16 1 esv1917341 1 3205479 3206076 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4748244 M 1 0 1 PRDM16 NA18507 esv22281 1 3205520 3206970 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11880 M 40 0 11 PRDM16 NA11894,NA12004,NA12006,NA12044,NA12489,NA12878,NA15510,NA18502,NA18511,NA18861,NA19240 nsv545122 1 3205977 3206879 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708842 M 17421 0 1 PRDM16 nsv830092 1 3207806 3373233 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441840,nssv1441807,nssv1441829,nssv1441774,nssv1441763,nssv1441752,nssv1441741,nssv1441796,nssv1441718,nssv1441818,nssv1441696,nssv1441707,nssv1441729,nssv1441785 M 95 1 13 ARHGEF16,PRDM16 nsv522146 1 3217048 3218775 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694919 M 2026 0 1 PRDM16 esv998521 1 3232455 3232513 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584219 M 3 0 1 PRDM16 HuRef esv1330141 1 3232469 3232528 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3645168 M 2 0 1 PRDM16 HuRef esv3340545 1 3242252 3244650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692298 M 185 1 0 PRDM16 NA19240 esv3347294 1 3242452 3243750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692299 M 185 1 0 PRDM16 NA19239 nsv526836 1 3248973 3249043 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703193 M 2026 0 1 PRDM16 nsv512711 1 3257926 3257966 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625335 M 1 1 0 PRDM16 1 nsv470687 1 3262923 3669634 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547682,nssv547680,nssv547679,nssv547675,nssv547685,nssv547683,nssv547674,nssv547681,nssv547677,nssv547684,nssv547676,nssv547686 M 443 0 8 ARHGEF16,CCDC27,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 HGDP00288,HGDP00298,HGDP00302,HGDP00546,HGDP00550,HGDP00657,HGDP00825,HGDP00978 esv2758915 1 3278798 3538713 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757719 M 270 1 0 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 NA18943 nsv459950 1 3279589 3290990 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536592 M 1557 0 1 PRDM16 HGDP00788 nsv545123 1 3279589 3290990 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172589 M 17421 0 1 PRDM16 HGDP00788 nsv522900 1 3283525 3284832 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698558 M 2026 0 1 PRDM16 nsv524467 1 3297894 3298358 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700403 M 2026 0 1 PRDM16 dgv1n21 1 3297894 3304456 CNV gain Shaikh_et_al_2009 19592680 SNP array nsv527139,nsv521921 M 2026 2 0 PRDM16 esv3414281 1 3314652 3316750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692300 M 185 1 0 PRDM16 NA19240 esv3347804 1 3315952 3316650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692301 M 185 1 0 PRDM16 NA19239 esv1000452 1 3324255 3329826 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565499 M 3 0 1 PRDM16 HuRef esv4712 1 3339813 3340125 CNV loss Wang_et_al_2008 18987735 Sequencing essv27153 M 1 0 1 PRDM16 YH nsv830203 1 3352798 3514176 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441852,nssv1441863 M 95 0 2 ARHGEF16,MEGF6,MIR551A nsv160351 1 3356879 3356879 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178929 M 24 "" nsv545124 1 3358003 3395156 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708843 M 17421 0 1 ARHGEF16,MEGF6 nsv475972 1 3370042 3370042 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013178 M 9 1 0 ARHGEF16 NA12878 nsv476024 1 3372915 3372915 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013501 M 9 1 0 ARHGEF16 NA12878 esv1571906 1 3381505 3381565 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4030830 M 2 0 1 ARHGEF16 HuRef nsv299 1 3383352 3419129 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4519,nssv4678,nssv9111 M 9 3 0 ARHGEF16,MEGF6 NA12156,NA12878,NA19129 esv3355688 1 3383523 3383768 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652084 M 185 1 0 ARHGEF16 NA19240 esv3449417 1 3383671 3383732 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808964 M 185 1 0 ARHGEF16 NA12878 nsv1012423 1 3384110 4707369 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696759 M 29084 1 0 AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,LINC01134,LOC284661,LOC728716,LRRC47,MEGF6,MIR551A,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 esv3368997 1 3390923 3390923 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8825207 M 185 1 0 "" NA19240 dgv7n67 1 3390933 3395522 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv825142,nsv825364,nsv825031 M 31 3 0 MEGF6 NA18542,NA18951,NA18973 nsv825253 1 3390933 3395784 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434860 M 31 0 1 MEGF6 NA18942 nsv545125 1 3396867 3447155 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708844 M 17421 0 1 MEGF6 esv3417230 1 3408157 3408735 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808966 M 185 1 0 MEGF6 NA12878 esv3352832 1 3408464 3408552 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652085 M 185 1 0 MEGF6 NA19240 esv1595391 1 3408473 3408473 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3895480 M 2 1 0 MEGF6 HuRef nsv1009360 1 3409995 3530072 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467524 M 29084 1 0 MEGF6,MIR551A nsv818333 1 3431124 3446731 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417807 M 112 0 1 MEGF6 NA18853 nsv10494 1 3435994 3441816 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv21444,nssv21442 M 31 0 2 MEGF6 NA18942,NA18975 nsv519082 1 3445617 3446452 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696553 M 2026 1 0 MEGF6 nsv545126 1 3445617 3489106 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708845 M 17421 0 1 MEGF6,MIR551A nsv474159 1 3463249 3463249 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014646 M 9 1 0 MEGF6 NA18507 nsv1004180 1 3464491 3530072 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468122 M 29084 1 0 MEGF6,MIR551A nsv545127 1 3470009 3489106 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708846 M 17421 0 1 MEGF6 nsv818444 1 3476986 3500493 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417551 M 112 0 1 MEGF6 NA18971 esv1003247 1 3485168 3485168 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570647 M 3 1 0 MEGF6 HuRef esv1491138 1 3485189 3485189 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3621012 M 2 1 0 MEGF6 HuRef esv2470115 1 3489252 3492632 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5366115 M 1 0 1 MEGF6 NA18507 esv28730 1 3489592 3490491 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13258 M 40 0 3 MEGF6 NA12489,NA18861,NA18916 esv1062679 1 3489887 3489959 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4165604 M 2 0 1 MEGF6 HuRef esv3413189 1 3491652 3492950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692303 M 185 1 0 MEGF6 NA19240 esv1072885 1 3494306 3494306 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4183764 M 2 1 0 MEGF6 HuRef nsv160325 1 3494307 3494307 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178903 M 24 MEGF6 nsv160986 1 3498049 3498114 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179564 M 24 MEGF6 nsv160621 1 3498071 3498136 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179199 M 24 MEGF6 esv1645766 1 3498280 3498346 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4161797 M 2 0 1 MEGF6 HuRef dgv26e59 1 3510952 3512250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3363109,esv3391335 M 185 2 0 MEGF6 NA19239,NA19240 nsv1001715 1 3534043 3676178 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481065 M 29084 0 1 CCDC27,TP73,TP73-AS1,TPRG1L,WRAP73 nsv545128 1 3536795 3606461 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708847 M 17421 0 1 TP73,WRAP73 nsv410 1 3541511 3573504 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10069 M 9 1 0 TP73,WRAP73 NA18956 esv2247294 1 3546704 3547177 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4665883 M 1 0 1 WRAP73 NA18507 esv2489412 1 3549596 3551258 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5381740 M 1 0 1 WRAP73 NA18507 esv29463 1 3550105 3550815 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11696 M 40 0 1 WRAP73 NA15510 esv1007908 1 3550307 3550816 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571323 M 3 0 1 WRAP73 HuRef nsv830314 1 3567200 3710699 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441874,nssv1441907,nssv1441985,nssv1441974,nssv1441929,nssv1441918,nssv1441996,nssv1441940,nssv1441951,nssv1441896,nssv1441963,nssv1441885 M 95 1 11 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 esv2758916 1 3574901 3645396 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756833 M 270 1 0 TP73,TP73-AS1 NA10855 nsv460061 1 3586877 3661651 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536686 M 1557 0 1 CCDC27,TP73,TP73-AS1 HGDP00787 nsv545129 1 3586877 3661651 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172590 M 17421 0 1 CCDC27,TP73,TP73-AS1 HGDP00787 dgv27e59 1 3600052 3601450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3382922,esv3432428 M 185 1 0 TP73 NA19240 esv1394802 1 3600206 3600206 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4024850 M 2 1 0 TP73 HuRef esv3378361 1 3600452 3601450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692311 M 185 1 0 TP73 NA19238 esv1032022 1 3600542 3600542 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3640841 M 2 1 0 TP73 HuRef esv1115862 1 3600687 3600687 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4358577 M 2 1 0 TP73 HuRef esv1634361 1 3600759 3601179 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3887450 M 2 0 1 TP73 HuRef dgv13n100 1 3636872 3697740 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002837,nsv1004361 M 29084 2 0 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 esv994567 1 3641983 3645230 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565096 M 3 0 1 TP73,TP73-AS1 HuRef nsv830425 1 3647313 3748249 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442007 M 95 1 0 CCDC27,CEP104,LRRC47,SMIM1,TP73-AS1 nsv478669 1 3648191 3648191 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012836 M 9 1 0 TP73-AS1 NA18507 esv1678500 1 3704149 3704149 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4118454 M 2 1 0 "" HuRef esv1763700 1 3706801 3706951 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4015442 M 2 0 1 "" HuRef nsv509590 1 3732881 3808916 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623769 M 4 1 0 C1orf174,CEP104,DFFB,LINC01134 NA18994 nsv545130 1 3732992 4243808 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172591 M 17421 1 0 C1orf174,CEP104,DFFB,LINC01134,LOC728716 1780862339_A esv1948239 1 3738731 3739075 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4952306 M 1 0 1 CEP104 NA18507 esv1074506 1 3738857 3738857 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3942170 M 2 1 0 CEP104 HuRef nsv159844 1 3749765 3751122 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178422 M 24 CEP104 nsv479517 1 3772895 3772895 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012022 M 9 0 0 DFFB esv1467252 1 3775096 3775096 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4229403 M 2 1 0 DFFB HuRef nsv480404 1 3775355 3775355 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011405 M 9 0 0 DFFB nsv473755 1 3776976 3776976 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017508 M 9 1 0 DFFB NA12156 nsv479682 1 3777067 3777067 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012592 M 9 0 0 DFFB esv1008825 1 3780687 3780843 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3580646 M 3 0 1 DFFB HuRef esv1273516 1 3780687 3780844 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4131794 M 2 0 1 DFFB HuRef esv992605 1 3780687 3780921 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3585949 M 3 0 1 DFFB HuRef nsv480762 1 3781065 3781065 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012639 M 9 0 0 DFFB nsv476313 1 3781075 3781075 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014524 M 9 1 0 DFFB NA12878 nsv481045 1 3782862 3782862 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011297 M 9 0 0 DFFB nsv474298 1 3783545 3783545 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020439 M 9 1 0 DFFB NA18507 nsv480565 1 3784272 3784272 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012547 M 9 0 0 DFFB nsv480530 1 3784509 3784509 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014312 M 9 0 0 DFFB nsv474895 1 3784853 3784853 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014698 M 9 1 0 DFFB NA18956 nsv480658 1 3786916 3786916 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012832 M 9 0 0 DFFB nsv472199 1 3786962 3786962 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016248 M 9 1 0 DFFB NA18555 nsv480877 1 3788479 3788479 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015174 M 9 0 0 DFFB nsv480517 1 3789579 3789579 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011682 M 9 0 0 DFFB nsv480775 1 3789828 3789828 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015333 M 9 0 0 DFFB nsv480683 1 3793282 3793282 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014297 M 9 0 0 "" nsv474247 1 3795363 3795363 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015360 M 9 1 0 "" NA18507 nsv474199 1 3796377 3796377 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017129 M 9 1 0 C1orf174 NA18507 esv26417 1 3798297 3799062 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv16927 M 40 2 0 C1orf174 NA19099,NA19225 esv1352346 1 3798844 3798936 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4067715 M 2 0 1 C1orf174 HuRef nsv460172 1 3913951 3980640 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536774 M 1557 0 1 "" HGDP00586 nsv545131 1 3913951 3980640 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172592 M 17421 0 1 "" HGDP00586 nsv479376 1 3925149 3925149 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017501 M 9 0 0 "" nsv481575 1 3928206 3928206 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018750 M 9 0 0 "" nsv521 1 3943724 3947893 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1327 M 9 1 0 "" NA19240 esv26736 1 3944616 3945124 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11152 M 40 0 1 "" NA18916 esv3332307 1 3959674 3959857 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652088 M 185 1 0 "" NA19240 esv1003004 1 3959687 3959804 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578431 M 3 0 1 "" HuRef esv1647727 1 3959695 3959813 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3880229 M 2 0 1 "" HuRef nsv159163 1 3959696 3959813 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177741 M 24 "" nsv545132 1 4017098 4024517 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708848 M 17421 0 1 "" nsv460283 1 4017414 4199587 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536884 M 1557 0 1 "" HGDP00817 nsv545133 1 4017414 4199587 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172593 M 17421 0 1 "" HGDP00817 nsv520675 1 4020171 4022959 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697551 M 2026 0 1 "" esv21720 1 4023703 4027828 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12064 M 40 0 3 "" NA12749,NA12878,NA19108 nsv545134 1 4023709 4027382 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708849 M 17421 0 1 "" dgv57n54 1 4024015 4028383 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545136,nsv545135 M 17421 2 0 "" esv5203 1 4024404 4024858 CNV loss Wang_et_al_2008 18987735 Sequencing essv27644 M 1 0 1 "" YH nsv511674 1 4025102 4025799 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626312 M 1 0 1 "" 1 esv1280652 1 4025195 4025292 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3810874 M 2 0 1 "" HuRef dgv28e59 1 4025552 4027650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3387532,esv3352978 M 185 2 0 "" NA19239,NA19240 esv5764 1 4025643 4027279 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28205 M 1 0 0 "" esv23365 1 4036853 4038828 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16191,esv13534 M 40 0 13 "" NA12004,NA12006,NA12239,NA12287,NA12489,NA12828,NA18505,NA18858,NA18907,NA18909,NA18916,NA19099,NA19147 esv1000769 1 4037161 4037566 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578155 M 3 0 1 "" HuRef esv1100125 1 4037241 4037647 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3668289 M 2 0 1 "" HuRef nsv821406 1 4037678 4038778 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420735 M 1 1 0 "" NA10851 esv1767486 1 4038421 4038421 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4227901 M 2 1 0 "" HuRef nsv509701 1 4042750 4119760 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619763 M 4 1 0 "" NA10860 esv2637444 1 4054369 4055994 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5194644 M 1 0 1 "" NA18507 esv2259067 1 4054830 4055525 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4563770 M 1 0 1 "" NA18507 esv7346 1 4054855 4055568 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29787 M 1 0 0 "" esv3887 1 4054909 4055444 CNV loss Wang_et_al_2008 18987735 Sequencing essv26328 M 1 0 1 "" YH nsv1011866 1 4090113 4142433 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471886 M 29084 1 0 "" esv1112137 1 4096657 4096657 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4248978 M 2 1 0 "" HuRef esv7714 1 4104300 4104480 CNV gain Ahn_et_al_2009 19470904 Sequencing essv30155 M 1 0 0 "" esv2619231 1 4104535 4104584 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5231288 M 1 0 1 "" NA18507 nsv527177 1 4116722 4126954 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703573 M 2026 0 1 "" nsv830536 1 4139870 4285041 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442018 M 95 1 0 "" nsv830647 1 4177167 4347440 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442029 M 95 1 0 "" nsv1003469 1 4180030 4202021 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466239 M 29084 0 1 "" esv25427 1 4184495 4185865 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14207 M 40 0 1 "" NA19240 esv3390866 1 4188301 4188320 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678401 M 185 1 0 "" NA19240 esv3309075 1 4188309 4188310 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843075,essv7842258,essv7842708 M 185 3 0 "" NA19238,NA19239,NA19240 esv3409348 1 4188310 4188322 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898469,essv8898482,essv8898478,essv8898474,essv8898480,essv8898472,essv8898477,essv8898476,essv8898471,essv8898479,essv8898473,essv8898475 M 185 12 0 "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190 esv3307842 1 4188314 4188315 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7760230,essv7747544,essv7741132,essv7760907,essv7762140,essv7761652,essv7752966,essv7755504,essv7746447,essv7750355,essv7744805,essv7758826,essv7756460,essv7746182,essv7756302 M 185 15 0 "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190,NA19238,NA19239,NA19240 esv3405644 1 4188326 4188374 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674019,essv8674018,essv8674017 M 185 3 0 "" NA19238,NA19239,NA19240 nsv159648 1 4262904 4262904 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178226 M 24 "" nsv545137 1 4281113 4293302 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708852 M 17421 0 1 "" nsv545138 1 4290149 4292889 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708853 M 17421 0 1 "" esv28339 1 4291441 4304135 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv19856,esv17261,esv14362,esv11599,esv17217 M 40 9 24 "" NA06985,NA11894,NA11931,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv545141 1 4292371 4292942 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708868,nssv708871,nssv708867,nssv708869,nssv708866,nssv708873,nssv708872,nssv708874,nssv708865,nssv708861,nssv708870,nssv708864,nssv708862,nssv708863 M 17421 11 3 "" dgv58n54 1 4292371 4292964 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545149,nsv545140,nsv545139,nsv545142 M 17421 0 9 "" dgv59n54 1 4292371 4293302 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545143,nsv545144 M 17421 28 10 "" nsv545145 1 4292371 4295095 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708916,nssv708915,nssv708914 M 17421 0 3 "" nsv511131 1 4292371 4295672 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626587 M 1 0 1 "" 1 dgv60n54 1 4292371 4303638 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545146,nsv545147,nsv545148 M 17421 3 0 "" dgv61n54 1 4292473 4293302 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545151,nsv545150,nsv545152 M 17421 0 4 "" nsv545153 1 4292578 4293302 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708925 M 17421 1 0 "" dgv62n54 1 4292734 4293302 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545155,nsv545154 M 17421 0 8 "" esv2505018 1 4296153 4296861 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5228093 M 1 1 0 "" NA18507 esv1619694 1 4296448 4296448 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3918928 M 2 1 0 "" HuRef nsv545156 1 4303433 4303530 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708934,nssv708935 M 17421 0 2 "" esv275066 1 4320920 4323975 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585519 M 1250 0 1 "" dgv29e59 1 4328752 4329950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3376842,esv3368163 M 185 2 0 "" NA19239,NA19240 nsv830759 1 4347441 4569221 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442051,nssv1442040 M 95 0 2 LOC284661 nsv1008790 1 4353020 4364302 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482262 M 29084 1 0 "" esv2213507 1 4380017 4380434 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4764956 M 1 0 1 LOC284661 NA18507 esv1543124 1 4380214 4380276 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4354508 M 2 0 1 LOC284661 HuRef nsv545157 1 4423217 4452662 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708936 M 17421 1 0 "" esv3310012 1 4431913 4431914 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7837624,essv7837087 M 185 2 0 "" NA19239,NA19240 esv3436839 1 4431915 4431941 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674025 M 185 1 0 "" NA19239 nsv472740 1 4457810 4457810 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018924 M 9 1 0 "" NA18555 nsv460394 1 4473849 4491976 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536980 M 1557 0 1 "" HGDP01098 esv1006796 1 4495890 4501949 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586737 M 3 0 1 "" HuRef esv21437 1 4497777 4503228 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13444 M 40 0 1 "" NA18861 esv2469165 1 4503150 4504226 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5375102 M 1 1 0 "" NA18507 esv995887 1 4503622 4503622 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3569284 M 3 1 0 "" HuRef esv1262838 1 4503642 4503642 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3924372 M 2 1 0 "" HuRef esv2398993 1 4576173 4576682 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4895725 M 1 0 1 "" NA18507 nsv545158 1 4604815 4626946 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708937 M 17421 0 1 AJAP1 esv3330361 1 4606752 4609050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692349 M 185 1 0 "" NA19240 nsv825475 1 4612979 4617295 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433404 M 31 1 0 AJAP1 NA18526 esv1009421 1 4634634 4637986 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565733 M 3 0 1 AJAP1 HuRef nsv460505 1 4637391 4653917 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537066 M 1557 0 1 AJAP1 1780862093_A nsv545159 1 4637391 4653917 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172594 M 17421 0 1 AJAP1 1780862093_A nsv520031 1 4647597 4650890 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701964,nssv683157,nssv660165 M 2026 0 3 AJAP1 nsv521535 1 4647597 4672577 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694458 M 2026 0 1 AJAP1 nsv460617 1 4650890 4686979 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537158 M 1557 0 1 AJAP1 NINDS_66 nsv545160 1 4650890 4686979 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173647 M 17421 0 1 AJAP1 NINDS_66 nsv830870 1 4695246 4881159 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442062 M 95 0 1 AJAP1 esv2651800 1 4700006 4701050 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5191133 M 1 1 0 AJAP1 NA18507 nsv830981 1 4722125 4898111 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442074 M 95 1 0 AJAP1 esv3409614 1 4727518 4727564 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740928 M 185 1 0 AJAP1 NA12878 nsv521327 1 4772431 4774365 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697933 M 2026 0 1 "" nsv632 1 4809273 4813432 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2960 M 9 1 0 "" NA18555 nsv473410 1 4837790 4837790 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018919 M 9 1 0 "" NA19129 dgv14n100 1 4897363 4912215 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006006,nsv998217,nsv1006916 M 29084 5 0 "" esv3310485 1 4899047 4900056 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843542 M 185 1 0 "" NA19240 esv3328269 1 4899419 4899622 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652090 M 185 1 0 "" NA19240 esv3450010 1 4899517 4899633 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808971 M 185 1 0 "" NA12878 esv3382602 1 4906052 4906850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692354 M 185 1 0 "" NA19239 nsv1014919 1 4928064 4955711 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478565 M 29084 0 1 "" esv2764243 1 4928076 4960098 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004914,essv7004913,essv7004916,essv7004915 M 1109 0 4 "" RW_0164,RW_0321,RW_0351,RW_0579 nsv521101 1 4931239 4954210 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv682279,nssv687649 M 2026 0 2 "" nsv474096 1 4938157 4938157 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011788 M 9 1 0 "" NA12156 nsv478576 1 4940764 4940764 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018520 M 9 1 0 "" NA18507 nsv476165 1 4951473 4951473 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012866 M 9 1 0 "" NA12878 esv2483299 1 4953212 4954328 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5225073 M 1 0 1 "" NA18507 nsv525603 1 4968070 4968815 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701747 M 2026 0 1 "" esv3386646 1 4989900 4989955 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898483 M 185 1 0 "" NA19093 esv3306851 1 4989912 4989913 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7749686 M 185 1 0 "" NA19093 dgv63n54 1 5003897 5070572 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545165,nsv545161,nsv545166 M 17421 4 0 "" nsv1001381 1 5011917 5073865 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472304,nssv3480432,nssv3696762,nssv3479297,nssv3468116,nssv3465441 M 29084 0 6 "" nsv523740 1 5013771 5070572 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv699556 M 2026 1 0 "" dgv64n54 1 5013771 5073664 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545163,nsv545162,nsv545167,nsv545164 M 17421 0 7 "" HGDP00529 nsv460839 1 5013771 5073664 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537339 M 1557 0 1 "" HGDP00529 esv32797 1 5027130 5068705 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv101012 M 51 0 1 "" 21693 esv1109223 1 5035641 5035641 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4201133 M 2 1 0 "" HuRef nsv520723 1 5051105 5064284 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv697576 M 2026 1 0 "" esv2532762 1 5071907 5072624 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5197882 M 1 1 0 "" NA18507 esv1289856 1 5072350 5072350 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3630167 M 2 1 0 "" HuRef esv2464561 1 5080714 5080790 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5250667 M 1 0 1 "" NA18507 esv27138 1 5096531 5097274 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13523 M 40 0 1 "" NA19240 esv2465114 1 5120011 5120756 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5290540 M 1 1 0 "" NA18507 esv2918 1 5120121 5120467 CNV loss Wang_et_al_2008 18987735 Sequencing essv25359 M 1 0 1 "" YH nsv999560 1 5178466 5226331 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3462759 M 29084 1 0 "" nsv521242 1 5183802 5186968 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697864 M 2026 0 1 "" nsv545168 1 5183883 5205224 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708948 M 17421 0 1 "" esv2758917 1 5189627 5459265 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757720 M 270 1 0 "" NA19003 esv1963263 1 5205884 5206310 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4703012 M 1 0 1 "" NA18507 nsv460950 1 5230617 5248130 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537425 M 1557 0 1 "" HGDP00998 nsv545169 1 5230617 5248130 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173649 M 17421 0 1 "" HGDP00998 esv34107 1 5267544 5414367 CNV loss Gusev_et_al_2009 18971310 SNP array essv6990691 M 270 0 0 "" nsv1003726 1 5283168 5324969 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466555 M 29084 1 0 "" nsv481312 1 5283810 5283810 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012002 M 9 0 0 "" nsv473792 1 5283811 5283811 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012563 M 9 1 0 "" NA12156 nsv480602 1 5285077 5285077 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017310 M 9 0 0 "" nsv474984 1 5285893 5285893 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018294 M 9 1 0 "" NA18956 nsv477558 1 5287178 5287178 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012506 M 9 1 0 "" NA18517 nsv481266 1 5287713 5287713 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012335 M 9 0 0 "" nsv479925 1 5290728 5290728 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014061 M 9 0 0 "" nsv473968 1 5290904 5290904 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015924 M 9 1 0 "" NA12156 nsv10605 1 5293450 5294873 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24593,nssv28532,nssv29260,nssv21430 M 31 4 0 "" NA07029,NA07048,NA12802,NA18504 nsv479465 1 5294334 5294334 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020534 M 9 0 0 "" nsv479520 1 5296700 5296700 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013929 M 9 0 0 "" nsv474387 1 5296774 5296774 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015116 M 9 1 0 "" NA18956 nsv480617 1 5297300 5297300 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011387 M 9 0 0 "" nsv474375 1 5297574 5297574 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016753 M 9 1 0 "" NA18956 nsv479836 1 5298908 5298908 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019925 M 9 0 0 "" nsv472280 1 5300818 5300818 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019293 M 9 1 0 "" NA18555 nsv481139 1 5302182 5302182 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013782 M 9 0 0 "" nsv479964 1 5303207 5303207 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015499 M 9 0 0 "" nsv480009 1 5303403 5303403 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014433 M 9 0 0 "" esv2259894 1 5396616 5397044 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4831068 M 1 0 1 "" NA18507 nsv160607 1 5396755 5396828 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179185 M 24 "" esv1028089 1 5396817 5396892 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4224996 M 2 0 1 "" HuRef nsv10716 1 5397617 5399397 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv26903 M 31 1 0 "" NA19221 nsv479240 1 5407928 5407928 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014489 M 9 0 0 "" nsv472893 1 5408060 5408060 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019845 M 9 1 0 "" NA19129 nsv479719 1 5408210 5408210 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018029 M 9 0 0 "" nsv481014 1 5408766 5408766 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012558 M 9 0 0 "" nsv481354 1 5409120 5409120 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019584 M 9 0 0 "" nsv473687 1 5411496 5411496 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010833 M 9 1 0 "" NA19129 nsv477009 1 5412169 5412169 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019418 M 9 1 0 "" NA12878 nsv545170 1 5412454 5463792 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708949 M 17421 0 1 "" nsv481592 1 5413095 5413095 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012018 M 9 0 0 "" nsv479588 1 5414258 5414258 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014470 M 9 0 0 "" nsv480794 1 5415924 5415924 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019522 M 9 0 0 "" nsv831092 1 5415955 5566331 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442085 M 95 1 0 MIR4417 nsv481180 1 5416502 5416502 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018352 M 9 0 0 "" nsv473316 1 5419344 5419344 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014447 M 9 1 0 "" NA19129 nsv479984 1 5420828 5420828 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012502 M 9 0 0 "" nsv480922 1 5421408 5421408 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020124 M 9 0 0 "" nsv475183 1 5423218 5423218 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018681 M 9 1 0 "" NA19240 nsv473909 1 5423527 5423527 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018625 M 9 1 0 "" NA12156 nsv475512 1 5426431 5426431 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011760 M 9 1 0 "" NA19240 esv2607553 1 5482096 5482197 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5236789 M 1 0 1 "" NA18507 nsv478357 1 5527865 5527865 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011835 M 9 1 0 "" NA18507 nsv527712 1 5546270 5548153 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704192 M 2026 0 1 MIR4417 dgv2n21 1 5547116 5548153 CNV loss Shaikh_et_al_2009 19592680 SNP array nsv519513,nsv526005 M 2026 0 4 "" esv1008325 1 5575936 5575936 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577403 M 3 1 0 "" HuRef esv1402936 1 5575937 5575937 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3729262 M 2 1 0 "" HuRef esv2165265 1 5585810 5586177 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4655011 M 1 0 1 "" NA18507 esv2622825 1 5586421 5586481 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5341576 M 1 0 1 "" NA18507 nsv945752 1 5636293 5640712 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750273,nssv1750243,nssv2572200,nssv1750231,nssv2572206,nssv1750232,nssv1750285,nssv1750222,nssv1750248,nssv1750229,nssv2572210,nssv1750300,nssv1750309,nssv1750304,nssv1750255,nssv1750250,nssv1750289,nssv1750224,nssv1750281,nssv1750301,nssv1750313,nssv1750228,nssv2572211,nssv1750245,nssv1750288,nssv1750226,nssv1750279,nssv1750227,nssv1750267,nssv1750225,nssv2572202,nssv1750298,nssv2572212,nssv1750302,nssv1750257,nssv1750252,nssv1750265,nssv1750242,nssv1750271,nssv1750307,nssv1750270,nssv1750237,nssv1750287,nssv1750306,nssv1750253,nssv1750230,nssv2572209,nssv1750249,nssv2572207,nssv1750241,nssv1750308,nssv1750303,nssv1750293,nssv1750233,nssv1750296,nssv1750234,nssv1750315,nssv1750235,nssv2572201,nssv1750239,nssv2572198,nssv1750238,nssv1750247,nssv1750305,nssv1750256,nssv1750240,nssv1750266,nssv1750299,nssv1750312,nssv1750223,nssv1750291,nssv1750236,nssv2572213,nssv1750282,nssv2572199,nssv1750297,nssv1750316,nssv1750246,nssv1750263,nssv1750268,nssv2572204,nssv2572205,nssv1750286,nssv1750283,nssv1750311,nssv1750261,nssv1750251,nssv1750278,nssv1750221,nssv1750244,nssv1750254,nssv1750269,nssv2572197,nssv1750276,nssv1750292,nssv1750274,nssv1750294,nssv1750280,nssv2572208,nssv1750260,nssv1750310,nssv1750277,nssv1750284,nssv1750275,nssv1750314,nssv1750258,nssv1750317,nssv1750272,nssv1750290,nssv1750295,nssv1750264,nssv1750259,nssv1750262,nssv2572203 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3368079 1 5639749 5639749 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740929 M 185 1 0 "" NA12878 dgv30e59 1 5647252 5659750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3345322,esv3391008,esv3346737,esv3335908,esv3435601,esv3335249 M 185 6 0 "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv945753 1 5648402 5659199 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750397,nssv2572216,nssv1750403,nssv2572221,nssv1750402,nssv1750392,nssv1750347,nssv1750381,nssv1750340,nssv2572217,nssv1750333,nssv1750371,nssv1750401,nssv1751338,nssv1750327,nssv1750387,nssv1750328,nssv1750369,nssv1750346,nssv1750410,nssv1750349,nssv1750406,nssv1750398,nssv1750345,nssv1750339,nssv1750408,nssv1750329,nssv1750357,nssv1750399,nssv1750362,nssv1750342,nssv1750378,nssv1750325,nssv2572230,nssv1750395,nssv1750356,nssv1750323,nssv2572231,nssv1750322,nssv1750385,nssv1750396,nssv1750386,nssv1750334,nssv1750376,nssv1750404,nssv1750354,nssv1750338,nssv1750359,nssv1750326,nssv1750352,nssv1750320,nssv1750380,nssv1750331,nssv1750411,nssv1750336,nssv2572219,nssv1750335,nssv1750405,nssv1750321,nssv1750350,nssv1750319,nssv1750364,nssv1750337,nssv1751336,nssv1750330,nssv2572222,nssv1750332,nssv1750372,nssv1750324,nssv1750368,nssv1750400,nssv2572226,nssv1750344,nssv2572224,nssv1750393,nssv2572215,nssv1750367,nssv1750390,nssv2572229,nssv1751337,nssv1750353,nssv1750382,nssv1750409,nssv2572223,nssv2572214,nssv1750384,nssv1750394,nssv1750348,nssv2572227,nssv1750363,nssv1750391,nssv1750374,nssv1750355,nssv1750343,nssv1750366,nssv1750358,nssv1750360,nssv1750370,nssv1750377,nssv2572218,nssv1750389,nssv1750383,nssv2572220,nssv1750407,nssv1750351,nssv2572225,nssv1750361,nssv1750379,nssv1750388,nssv1750318,nssv1750375,nssv1750365,nssv1750373,nssv1750341 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2474640 1 5654415 5657276 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5304912 M 1 1 0 "" NA18507 nsv545171 1 5675937 5809727 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708950 M 17421 1 0 "" nsv523099 1 5681359 5687940 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698792 M 2026 1 0 "" nsv521706 1 5713085 5713242 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698329 M 2026 1 0 "" nsv1005415 1 5724660 5743244 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473594 M 29084 0 1 "" esv2165525 1 5726629 5727090 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4933008 M 1 0 1 "" NA18507 nsv470688 1 5733711 5836208 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547687,nssv547688 M 443 0 2 "" HGDP00546,HGDP00550 esv3408840 1 5755345 5755364 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863671,essv7863672 M 185 2 0 "" NA12005,NA18871 nsv508723 1 5759862 5954595 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619765,nssv619764,nssv623770 M 4 2 0 MIR4689,NPHP4 NA10860,NA18994 esv2444036 1 5785240 5785988 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5245268 M 1 1 0 "" NA18507 dgv31e59 1 5790752 5792750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3330767,esv3376026,esv3440591 M 185 3 0 "" NA19238,NA19239,NA19240 esv2487333 1 5791947 5792087 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5391968 M 1 0 1 "" NA18507 esv28776 1 5799180 5800681 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16704,esv10860,esv18182 M 40 0 7 "" NA07045,NA12006,NA12489,NA12878,NA18508,NA18523,NA19147 nsv545172 1 5799207 5799873 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708951 M 17421 0 1 "" nsv831203 1 5812677 5950549 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442096,nssv1442107,nssv1442118 M 95 0 3 MIR4689,NPHP4 esv2494780 1 5814791 5815226 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5176671 M 1 1 0 "" NA18507 nsv512712 1 5814902 5815025 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625336 M 1 1 0 "" 1 esv1660216 1 5814954 5814954 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4159802 M 2 1 0 "" HuRef nsv545173 1 5816038 6007940 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708952 M 17421 1 0 KCNAB2,MIR4689,NPHP4 esv2764259 1 5821316 5826545 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004917,essv7004918 M 1109 0 2 "" RW_0235,RW_0272 nsv545174 1 5827305 5954531 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708953 M 17421 0 1 MIR4689,NPHP4 nsv518390 1 5828924 5836208 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv695820 M 2026 1 0 "" nsv945754 1 5831636 5833512 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751363,nssv1751427,nssv1751344,nssv1751372,nssv1751360,nssv1751404,nssv1751423,nssv1751395,nssv1751368,nssv1751408,nssv1751367,nssv1751410,nssv1751424,nssv1751415,nssv1751370,nssv1751401,nssv1751352,nssv1751375,nssv1751348,nssv1751390,nssv1751361,nssv1751373,nssv1751345,nssv1751385,nssv1751419,nssv1751364,nssv1751417,nssv1751362,nssv1751422,nssv1751365,nssv1751416,nssv1751398,nssv1751342,nssv1751387,nssv1751354,nssv1751377,nssv1751420,nssv1751384,nssv1751421,nssv1751400,nssv1751355,nssv1751339,nssv1751353,nssv1751380,nssv1751346,nssv1751413,nssv1751349,nssv1751388,nssv1751343,nssv1751405,nssv1751340,nssv1751381,nssv1751341,nssv1751383,nssv1751347,nssv1751409,nssv1751425,nssv1751392,nssv1751357,nssv1751432,nssv1751356,nssv1751431,nssv1751350,nssv1751397,nssv1751418,nssv1751393,nssv1751359,nssv1751366,nssv1751358,nssv1751402,nssv1751351,nssv1751386,nssv1751406,nssv1751435,nssv1751382,nssv1751411,nssv1751412,nssv1751396,nssv1751369,nssv1751433,nssv1751426,nssv1751428,nssv1751378,nssv1751407,nssv1751379,nssv1751371,nssv1751399,nssv1751414,nssv1751374,nssv1751376,nssv1751391,nssv1751430,nssv1751429,nssv1751389,nssv1751394,nssv1751434,nssv1751403 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv825586 1 5856348 5857220 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423942 M 31 0 1 NPHP4 NA18582 esv3303661 1 5856873 5856874 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7787396,essv7835328,essv7797541,essv7806879,essv7803116,essv7816951,essv7776436,essv7804333,essv7811898,essv7833753,essv7819420,essv7821646,essv7804836,essv7779858,essv7795754,essv7771311,essv7802590,essv7812609,essv7835194,essv7791894,essv7777643,essv7770850,essv7800312,essv7789668,essv7772554,essv7800612,essv7783838,essv7790170,essv7790786,essv7812099,essv7824790,essv7816202,essv7815947,essv7816412,essv7805383,essv7779695,essv7791442,essv7823099,essv7778061,essv7786270 M 185 40 0 NPHP4 NA07000,NA07037,NA10847,NA11881,NA11918,NA11919,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12761,NA12812,NA12814,NA12815,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18853,NA18858,NA18907,NA18916,NA19108,NA19114,NA19116,NA19137,NA19190 esv3310166 1 5856877 5856878 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7841130,essv7840521,essv7839898 M 185 3 0 NPHP4 NA12878,NA12891,NA12892 esv3339145 1 5856880 5856890 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898499,essv8898500,essv8898487,essv8898512,essv8898519,essv8898513,essv8898505,essv8898508,essv8898491,essv8898490,essv8898489,essv8898498,essv8898494,essv8898515,essv8898495,essv8898518,essv8898511,essv8898510,essv8898516,essv8898485,essv8898506,essv8898504,essv8898493,essv8898488,essv8898497,essv8898507,essv8898486,essv8898509,essv8898496,essv8898517,essv8898502,essv8898484,essv8898501 M 185 33 0 NPHP4 NA07000,NA07037,NA10847,NA11881,NA11919,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12761,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18853,NA18858,NA18907,NA18916,NA19108,NA19114,NA19116,NA19137,NA19190 esv3427069 1 5856885 5856891 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674044,essv8674045,essv8674041 M 185 3 0 NPHP4 NA12878,NA12891,NA12892 esv2763437 1 5871264 5940978 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7030745 M 1109 0 1 NPHP4 SW_1304 nsv831314 1 5872056 6045644 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442129,nssv1442162,nssv1442140,nssv1442151 M 95 0 4 KCNAB2,NPHP4 nsv1008071 1 5874830 6067125 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696763 M 29084 0 1 KCNAB2,NPHP4 nsv743 1 5884716 5929974 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9178 M 9 0 1 NPHP4 NA12156 nsv545175 1 5930033 5976217 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708954 M 17421 0 1 KCNAB2,NPHP4 nsv506919 1 5958193 5964193 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623262 M 4 0 0 NPHP4 NA18994 esv3395207 1 5959940 5960616 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652093 M 185 1 0 NPHP4 NA19240 esv33437 1 5960156 5960624 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv95744,essv97100,essv94307,essv94480,essv93021,essv92840,essv101040,essv97813,essv101160,essv99200,essv93510,essv92517,essv100607,essv94798 M 51 14 0 NPHP4 21618,21693,21791,21808,21837,21841,21863,21932,21939,22075,22128,22233,22275,22298 esv3373910 1 5960500 5960685 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808973 M 185 1 0 NPHP4 NA12878 nsv520207 1 5965521 5968851 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697281 M 2026 0 1 NPHP4 nsv1008999 1 5978755 6077316 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482459 M 29084 1 0 KCNAB2 esv2470104 1 5987298 5989575 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5382298 M 1 0 1 KCNAB2 NA18507 esv22772 1 5987337 5989520 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv17376,esv15196,esv19261 M 40 27 1 KCNAB2 NA06985,NA07037,NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 dgv65n54 1 5987699 5988401 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545178,nsv545176,nsv545177 M 17421 0 4 KCNAB2 dgv66n54 1 5987699 5988686 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545191,nsv545179,nsv545180 M 17421 3 0 KCNAB2 dgv67n54 1 5987699 5988839 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545182,nsv545181,nsv545183,nsv545193,nsv545192 M 17421 0 6 KCNAB2 nsv545186 1 5987699 5989207 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708970,nssv708971 M 17421 1 1 KCNAB2 dgv68n54 1 5987699 5989223 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545194,nsv545204,nsv545187,nsv545184,nsv545195,nsv545188,nsv545185 M 17421 19 0 KCNAB2 dgv69n54 1 5987859 5988459 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545190,nsv545189 M 17421 2 0 KCNAB2 nsv545196 1 5987859 5990227 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708989,nssv708990 M 17421 0 2 KCNAB2 nsv159264 1 5987880 5988077 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177842 M 24 KCNAB2 dgv70n54 1 5987910 5989223 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545202,nsv545201,nsv545203,nsv545197 M 17421 0 5 KCNAB2 nsv545199 1 5988013 5988634 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708993 M 17421 0 1 KCNAB2 dgv71n54 1 5988013 5988686 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545200,nsv545198 M 17421 2 0 KCNAB2 nsv545205 1 5988226 5988890 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709001 M 17421 1 0 KCNAB2 dgv72n54 1 5988226 5989223 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545207,nsv545208,nsv545211,nsv545209,nsv545206 M 17421 0 6 KCNAB2 nsv545210 1 5988336 5989223 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709008,nssv709007 M 17421 2 0 KCNAB2 esv7234 1 5988378 5989364 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29675 M 1 0 0 KCNAB2 nsv511675 1 5988444 5989387 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626313 M 1 0 1 KCNAB2 1 nsv545212 1 5988517 5989053 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709010 M 17421 0 1 KCNAB2 dgv73n54 1 5988573 5989223 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545213,nsv545215,nsv545221,nsv545216,nsv545214,nsv545220,nsv545219 M 17421 73 40 KCNAB2 nsv545217 1 5988573 5990227 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709089,nssv709090 M 17421 2 0 KCNAB2 dgv74n54 1 5988573 6002965 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545218,nsv545223,nsv545227 M 17421 3 0 KCNAB2 nsv545222 1 5988634 5990227 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709127 M 17421 0 1 KCNAB2 nsv545224 1 5988686 5989207 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709129,nssv709130 M 17421 0 2 KCNAB2 nsv511127 1 5988686 5993457 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626143 M 1 0 1 KCNAB2 1 nsv545225 1 5988737 5989223 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709131,nssv709134,nssv709133,nssv709132 M 17421 4 0 KCNAB2 nsv545226 1 5988890 5989207 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709137,nssv709136,nssv709135,nssv709138 M 17421 0 4 KCNAB2 nsv545228 1 5989053 5989207 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709140 M 17421 0 1 KCNAB2 nsv461283 1 6030964 6106679 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537694 M 1557 0 1 CHD5,KCNAB2 HGDP00491 nsv545229 1 6030964 6106679 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173650 M 17421 0 1 CHD5,KCNAB2 HGDP00491 dgv75n54 1 6063912 6126853 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545230,nsv545231 M 17421 0 2 CHD5,KCNAB2 nsv470689 1 6071709 6156160 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547694,nssv547692,nssv547691,nssv547693 M 443 0 4 CHD5,KCNAB2 HGDP00288,HGDP00323,HGDP00657,HGDP01397 nsv825697 1 6084347 6085127 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1431963 M 31 1 0 CHD5 NA18972 nsv545232 1 6086995 6091009 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709143 M 17421 1 0 CHD5 esv21998 1 6089305 6091890 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17786 M 40 1 0 CHD5 NA06985 dgv76n54 1 6089708 6091617 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545234,nsv545233 M 17421 5 0 CHD5 nsv545235 1 6090496 6091682 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709149 M 17421 0 1 CHD5 nsv831425 1 6111938 6247065 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442196,nssv1442173,nssv1442185 M 95 0 3 ACOT7,CHD5,GPR153,HES3,ICMT,LINC00337,RNF207,RPL22 nsv818555 1 6112802 6135457 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417552 M 112 0 1 CHD5 NA18971 nsv854 1 6113852 6158730 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7151 M 9 0 1 CHD5 NA12156 esv3383496 1 6131652 6132950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692396 M 185 1 0 CHD5 NA19239 nsv545236 1 6144562 6245523 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709150 M 17421 0 1 CHD5,GPR153,HES3,ICMT,LINC00337,RNF207,RPL22 nsv945755 1 6168568 6170477 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750828,nssv1750834,nssv1750827,nssv1750800,nssv1751438,nssv1750838,nssv1751448,nssv1751468,nssv1750820,nssv1750799,nssv1751464,nssv1750839,nssv1750823,nssv1750784,nssv1750824,nssv1751470,nssv1751458,nssv1751436,nssv1750826,nssv1751475,nssv1751457,nssv1751471,nssv1751449,nssv1750785,nssv1751441,nssv1750793,nssv1751454,nssv1750837,nssv1751460,nssv1751472,nssv1750825,nssv1750835,nssv1751442,nssv1750804,nssv1751467,nssv1750791,nssv1750822,nssv1750786,nssv1750821,nssv1750795,nssv1751443,nssv1750816,nssv1751452,nssv1750811,nssv1751465,nssv1750833,nssv1751440,nssv1751462,nssv1750829,nssv1750802,nssv1751451,nssv1750798,nssv1751447,nssv1751469,nssv1751450,nssv1750807,nssv1751444,nssv1751459,nssv1751437,nssv1750794,nssv1751445,nssv1750830,nssv1751446,nssv1750812,nssv1751453,nssv1751461,nssv1751439,nssv1750787,nssv1751455,nssv1750836,nssv1751456,nssv1750796,nssv1750788,nssv1750803,nssv1750789,nssv1751474,nssv1750819,nssv1750815,nssv1750792,nssv1750808,nssv1750818,nssv1751473,nssv1750814,nssv1750809,nssv1750805,nssv1750813,nssv1750783,nssv1750790,nssv1750797,nssv1750806,nssv1750831,nssv1751463,nssv1750810,nssv1750801,nssv1750817,nssv1750832,nssv1751466 M 97 10 0 RPL22 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv8n67 1 6203268 6246950 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv825919,nsv825808 M 31 2 0 ACOT7,GPR153,HES3,ICMT,LINC00337,RNF207 AK6,NA18969 nsv508825 1 6203922 6269196 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623771 M 4 1 0 ACOT7,GPR153,HES3,ICMT,LINC00337,RNF207 NA18994 nsv545237 1 6223637 6232823 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709151 M 17421 0 1 GPR153,HES3 nsv526371 1 6229842 6289806 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702667 M 2026 0 1 ACOT7,GPR153 nsv545238 1 6231157 6240570 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709152 M 17421 0 1 GPR153 nsv965 1 6235767 6280469 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7223 M 9 0 1 ACOT7,GPR153 NA12156 nsv519253 1 6245523 6252602 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696748 M 2026 0 1 ACOT7 nsv545239 1 6245523 6272462 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709153 M 17421 0 1 ACOT7 esv24092 1 6288906 6291480 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18277 M 40 0 1 ACOT7 NA19240 nsv522013 1 6289806 6379059 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694782 M 2026 0 1 ACOT7 nsv521525 1 6302194 6310371 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698142 M 2026 0 1 ACOT7 nsv1076 1 6307937 6352169 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2226 M 9 0 1 ACOT7 NA18555 nsv477455 1 6324940 6324940 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013155 M 9 1 0 ACOT7 NA18517 nsv1009548 1 6325623 6499999 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696764 M 29084 0 1 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 nsv523989 1 6333801 6379059 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699845 M 2026 0 1 ACOT7 nsv545240 1 6333801 6494762 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709154 M 17421 0 1 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 nsv545241 1 6360129 6367955 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709155 M 17421 0 1 ACOT7 esv21684 1 6360781 6368422 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12785 M 40 0 1 ACOT7 NA12044 dgv77n54 1 6361955 6368393 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545248,nsv545247,nsv545242,nsv545250,nsv545249,nsv545244,nsv545246,nsv545243,nsv545245 M 17421 0 39 ACOT7 dgv78n54 1 6364480 6368393 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545252,nsv545251 M 17421 0 5 ACOT7 dgv79n54 1 6366865 6368339 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545253,nsv545256,nsv545255,nsv545254 M 17421 0 5 ACOT7 nsv545257 1 6367554 6368393 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709205 M 17421 0 1 ACOT7 dgv2n27 1 6379059 6494762 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv461616,nsv461839,nsv461950,nsv461728 M 1557 0 4 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 1780862021_A,HGDP00814,NINDS_66,NINDS_98 dgv80n54 1 6379059 6494762 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545260,nsv545259,nsv545263,nsv545261,nsv545262,nsv545258 M 17421 0 8 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 1780862021_A,HGDP00814,NINDS_66,NINDS_98 esv29840 1 6381440 6382138 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11459 M 40 0 2 "" NA18517,NA18523 nsv508836 1 6389543 6483676 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619766 M 4 1 0 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 NA10860 esv25412 1 6399215 6444103 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv14500 M 40 1 2 ESPN,HES2,MIR4252,TNFRSF25 NA12489,NA18916,NA19147 nsv7880 1 6400615 6594561 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv11789,nssv24605,nssv21438 M 31 1 2 ESPN,HES2,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 NA18517,NA18564,NA19173 nsv482179 1 6407435 6443590 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558540 M 1 1 0 ESPN,MIR4252 KB1 nsv831536 1 6411973 6587990 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442340,nssv1442207,nssv1442351,nssv1442240,nssv1442296,nssv1442307,nssv1442373,nssv1442284,nssv1442273,nssv1442329,nssv1442229,nssv1442262,nssv1442362,nssv1442218,nssv1442251,nssv1442318 M 95 0 16 ESPN,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 dgv9n67 1 6412513 6447077 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv826030,nsv826142 M 31 2 0 ESPN,MIR4252,TNFRSF25 NA18564,NA18969 nsv470690 1 6416986 6494762 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547695 M 443 1 0 ESPN,PLEKHG5,TNFRSF25 HGDP00553 nsv545264 1 6439766 6475086 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709210 M 17421 0 1 ESPN,PLEKHG5,TNFRSF25 nsv470691 1 6442898 6500352 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547696 M 443 0 1 ESPN,PLEKHG5,TNFRSF25 HGDP00978 nsv462061 1 6446017 6503483 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538332 M 1557 0 1 PLEKHG5,TNFRSF25 HGDP00614 nsv545265 1 6446017 6503483 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173655 M 17421 0 1 PLEKHG5,TNFRSF25 HGDP00614 nsv545266 1 6447088 6453022 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709211 M 17421 0 1 PLEKHG5,TNFRSF25 nsv545267 1 6448911 6486743 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709212 M 17421 0 1 PLEKHG5 nsv1187 1 6470431 6490052 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3152 M 9 1 0 PLEKHG5 NA12878 nsv545268 1 6472963 6560651 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709213 M 17421 0 1 NOL9,PLEKHG5,TAS1R1 nsv473388 1 6481766 6481766 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011403 M 9 1 0 PLEKHG5 NA19129 nsv831647 1 6508456 6570177 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442540,nssv1442407,nssv1442473,nssv1442418,nssv1442495,nssv1442384,nssv1442529,nssv1442440,nssv1442451,nssv1442462,nssv1442429,nssv1442395,nssv1442506,nssv1442484,nssv1442518 M 95 0 15 NOL9,TAS1R1,ZBTB48 nsv545269 1 6529195 6612727 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709214 M 17421 0 1 KLHL21,NOL9,PHF13,TAS1R1,THAP3,ZBTB48 esv1249079 1 6541559 6541559 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4064753 M 2 1 0 TAS1R1 HuRef esv3302807 1 6543126 6552906 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7734013,essv7736227,essv7733376 M 185 0 0 TAS1R1 NA18517,NA18871,NA18945 nsv476608 1 6559733 6559733 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012014 M 9 1 0 TAS1R1 NA12878 nsv472111 1 6571147 6571147 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011064 M 9 1 0 ZBTB48 NA18555 nsv826253 1 6582832 6611290 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426369 M 31 1 0 KLHL21,PHF13,THAP3 AK6 nsv437199 1 6624738 6726334 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467080 M 60 0 1 DNAJC11,LOC100505887 NA19205 nsv1004598 1 6627943 7161250 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470065 M 29084 1 0 CAMTA1,DNAJC11,LOC100505887 nsv945756 1 6648785 6649695 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750849,nssv1750898,nssv1750924,nssv1750893,nssv1750861,nssv1750915,nssv1750842,nssv1750911,nssv1750855,nssv1750903,nssv1750854,nssv1750910,nssv1750922,nssv1750896,nssv1750853,nssv1750914,nssv1750862,nssv1750840,nssv1750847,nssv1750907,nssv1750845,nssv1750902,nssv1750925,nssv1750865,nssv1750846,nssv1750906,nssv1750923,nssv1750878,nssv1750920,nssv1750882,nssv1750871,nssv1750880,nssv1750917,nssv1750936,nssv1750864,nssv1750873,nssv1750859,nssv1750929,nssv1750850,nssv1750879,nssv1750852,nssv1750877,nssv1750921,nssv1750887,nssv1750856,nssv1750875,nssv1750844,nssv1750894,nssv1750868,nssv1750901,nssv1750926,nssv1750934,nssv1750848,nssv1750881,nssv1750919,nssv1750863,nssv1750858,nssv1750897,nssv1750860,nssv1750905,nssv1750857,nssv1750932,nssv1750851,nssv1750883,nssv1750843,nssv1750899,nssv1750841,nssv1750892,nssv1750869,nssv1750866,nssv1750918,nssv1750890,nssv1750867,nssv1750927,nssv1750930,nssv1750891,nssv1750935,nssv1750931,nssv1750908,nssv1750913,nssv1750904,nssv1750900,nssv1750909,nssv1750889,nssv1750876,nssv1750888,nssv1750912,nssv1750870,nssv1750872,nssv1750886,nssv1750916,nssv1750874,nssv1750895,nssv1750928,nssv1750933,nssv1750885,nssv1750884 M 97 10 0 DNAJC11 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2640779 1 6651194 6652460 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5234545 M 1 0 1 DNAJC11 NA18507 esv2237641 1 6651805 6652374 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4834781 M 1 0 1 DNAJC11 NA18507 nsv1298 1 6660795 6681039 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4861 M 9 1 0 DNAJC11 NA19129 nsv525013 1 6679021 6683848 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701050 M 2026 0 1 DNAJC11 esv28409 1 6685213 6686083 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18257 M 40 0 1 "" NA18909 esv28362 1 6710103 6715982 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14015 M 40 1 0 LOC100505887 NA19225 nsv512713 1 6725094 6725389 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625337 M 1 1 0 "" 1 esv1464790 1 6725208 6725208 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3709090 M 2 1 0 "" HuRef esv1979443 1 6781129 6781558 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4873252 M 1 0 1 CAMTA1 NA18507 esv1086035 1 6781239 6781418 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3780745 M 2 0 1 CAMTA1 HuRef esv999225 1 6781243 6781419 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3581910 M 3 0 1 CAMTA1 HuRef esv25521 1 6783932 6784505 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20468 M 40 0 1 CAMTA1 NA18909 esv2556451 1 6923003 6923833 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5345164 M 1 1 0 CAMTA1 NA18507 esv3351162 1 6923407 6923626 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652095 M 185 1 0 CAMTA1 NA19240 nsv512714 1 6923530 6923586 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625338 M 1 1 0 CAMTA1 1 esv1590628 1 6923582 6923582 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4106152 M 2 1 0 CAMTA1 HuRef dgv81n54 1 6937031 6946809 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545271,nsv545270,nsv545272 M 17421 3 0 CAMTA1 nsv545273 1 6938696 6945828 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709218 M 17421 0 1 CAMTA1 dgv82n54 1 6943214 6946081 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545274,nsv545275,nsv545276 M 17421 0 3 CAMTA1 esv28688 1 6945255 6946116 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12322 M 40 0 2 CAMTA1 NA12489,NA18517 dgv83n54 1 6945286 6945879 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545279,nsv545278,nsv545284,nsv545285 M 17421 0 21 CAMTA1 dgv84n54 1 6945286 6945918 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545286,nsv545277 M 17421 2 0 CAMTA1 dgv85n54 1 6945286 6946081 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545288,nsv545282,nsv545280,nsv545281,nsv545290 M 17421 145 45 CAMTA1 nsv545283 1 6945286 6946809 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709433,nssv709432,nssv709431,nssv709430,nssv709429,nssv709428,nssv709427,nssv709426 M 17421 4 4 CAMTA1 dgv86n54 1 6945337 6946025 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545292,nsv545294,nsv545287 M 17421 0 9 CAMTA1 nsv545289 1 6945337 6946809 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709443,nssv709444 M 17421 0 2 CAMTA1 dgv87n54 1 6945361 6946081 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545291,nsv545295,nsv545293 M 17421 3 0 CAMTA1 nsv545296 1 6945774 6945879 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709457 M 17421 0 1 CAMTA1 nsv545297 1 6945774 6946025 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709459,nssv709458 M 17421 0 2 CAMTA1 nsv545298 1 6945879 6946025 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709460 M 17421 0 1 CAMTA1 esv2482000 1 6966217 6967286 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5354983 M 1 1 0 CAMTA1 NA18507 esv988826 1 7000790 7000790 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566621 M 3 1 0 CAMTA1 HuRef nsv519205 1 7012803 7022247 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696693 M 2026 0 1 CAMTA1 esv990496 1 7069978 7082370 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563883 M 3 0 1 CAMTA1 HuRef dgv33e59 1 7085752 7087250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3449661,esv3439401,esv3448182 M 185 3 0 CAMTA1 NA19238,NA19239,NA19240 esv2444029 1 7086693 7086841 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5208770 M 1 0 1 CAMTA1 NA18507 esv1124399 1 7097432 7097873 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4044198 M 2 0 1 CAMTA1 HuRef nsv462394 1 7108912 7154071 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538567 M 1557 0 1 CAMTA1 HGDP00797 nsv545299 1 7108912 7154071 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173656 M 17421 0 1 CAMTA1 HGDP00797 nsv476621 1 7243072 7243072 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013335 M 9 1 0 CAMTA1 NA12878 esv275496 1 7247055 7247995 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2586154 M 1250 0 1 CAMTA1 nsv1001550 1 7322991 7374597 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3480881 M 29084 1 0 CAMTA1 nsv1410 1 7338213 7362575 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1411 M 9 1 0 CAMTA1 NA19240 nsv527338 1 7405633 7408904 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703764 M 2026 0 1 CAMTA1 esv3363193 1 7408793 7408877 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674084 M 185 1 0 CAMTA1 NA19238 esv3345755 1 7408827 7408846 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593491 M 185 1 0 CAMTA1 NA19141 esv3304817 1 7408828 7408829 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7771632,essv7827924,essv7825960,essv7791741,essv7781222,essv7811156,essv7782120 M 185 7 0 CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108,NA19141,NA19238 esv3421992 1 7408835 7408851 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898522,essv8898521,essv8898524,essv8898523,essv8898520 M 185 5 0 CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108 nsv831758 1 7413944 7594260 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442584,nssv1442562,nssv1442551,nssv1442573 M 95 1 3 CAMTA1 nsv522589 1 7430229 7441851 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705976 M 2026 0 1 CAMTA1 nsv518903 1 7435612 7441285 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696361 M 2026 0 1 CAMTA1 esv3394495 1 7462252 7463750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692404 M 185 1 0 CAMTA1 NA19240 nsv526782 1 7469799 7472075 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703134 M 2026 0 1 CAMTA1 esv2647714 1 7475559 7475822 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5309036 M 1 0 1 CAMTA1 NA18507 esv1935214 1 7475977 7476287 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4549214 M 1 0 1 CAMTA1 NA18507 nsv527595 1 7479739 7489999 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704056 M 2026 0 1 CAMTA1 nsv545300 1 7479739 7489999 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709461 M 17421 0 1 CAMTA1 dgv34e59 1 7480052 7483350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3370220,esv3369338 M 185 2 0 CAMTA1 NA19239,NA19240 esv3410484 1 7480852 7483050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692407 M 185 1 0 CAMTA1 NA19238 nsv826364 1 7489022 7490019 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1421439 M 31 1 0 CAMTA1 NA18997 nsv545301 1 7489999 7493658 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709462 M 17421 0 1 CAMTA1 nsv7991 1 7491072 7494340 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv26894 M 31 1 0 CAMTA1 NA18860 esv28432 1 7491802 7494108 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv12117 M 40 28 1 CAMTA1 NA06985,NA11931,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820592 1 7491802 7494188 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420846 M 1 0 1 CAMTA1 NA10851 nsv826475 1 7491802 7494188 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1425484,nssv1430329,nssv1422357,nssv1438581,nssv1427245,nssv1421440,nssv1426370,nssv1423943,nssv1431057,nssv1440113,nssv1428015,nssv1424725,nssv1431790 M 31 0 13 CAMTA1 AK10,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18552,NA18564,NA18582,NA18973,NA18997 esv2592830 1 7492204 7494913 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5286155 M 1 0 1 CAMTA1 NA18507 dgv88n54 1 7492401 7493658 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545307,nsv545312,nsv545311,nsv545302,nsv545313 M 17421 0 11 CAMTA1 dgv89n54 1 7492401 7494050 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545306,nsv545310,nsv545303,nsv545316 M 17421 0 91 CAMTA1 esv7233 1 7492401 7494353 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29674 M 1 0 0 CAMTA1 dgv90n54 1 7492401 7494849 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545304,nsv545305 M 17421 0 2 CAMTA1 nsv819302 1 7492405 7494002 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419290 M 2 0 1 CAMTA1 AK1 esv2190574 1 7492498 7494279 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4836092 M 1 0 1 CAMTA1 NA18507 dgv91n54 1 7492563 7493913 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545314,nsv545308,nsv545315,nsv545309 M 17421 0 11 CAMTA1 esv3915 1 7492621 7494271 CNV loss Wang_et_al_2008 18987735 Sequencing essv26356 M 1 0 1 CAMTA1 YH dgv92n54 1 7492663 7494583 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545326,nsv545330,nsv545334,nsv545323,nsv545317,nsv545332 M 17421 0 14 CAMTA1 dgv10n67 1 7492810 7493979 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv826586,nsv826697 M 31 2 0 CAMTA1 NA18968,NA18969 dgv93n54 1 7492819 7493658 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545318,nsv545319 M 17421 0 6 CAMTA1 dgv94n54 1 7492819 7494050 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545331,nsv545329,nsv545325,nsv545322,nsv545328,nsv545324,nsv545320,nsv545327,nsv545321 M 17421 0 36 CAMTA1 nsv545333 1 7493147 7494050 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709633,nssv709632,nssv709636,nssv709635,nssv709634,nssv709637,nssv709639,nssv709638 M 17421 0 8 CAMTA1 nsv545335 1 7493147 7498253 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709642 M 17421 0 1 CAMTA1 nsv826808 1 7493150 7493730 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436326 M 31 1 0 CAMTA1 NA18542 esv2758918 1 7494050 7610646 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756834 M 270 1 0 CAMTA1 NA19152 esv23816 1 7500245 7502465 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15537 M 40 0 1 CAMTA1 NA18916 esv3310514 1 7502014 7503442 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843513 M 185 1 0 CAMTA1 NA19240 nsv512715 1 7502743 7503046 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625339 M 1 1 0 CAMTA1 1 esv3347816 1 7502792 7503003 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652098 M 185 1 0 CAMTA1 NA19240 esv993163 1 7531319 7531545 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3579404 M 3 0 1 CAMTA1 HuRef esv1611358 1 7531327 7531554 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860626 M 2 0 1 CAMTA1 HuRef nsv1011512 1 7545040 7589562 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696765 M 29084 0 1 CAMTA1 dgv35e59 1 7550152 7552750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3352384,esv3413631,esv3418027 M 185 3 0 CAMTA1 NA19238,NA19239,NA19240 esv2764250 1 7553311 7557794 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004919,essv7004920 M 1109 0 2 CAMTA1 RW_0530,RW_0546 nsv520077 1 7560566 7567389 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697212 M 2026 0 1 CAMTA1 dgv36e59 1 7637052 7638550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3418679,esv3350641 M 185 2 0 CAMTA1 NA19239,NA19240 esv8105 1 7637194 7638277 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30546 M 1 0 0 CAMTA1 esv1977744 1 7637619 7637973 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4674847 M 1 0 1 CAMTA1 NA18507 esv28595 1 7685616 7688145 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13845 M 40 1 0 CAMTA1 NA06985 nsv545336 1 7685801 7688041 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709643 M 17421 0 1 CAMTA1 esv3418854 1 7714665 7714676 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863673 M 185 1 0 CAMTA1 NA12005 nsv161033 1 7778984 7787527 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179611 M 24 PER3 esv991458 1 7812574 7812627 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570335 M 3 0 1 PER3 HuRef nsv477904 1 7821296 7821296 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016187 M 9 1 0 PER3 NA18517 esv3451111 1 7839264 7839264 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701371 M 185 1 0 "" NA12878 esv1585189 1 7845636 7845696 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3804508 M 2 0 1 "" HuRef esv9095 1 7847453 7848232 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31536 M 1 0 0 "" esv5046 1 7847521 7848259 CNV loss Wang_et_al_2008 18987735 Sequencing essv27487 M 1 0 1 "" YH nsv160721 1 7847524 7847971 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179299 M 24 "" esv29691 1 7847539 7848144 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10705 M 40 0 4 "" NA12004,NA12749,NA18502,NA18858 nsv821110 1 7847539 7848144 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420957 M 1 0 1 "" NA10851 esv3302892 1 7895782 7896129 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7736127 M 185 0 0 "" NA19093 nsv1521 1 7936826 7970080 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2406 M 9 1 0 PARK7 NA18555 esv2403277 1 7972997 7973356 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4650492 M 1 0 1 "" NA18507 esv6796 1 8009476 8009650 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29237 M 1 0 0 "" nsv945757 1 8039663 8046343 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751015,nssv1750995,nssv1750940,nssv1751013,nssv1751021,nssv1751009,nssv1750943,nssv1750985,nssv1751019,nssv1750967,nssv1750951,nssv1751000,nssv1750966,nssv1750999,nssv1751022,nssv1750988,nssv1750959,nssv1750973,nssv1750950,nssv1750980,nssv1750952,nssv1752570,nssv1751017,nssv1750983,nssv1750939,nssv1752571,nssv1751020,nssv1752572,nssv1750968,nssv1750976,nssv1750961,nssv1751025,nssv1750942,nssv1751004,nssv1750944,nssv1751026,nssv1751018,nssv1751002,nssv1750958,nssv1752568,nssv1750953,nssv1750992,nssv1750946,nssv1750970,nssv1750947,nssv1750963,nssv1750948,nssv1750971,nssv1750941,nssv1750993,nssv1750949,nssv1751011,nssv1751023,nssv1750990,nssv1751016,nssv1750986,nssv1750945,nssv1750981,nssv1750965,nssv1751007,nssv1750957,nssv1751012,nssv1750955,nssv1751003,nssv1750954,nssv1750962,nssv1750938,nssv1750937,nssv1750956,nssv1751001,nssv1751014,nssv1750996,nssv1750960,nssv1750998,nssv1750969,nssv1750982,nssv1750994,nssv1752573,nssv1750991,nssv1750975,nssv1752569,nssv1750984,nssv1750977,nssv1750978,nssv1750974,nssv1751010,nssv1751005,nssv1750989,nssv1751008,nssv1751027,nssv1751006,nssv1750964,nssv1750979,nssv1750972,nssv1750997,nssv1751024,nssv1750987 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1014727 1 8041849 8298500 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478359 M 29084 1 0 "" nsv528132 1 8067881 8069744 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704677 M 2026 0 1 "" esv2764230 1 8095956 8111872 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004937,essv7004924,essv7004928,essv7004926,essv7004932,essv7004925,essv7004935,essv7004931,essv7004939,essv7004927,essv7004921,essv7004938,essv7004930,essv7004929,essv7004934,essv7004940,essv7004923,essv7004936 M 1109 0 18 "" RW_0013,RW_0043,RW_0049,RW_0098,RW_0118,RW_0129,RW_0155,RW_0162,RW_0174,RW_0190,RW_0220,RW_0229,RW_0234,RW_0253,RW_0552,RW_0619,RW_0626,RW_0634 esv25059 1 8105031 8113962 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14504 M 40 0 2 "" NA07045,NA19108 esv2421513 1 8105049 8112441 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5113994,essv5031289,essv5073414,essv5021464,essv5022989,essv5114664,essv5080397,essv5015810,essv5142796,essv5120988,essv5019834,essv5078502,essv5120024,essv5147348,essv5012227,essv5088579,essv5142988,essv5053733,essv5053091,essv5107816,essv5075870,essv5159857,essv5143136,essv5038470,essv5141409,essv5115860,essv5028046,essv5009796,essv5016176,essv5037691,essv5146224,essv5154659,essv5132727,essv5003208,essv5071617,essv5014120,essv5005423,essv5060745,essv5022164 M 1184 0 39 "" NA06997,NA07045,NA18933,NA19035,NA19107,NA19108,NA19109,NA19127,NA19153,NA19154,NA19204,NA19207,NA19213,NA19215,NA19313,NA19318,NA19321,NA19352,NA19373,NA19374,NA19403,NA19437,NA19471,NA19472,NA19664,NA19701,NA19702,NA19704,NA19915,NA20288,NA20297,NA20343,NA20347,NA20363,NA21295,NA21317,NA21424,NA21580,NA21596 nsv442907 1 8105171 8111872 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617669,nssv1617691,nssv1617658,nssv1617702,nssv1617680,nssv1617647 M 270 0 6 "" NA19127,NA19153,NA19154,NA19204,NA19205,NA19207 nsv545337 1 8123277 8133522 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709644 M 17421 1 0 "" esv2763847 1 8124944 8131908 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7031412,essv7030856,essv7031301,essv7031190,essv7031078,essv7030967 M 1109 6 0 "" SW_0568,SW_1045,SW_1057,SW_1111,SW_1127,SW_1166 nsv831870 1 8125994 8276744 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442595,nssv1442641,nssv1442606,nssv1442617,nssv1442652,nssv1442630 M 95 0 6 "" esv22301 1 8126671 8133714 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10444 M 40 3 0 "" NA11931,NA12004,NA12239 dgv95n54 1 8127306 8133661 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545339,nsv545338,nsv545340 M 17421 4 0 "" nsv441679 1 8128717 8131908 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1656568,nssv1656569,nssv1656570,nssv1656575,nssv1656576,nssv1656573,nssv1656577,nssv1656578,nssv1656574,nssv1656580,nssv1656579,nssv1656571,nssv1656572 M 270 13 0 "" NA07019,NA07022,NA10854,NA10857,NA11831,NA11840,NA12004,NA12043,NA12146,NA12155,NA12236,NA12239,NA12752 esv23800 1 8139415 8163405 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv15760 M 40 1 0 "" NA12156 nsv545341 1 8139674 8148168 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709649 M 17421 1 0 "" nsv545342 1 8139674 8152767 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709650 M 17421 1 0 "" nsv545343 1 8146419 8197871 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709651 M 17421 0 1 "" nsv1632 1 8160996 8206161 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7290 M 9 0 1 "" NA12156 nsv1012977 1 8235169 8467857 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696766 M 29084 0 1 RERE,SLC45A1 esv1547514 1 8259524 8259524 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3685454 M 2 1 0 "" HuRef nsv947411 1 8283342 8295821 CNV deletion Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2762787 M 97 0 1 "" HGDP00998 nsv1743 1 8300340 8334303 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3033 M 9 1 0 SLC45A1 NA18555 nsv512716 1 8304272 8305144 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625340 M 1 1 0 "" 1 esv2601359 1 8304404 8305201 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5225689 M 1 1 0 "" NA18507 nsv516827 1 8313475 8346097 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv693483,nssv693424,nssv685632,nssv657128,nssv671511,nssv679037,nssv684816,nssv654276,nssv656941 M 2026 0 9 RERE,SLC45A1 esv1250756 1 8314094 8314094 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4006791 M 2 1 0 SLC45A1 HuRef esv2624373 1 8326992 8327926 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5304328 M 1 1 0 "" NA18507 esv1162151 1 8327542 8327542 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4276612 M 2 1 0 "" HuRef nsv545344 1 8338108 8356587 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709652 M 17421 0 1 RERE nsv819494 1 8338735 8344018 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419699 M 2 1 0 RERE AK1 esv990980 1 8358166 8358166 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3583268 M 3 1 0 RERE HuRef esv3404682 1 8369205 8369224 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593546,essv9593558,essv9593502,essv9593569,essv9593513,essv9593524,essv9593580,essv9593591,essv9593535 M 185 9 0 RERE NA11931,NA12249,NA12287,NA12812,NA12814,NA12874,NA18970,NA19141,NA19143 nsv524946 1 8378299 8394751 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700963 M 2026 0 1 RERE nsv947412 1 8402161 8404693 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2762537 M 97 1 0 RERE HGDP00998 nsv1012632 1 8402737 8806093 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473413 M 29084 1 0 RERE esv3360802 1 8424569 8424588 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593635,essv9593602,essv9593624,essv9593613 M 185 4 0 RERE NA11931,NA12045,NA12287,NA12814 esv3305985 1 8424578 8424579 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7768946,essv7766623,essv7767274,essv7764325,essv7769792,essv7769164 M 185 6 0 RERE NA11894,NA11931,NA12045,NA12287,NA12814,NA12874 nsv479019 1 8432570 8432570 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019838 M 9 0 0 RERE esv3441259 1 8450894 8450913 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593646 M 185 1 0 RERE NA11931 esv25533 1 8473045 8474309 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13828,esv11693 M 40 0 4 RERE NA18517,NA18858,NA19129,NA19190 esv3391677 1 8492050 8492050 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740979 M 185 1 0 RERE NA19240 nsv159615 1 8500203 8503822 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178193 M 24 RERE nsv947413 1 8592006 8597044 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2765449,nssv2761317,nssv2756775,nssv2757427 M 97 4 0 RERE HGDP00456,HGDP00778,HGDP00927,HGDP01029 nsv826919 1 8593977 8596557 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423363 M 31 1 0 RERE NA18968 esv26500 1 8594205 8608321 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv17365,esv13894,esv15623,esv10195 M 40 2 28 RERE NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19225,NA19240 nsv945758 1 8597044 8599016 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752579,nssv1752574,nssv1752582,nssv1752581,nssv1752575,nssv1752576,nssv1752580,nssv1752583,nssv1752578,nssv1752577 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv827030 1 8597147 8607597 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1435647 M 31 0 1 RERE NA18566 esv2407042 1 8628533 8628957 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4792099 M 1 0 1 RERE NA18507 esv27511 1 8637775 8642826 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17675 M 40 2 0 RERE NA15510,NA18861 nsv827141 1 8638338 8642367 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423374 M 31 1 0 RERE NA18968 esv2384996 1 8651416 8651857 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4771378 M 1 0 1 RERE NA18507 esv25426 1 8689030 8697499 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17965 M 40 0 1 RERE NA18508 nsv1006756 1 8694027 8731636 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469495 M 29084 1 0 RERE nsv945760 1 8731562 8734291 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752623,nssv1752585,nssv1752635,nssv1752587,nssv1752632,nssv1752600,nssv1752654,nssv1752591,nssv1752652,nssv1752669,nssv1752636,nssv1752668,nssv1752656,nssv1752593,nssv1752633,nssv1752586,nssv1752618,nssv1752604,nssv1752611,nssv1752603,nssv1752634,nssv1752664,nssv1752640,nssv1752598,nssv1752628,nssv1752612,nssv1752642,nssv1752661,nssv1752626,nssv1752590,nssv1752672,nssv1752662,nssv1752638,nssv1752605,nssv1752627,nssv1752613,nssv1752646,nssv1752595,nssv1752637,nssv1752594,nssv1752584,nssv1752606,nssv1752647,nssv1752615,nssv1752607,nssv1752599,nssv1752648,nssv1752665,nssv1752644,nssv1752608,nssv1752629,nssv1752589,nssv1752614,nssv1752588,nssv1752620,nssv1752667,nssv1752649,nssv1752597,nssv1752678,nssv1752592,nssv1752651,nssv1752663,nssv1752677,nssv1752666,nssv1752674,nssv1752670,nssv1752621,nssv1752596,nssv1752675,nssv1752602,nssv1752625,nssv1752601,nssv1752680,nssv1752645,nssv1752610,nssv1752631,nssv1752673,nssv1752643,nssv1752624,nssv1752671,nssv1752655,nssv1752657,nssv1752659,nssv1752679,nssv1752653,nssv1752619,nssv1752609,nssv1752660,nssv1752641,nssv1752639,nssv1752617,nssv1752616,nssv1752630,nssv1752650,nssv1752658,nssv1752622,nssv1752676 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1854 1 8748742 8782277 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7349 M 9 1 0 RERE NA12156 nsv945761 1 8767810 8772287 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752682,nssv1752757,nssv1752709,nssv1752706,nssv1752699,nssv1752747,nssv1752765,nssv1752738,nssv1752688,nssv1752733,nssv1752759,nssv1752717,nssv1752695,nssv1752707,nssv1752702,nssv1752751,nssv1752710,nssv1752727,nssv1752683,nssv1752731,nssv1752766,nssv1752725,nssv1752761,nssv1752708,nssv1752700,nssv1752749,nssv1752684,nssv1752715,nssv1752687,nssv1752741,nssv1752691,nssv1752755,nssv1752758,nssv1752743,nssv1752701,nssv1752713,nssv1752692,nssv1752777,nssv1752703,nssv1752735,nssv1752762,nssv1752739,nssv1752690,nssv1752704,nssv1752705,nssv1752714,nssv1752693,nssv1752756,nssv1752686,nssv1752737,nssv1752697,nssv1752732,nssv1752763,nssv1752773,nssv1752685,nssv1752753,nssv1752764,nssv1752745,nssv1752712,nssv1752748,nssv1752694,nssv1752723,nssv1752689,nssv1752730,nssv1752760,nssv1752726,nssv1752767,nssv1752750,nssv1752696,nssv1752716,nssv1752698,nssv1752736,nssv1752771,nssv1752734,nssv1752774,nssv1752775,nssv1752744,nssv1752769,nssv1752719,nssv1752681,nssv1752728,nssv1752718,nssv1752742,nssv1752729,nssv1752772,nssv1752740,nssv1752746,nssv1752711,nssv1752722,nssv1752770,nssv1752724,nssv1752752,nssv1752776,nssv1752754,nssv1752720,nssv1752768,nssv1752721 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945762 1 8805956 8819390 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752799,nssv1752811,nssv1752779,nssv1753236,nssv1752793,nssv1752828,nssv1753255,nssv1752816,nssv1753248,nssv1752825,nssv1752806,nssv1753238,nssv1752786,nssv1753256,nssv1752788,nssv1752804,nssv1753253,nssv1752808,nssv1752785,nssv1753264,nssv1752809,nssv1752839,nssv1752797,nssv1753240,nssv1753251,nssv1752833,nssv1752784,nssv1752813,nssv1752807,nssv1752819,nssv1752790,nssv1753241,nssv1753249,nssv1753257,nssv1752792,nssv1753258,nssv1752798,nssv1753243,nssv1753254,nssv1752814,nssv1752789,nssv1753239,nssv1753246,nssv1753265,nssv1752800,nssv1753242,nssv1752802,nssv1753259,nssv1752783,nssv1753245,nssv1752794,nssv1753235,nssv1753250,nssv1752826,nssv1753247,nssv1752835,nssv1752781,nssv1752830,nssv1752782,nssv1752824,nssv1752780,nssv1752836,nssv1752795,nssv1752810,nssv1753252,nssv1752803,nssv1752796,nssv1752805,nssv1752791,nssv1752820,nssv1752787,nssv1752838,nssv1752831,nssv1752821,nssv1753262,nssv1753261,nssv1753237,nssv1753244,nssv1753263,nssv1752812,nssv1752801,nssv1752834,nssv1752827,nssv1752817,nssv1753233,nssv1752829,nssv1752823,nssv1752841,nssv1752832,nssv1752822,nssv1752818,nssv1752840,nssv1752815,nssv1752778,nssv1753234,nssv1753260,nssv1752837 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2758919 1 8810828 8839227 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757721 M 270 1 0 "" NA18863 nsv1010058 1 8813369 8827736 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469656 M 29084 1 0 "" nsv545345 1 8813712 9018197 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709653 M 17421 1 0 CA6,ENO1,ENO1-AS1,MIR6728,SLC2A7 nsv1001865 1 8826518 8855829 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463122 M 29084 1 0 ENO1,MIR6728 nsv945763 1 8876213 8886596 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753276,nssv1753305,nssv1753284,nssv1753356,nssv1753275,nssv1753341,nssv1753267,nssv1753319,nssv1753351,nssv1753332,nssv1753294,nssv1753354,nssv1753287,nssv1753310,nssv1753279,nssv1753296,nssv1753283,nssv1753357,nssv1753268,nssv1753320,nssv1753350,nssv1753324,nssv1753272,nssv1753337,nssv1753273,nssv1753314,nssv1753295,nssv1753330,nssv1753297,nssv1753353,nssv1753285,nssv1753361,nssv1753343,nssv1753313,nssv1753346,nssv1753326,nssv1753352,nssv1753333,nssv1753344,nssv1753322,nssv1753345,nssv1753303,nssv1753348,nssv1753359,nssv1753269,nssv1753316,nssv1753349,nssv1753327,nssv1753280,nssv1753302,nssv1753278,nssv1753300,nssv1753347,nssv1753301,nssv1753271,nssv1753340,nssv1753277,nssv1753318,nssv1753290,nssv1753336,nssv1753286,nssv1753291,nssv1753282,nssv1753338,nssv1753288,nssv1753289,nssv1753274,nssv1753312,nssv1753281,nssv1753342,nssv1753270,nssv1753307,nssv1753266,nssv1753362,nssv1753355,nssv1753339,nssv1753331,nssv1753311,nssv1753317,nssv1753325,nssv1753321,nssv1753293,nssv1753323,nssv1753358,nssv1753329,nssv1753309,nssv1753292,nssv1753306,nssv1753298,nssv1753315,nssv1753360,nssv1753308,nssv1753328,nssv1753334,nssv1753335,nssv1753304,nssv1753299 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945764 1 8888405 8892485 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753442,nssv1753435,nssv1753377,nssv1753363,nssv1753391,nssv1753390,nssv1753364,nssv1753413,nssv1753383,nssv1753426,nssv1753384,nssv1753428,nssv1753378,nssv1753456,nssv1753448,nssv1753403,nssv1753371,nssv1753402,nssv1753380,nssv1753431,nssv1753445,nssv1753393,nssv1753447,nssv1753427,nssv1753373,nssv1753438,nssv1753376,nssv1753401,nssv1753370,nssv1753395,nssv1753381,nssv1753389,nssv1753446,nssv1753432,nssv1753382,nssv1753416,nssv1753443,nssv1753421,nssv1753392,nssv1753454,nssv1753449,nssv1753412,nssv1753365,nssv1753405,nssv1753366,nssv1753450,nssv1753441,nssv1753423,nssv1753375,nssv1753451,nssv1753394,nssv1753396,nssv1753367,nssv1753417,nssv1753372,nssv1753434,nssv1753374,nssv1753410,nssv1753444,nssv1753430,nssv1753368,nssv1753407,nssv1753369,nssv1753458,nssv1753387,nssv1753429,nssv1753379,nssv1753419,nssv1753385,nssv1753400,nssv1753440,nssv1753399,nssv1753439,nssv1753424,nssv1753437,nssv1753398,nssv1753425,nssv1753411,nssv1753397,nssv1753459,nssv1753453,nssv1753422,nssv1753418,nssv1753414,nssv1753404,nssv1753455,nssv1753436,nssv1753415,nssv1753406,nssv1753433,nssv1753420,nssv1753457,nssv1753408,nssv1753388,nssv1753452,nssv1753386,nssv1753409 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv527110 1 8913728 8914460 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703492 M 2026 0 1 "" esv2763506 1 8924074 8950501 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7031523 M 1109 1 0 CA6 SW_1056 nsv1965 1 8926325 8930244 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3239 M 9 1 0 CA6 NA12878 esv2762130 1 8930143 8935324 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004941 M 1109 0 1 CA6 RW_0183 nsv516097 1 8931993 8934309 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv660321,nssv660728,nssv666175,nssv671923,nssv671111,nssv671439,nssv660579,nssv692368,nssv669183 M 2026 0 9 CA6 nsv471857 1 8943304 8943304 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020083 M 9 1 0 CA6 NA18555 nsv526389 1 8961609 8972459 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702688 M 2026 0 1 "" esv2763512 1 8961609 8979094 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7031634 M 1109 0 1 "" SW_1309 nsv1009004 1 8962291 8997052 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482463 M 29084 0 1 SLC2A7 dgv15n100 1 8974741 9039330 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009990,nsv1005347 M 29084 0 2 SLC2A5,SLC2A7 nsv462616 1 8981133 9003553 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538732 M 1557 1 0 SLC2A7 HGDP00806 nsv525092 1 8981133 9003553 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv701151 M 2026 1 0 SLC2A7 nsv545346 1 8981133 9003553 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173657 M 17421 1 0 SLC2A7 HGDP00806 nsv1004025 1 8983629 9051732 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467938 M 29084 1 0 SLC2A5,SLC2A7 nsv462727 1 9002998 9055643 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538823 M 1557 0 1 SLC2A5,SLC2A7 1780854205_A nsv545347 1 9002998 9055643 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173658 M 17421 0 1 SLC2A5,SLC2A7 1780854205_A nsv831981 1 9014304 9170154 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442663 M 95 0 1 GPR157,MIR34A,SLC2A5 esv1504235 1 9036107 9036107 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3665009 M 2 1 0 SLC2A5 HuRef esv1740239 1 9036142 9036142 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4265262 M 2 1 0 SLC2A5 HuRef nsv512717 1 9043542 9044383 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625341 M 1 1 0 SLC2A5 1 esv2422210 1 9089163 9197219 CNV duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP array essv5161558 M 181 1 0 GPR157,MIR34A ND01701 esv1519481 1 9098831 9098831 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4133256 M 2 1 0 GPR157 HuRef nsv832092 1 9109155 9287189 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442674 M 95 0 1 GPR157,H6PD,MIR34A,SPSB1 esv3385422 1 9152896 9153560 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652100 M 185 1 0 "" NA19240 dgv16n100 1 9220247 9334056 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010537,nsv1009914,nsv1009956,nsv1004906,nsv1014684,nsv1002217,nsv1011354,nsv1006294,nsv1013944,nsv999955 M 29084 17 0 H6PD,SPSB1 esv2763409 1 9230624 9327604 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7032634,essv7031967,essv7031856,essv7032189,essv7031745,essv7032078,essv7032412,essv7032523,essv7032301 M 1109 9 0 H6PD,SPSB1 SW_0009,SW_0072,SW_0189,SW_0199,SW_0641,SW_1193,SW_1358,SW_1467,SW_1503 dgv96n54 1 9232333 9310031 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545358,nsv545359,nsv545352,nsv545351,nsv545348 M 17421 9 0 H6PD,SPSB1 1780854392_A dgv97n54 1 9232333 9335374 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545356,nsv545357,nsv545360,nsv545361,nsv545354,nsv545355,nsv545353,nsv545349 M 17421 12 0 H6PD,SPSB1 1780854556_A,1780862066_A,1780862577_A,HGDP00136 dgv2e55 1 9238434 9327280 CNV gain Pinto_et_al_2007 17911159 SNP array esv2750843,esv2750844,esv2750846 M 771 9 0 H6PD,SPSB1 BEC_287,BEC_670,SPC_192 esv23318 1 9240393 9243813 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16429 M 40 0 1 H6PD NA12749 dgv40e59 1 9240552 9243650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3335318,esv3394437,esv3446798 M 185 3 0 H6PD NA19238,NA19239,NA19240 nsv545350 1 9240988 9289439 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709657 M 17421 1 0 H6PD,SPSB1 dgv3n27 1 9240988 9334995 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv463172,nsv462839,nsv463061,nsv462950,nsv463950 M 1557 5 0 H6PD,SPSB1 1780854392_A,1780854556_A,1780862066_A,1780862577_A,HGDP00136 nsv520191 1 9243828 9319247 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696393,nssv662674,nssv661584,nssv687341,nssv688630 M 2026 5 0 H6PD,SPSB1 dgv17n100 1 9249233 9332832 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002792,nsv1012017,nsv1004173,nsv1002706,nsv1003940,nsv1013520,nsv1006562,nsv1007996,nsv1001425,nsv1002787,nsv999816 M 29084 39 0 H6PD,SPSB1 esv2750845 1 9250000 9311805 CNV gain Pinto_et_al_2007 17911159 SNP array essv6985406,essv6980777 M 771 2 0 H6PD,SPSB1 BEC_149 esv2201511 1 9292566 9292989 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4737746 M 1 0 1 SPSB1 NA18507 esv1000068 1 9292718 9292718 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571220 M 3 1 0 SPSB1 HuRef nsv464172 1 9300451 9336233 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv540129 M 1557 0 1 SPSB1 1780854065_A nsv545362 1 9300451 9336233 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173664 M 17421 0 1 SPSB1 1780854065_A nsv827253 1 9353942 9354616 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431791 M 31 0 1 "" AK20 esv2616653 1 9361917 9363588 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5231075 M 1 0 1 "" NA18507 esv2203424 1 9362487 9363139 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4643328 M 1 0 1 "" NA18507 nsv1013224 1 9363627 9622355 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3474728 M 29084 1 0 LOC100506022,SLC25A33,TMEM201 esv2443842 1 9393000 9393819 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5170213 M 1 1 0 "" NA18507 esv3367825 1 9393747 9395170 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652101 M 185 1 0 "" NA19240 nsv545363 1 9418158 9600440 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709671 M 17421 0 1 SLC25A33,TMEM201 nsv517755 1 9437433 9462280 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv674995,nssv653129,nssv658552,nssv693425,nssv661666,nssv670279,nssv692200 M 2026 0 7 "" esv3379170 1 9459352 9461150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692431 M 185 1 0 "" NA19239 dgv41e59 1 9460052 9461150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3382125,esv3423918 M 185 2 0 "" NA19238,NA19240 esv2476310 1 9516165 9522726 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5297378 M 1 0 1 SLC25A33 NA18507 esv2577357 1 9517491 9520883 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5368321 M 1 0 1 "" NA18507 esv28451 1 9518760 9520515 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11914,esv15031 M 40 0 5 "" NA18505,NA18907,NA19147,NA19190,NA19257 dgv98n54 1 9518972 9519558 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545364,nsv545368,nsv545365 M 17421 0 25 "" dgv99n54 1 9518972 9520002 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545367,nsv545369,nsv545366 M 17421 0 3 "" dgv100n54 1 9519260 9520472 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545374,nsv545370,nsv545376,nsv545375 M 17421 5 0 "" dgv101n54 1 9519353 9519558 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545371,nsv545372 M 17421 0 6 "" nsv545373 1 9519353 9520315 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709707 M 17421 0 1 "" nsv2076 1 9519805 9554020 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3078 M 9 1 0 SLC25A33 NA18555 nsv545377 1 9519824 9525549 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709712 M 17421 1 0 SLC25A33 nsv945765 1 9556221 9561702 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753475,nssv1754743,nssv1753474,nssv1754785,nssv1753461,nssv1754762,nssv1753491,nssv1754748,nssv1754774,nssv1754759,nssv1753481,nssv1753487,nssv1754771,nssv1753483,nssv1753471,nssv1754781,nssv1754775,nssv1754747,nssv1753477,nssv1754745,nssv1753469,nssv1754763,nssv1753480,nssv1754779,nssv1754778,nssv1754742,nssv1753462,nssv1754788,nssv1753467,nssv1754752,nssv1753470,nssv1754739,nssv1754776,nssv1754767,nssv1753478,nssv1754761,nssv1753472,nssv1754726,nssv1754773,nssv1754730,nssv1753473,nssv1754749,nssv1753488,nssv1754724,nssv1753479,nssv1754751,nssv1753464,nssv1753485,nssv1754770,nssv1754728,nssv1753463,nssv1754732,nssv1754772,nssv1754787,nssv1754769,nssv1754764,nssv1754777,nssv1754729,nssv1753466,nssv1754736,nssv1753465,nssv1754782,nssv1753476,nssv1754731,nssv1753484,nssv1754780,nssv1753489,nssv1754783,nssv1753468,nssv1754754,nssv1753482,nssv1754758,nssv1754741,nssv1753490,nssv1754725,nssv1754760,nssv1753486,nssv1753460,nssv1754746,nssv1754733,nssv1754735,nssv1754755,nssv1754756,nssv1754738,nssv1754766,nssv1754727,nssv1754757,nssv1754768,nssv1754744,nssv1754750,nssv1754737,nssv1754784,nssv1754765,nssv1754786,nssv1754753,nssv1754740,nssv1754734 M 97 10 0 SLC25A33 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv474814 1 9567233 9567233 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018493 M 9 1 0 "" NA18956 nsv2187 1 9589883 9616337 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1500,nssv3119,nssv3334,nssv6883,nssv4948,nssv10282,nssv9906 M 9 7 0 TMEM201 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508847 1 9594782 9661476 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619767,nssv623772,nssv621081 M 4 3 0 C1orf200,PIK3CD,TMEM201 NA10860,NA15510,NA18994 esv1010171 1 9606595 9608107 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565355 M 3 1 0 "" HuRef nsv832203 1 9649219 9782796 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442685 M 95 0 1 CLSTN1,PIK3CD esv3302499 1 9662936 9663152 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7731291,essv7731648,essv7730969 M 185 0 0 PIK3CD NA19238,NA19239,NA19240 esv3377271 1 9662949 9663163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8670923,essv8670925,essv8670924 M 185 3 0 PIK3CD NA19238,NA19239,NA19240 nsv160151 1 9685183 9688695 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178729 M 24 PIK3CD nsv827364 1 9745319 9747784 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431975 M 31 0 1 CLSTN1 NA18972 nsv2298 1 9748873 9780074 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10302 M 9 0 1 CLSTN1 NA18956 dgv11n67 1 9769142 9779958 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv827697,nsv827586,nsv827475 M 31 0 4 CLSTN1 NA18526,NA18564,NA18570,NA18949 nsv498662 1 9769237 9779283 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585382 M 9 0 1 CLSTN1 dgv102n54 1 9769619 9779274 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545378,nsv545379 M 17421 0 2 CLSTN1 nsv545380 1 9840770 9909594 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709715 M 17421 0 1 CTNNBIP1 nsv1001742 1 9894363 10039354 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481106 M 29084 1 0 LZIC,NMNAT1,RBP7,UBE4B esv3336969 1 9995551 9995551 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740981 M 185 1 0 RBP7 NA19240 nsv527217 1 10016044 10179754 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv703617 M 2026 1 0 UBE4B nsv945766 1 10035116 10037816 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754793,nssv1754842,nssv1754872,nssv1754824,nssv1754797,nssv1754862,nssv1754871,nssv1754814,nssv1754798,nssv1754845,nssv1754790,nssv1754856,nssv1754809,nssv1754865,nssv1754811,nssv1754883,nssv1754868,nssv1754861,nssv1754817,nssv1754847,nssv1754873,nssv1754850,nssv1754806,nssv1754881,nssv1754810,nssv1754859,nssv1754875,nssv1754844,nssv1754820,nssv1754843,nssv1754874,nssv1754830,nssv1754804,nssv1754841,nssv1754796,nssv1754880,nssv1754808,nssv1754834,nssv1754800,nssv1754876,nssv1754813,nssv1754857,nssv1754870,nssv1754878,nssv1754803,nssv1754789,nssv1754869,nssv1754885,nssv1754794,nssv1754864,nssv1754867,nssv1754812,nssv1754802,nssv1754860,nssv1754807,nssv1754831,nssv1754866,nssv1754839,nssv1754791,nssv1754882,nssv1754799,nssv1754848,nssv1754818,nssv1754836,nssv1754801,nssv1754849,nssv1754792,nssv1754825,nssv1754795,nssv1754855,nssv1754805,nssv1754846,nssv1754858,nssv1754826,nssv1754877,nssv1754833,nssv1754823,nssv1754828,nssv1754821,nssv1754816,nssv1754884,nssv1754827,nssv1754838,nssv1754837,nssv1754840,nssv1754879,nssv1754822,nssv1754835,nssv1754852,nssv1754815,nssv1754832,nssv1754851,nssv1754854,nssv1754863,nssv1754829,nssv1754819,nssv1754853 M 97 10 0 UBE4B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv522629 1 10048352 10161784 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv706027 M 2026 1 0 UBE4B nsv525216 1 10118527 10123161 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv701302 M 2026 1 0 UBE4B esv2562286 1 10152982 10154339 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5304967 M 1 0 1 UBE4B NA18507 esv2758920 1 10160657 10505141 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757722 M 270 1 2 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,PEX14,PGD,UBE4B NA18912,NA18965,NA19130 nsv512718 1 10170195 10170662 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625342 M 1 1 0 "" 1 nsv545381 1 10219039 10346575 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709716 M 17421 1 0 KIF1B nsv545382 1 10231613 10299808 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709718,nssv709717 M 17421 0 2 KIF1B nsv477279 1 10254717 10254717 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017679 M 9 1 0 KIF1B NA18517 esv4531 1 10257291 10257519 CNV loss Wang_et_al_2008 18987735 Sequencing essv26972 M 1 0 1 KIF1B YH esv2550823 1 10274566 10275850 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5364930 M 1 0 1 KIF1B NA18507 nsv2409 1 10288677 10310823 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3425 M 9 1 0 KIF1B NA12878 dgv1n17 1 10289074 10310291 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nsv437200,nsv437201 M 60 0 2 KIF1B NA18500,NA18914 nsv1003027 1 10289919 10300558 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468399 M 29084 0 1 KIF1B nsv436146 1 10291453 10301596 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466361 M 2 0 1 KIF1B NA18505 nsv8102 1 10291557 10301433 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv26900,nssv26885,nssv24611 M 31 0 3 KIF1B NA18502,NA18853,NA19132 esv23835 1 10292005 10301472 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12065 M 40 0 4 KIF1B NA18502,NA18505,NA18508,NA18861 esv2421759 1 10292133 10300570 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5037021,essv5030658,essv5011913,essv5131012,essv5146221,essv5072375,essv5053735,essv5071040,essv5077233,essv5095610,essv5075248,essv5059809,essv5104647,essv5033654,essv5093833,essv5031784,essv5089301,essv5014103,essv5029372,essv5012723,essv5028433,essv5032695,essv5100113,essv5109789,essv5031808,essv5142692,essv5118117,essv5145720,essv5062374,essv5045696,essv5151358,essv5158917,essv5005447,essv5098414,essv5081479,essv5060455,essv5155081,essv5066898,essv5124066,essv5011379,essv5117819,essv5033256,essv5073299,essv5131248,essv5087410,essv5110636,essv5049783,essv5054475,essv5062929,essv5048097,essv5131639,essv5145827,essv5074473,essv5107159,essv5064063,essv5084373,essv5141223,essv5103254,essv5013970 M 1184 0 59 KIF1B NA18497,NA18499,NA18500,NA18501,NA18505,NA18506,NA18508,NA18510,NA18853,NA18854,NA18861,NA18863,NA18867,NA18868,NA18869,NA18912,NA18913,NA18914,NA18933,NA18935,NA19118,NA19130,NA19132,NA19176,NA19179,NA19180,NA19184,NA19185,NA19186,NA19192,NA19198,NA19207,NA19213,NA19215,NA19235,NA19237,NA19238,NA19248,NA19249,NA19314,NA19359,NA19374,NA19434,NA19444,NA19452,NA19664,NA19703,NA19705,NA19819,NA20294,NA20295,NA20297,NA20322,NA20348,NA21300,NA21418,NA21441,NA21520,NA21613 nsv515546 1 10292899 10296090 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv656381,nssv695737,nssv667133,nssv690059,nssv686246,nssv667908,nssv663872,nssv660763,nssv666539,nssv658813,nssv691095,nssv679262,nssv657555,nssv658241,nssv654559,nssv671141,nssv680418,nssv680299,nssv682975,nssv656820,nssv676915,nssv690144,nssv687648 M 2026 0 23 KIF1B nsv545383 1 10292899 10296090 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173665 M 17421 0 1 KIF1B HGDP00923 nsv818666 1 10292899 10296090 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417808,nssv1418422,nssv1417809,nssv1416820 M 112 0 4 KIF1B NA18853,NA18854,NA19192,NA19238 nsv545384 1 10292899 10299808 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709719 M 17421 0 1 KIF1B nsv1011917 1 10292977 10304901 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471935 M 29084 0 1 KIF1B esv2764182 1 10292989 10300570 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004953,essv7004947,essv7004945,essv7004957,essv7004942,essv7004949,essv7004946,essv7004956,essv7004943,essv7004954,essv7004948,essv7004951,essv7004952,essv7004958,essv7004950 M 1109 0 15 KIF1B RW_0014,RW_0028,RW_0155,RW_0178,RW_0201,RW_0220,RW_0258,RW_0266,RW_0306,RW_0329,RW_0538,RW_0576,RW_0616,RW_0653,RW_0660 nsv441678 1 10293128 10300570 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617791,nssv1617858,nssv1617869,nssv1617880,nssv1617780,nssv1617891,nssv1617747,nssv1617713,nssv1617736,nssv1617847,nssv1617902,nssv1617758,nssv1617813,nssv1617836,nssv1617725,nssv1617802,nssv1617769,nssv1617824 M 270 0 18 KIF1B NA18500,NA18501,NA18502,NA18505,NA18506,NA18508,NA18853,NA18854,NA18861,NA18863,NA18912,NA18913,NA18914,NA19130,NA19132,NA19192,NA19207,NA19238 nsv513981 1 10293441 10300549 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2845140,nssv2845153,nssv2845148,nssv2845157,nssv2843660,nssv2845137,nssv2845149,nssv2845145,nssv2845141,nssv2845138,nssv2845150,nssv2845156,nssv2845167,nssv2845142,nssv2845144,nssv2845154,nssv2845161,nssv2845158,nssv2845143,nssv2845155,nssv2845160,nssv2845166,nssv2845162,nssv2845151,nssv2843659,nssv2845159,nssv2845163,nssv2845165,nssv2845139,nssv2845146,nssv2845164,nssv2845152,nssv2845147 M 2366 0 33 KIF1B NA18497,NA18499,NA18500,NA18501,NA18506,NA18508,NA18510,NA18853,NA18854,NA18861,NA18863,NA18867,NA18868,NA18869,NA18908,NA18933,NA18935,NA19118,NA19130,NA19132,NA19179,NA19180,NA19184,NA19185,NA19186,NA19192,NA19198,NA19207,NA19235,NA19237,NA19248,NA19249,NA21441 nsv437970 1 10297766 10301003 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv468185,nssv471534,nssv467741,nssv468074,nssv467852,nssv467963 M 269 0 6 KIF1B NA18500,NA18502,NA18912,NA18914,NA19130,NA19132 esv2764192 1 10306321 10516773 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7004959,essv7004960 M 1109 2 0 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,PEX14,PGD RW_0575,RW_0621 nsv8213 1 10373501 10383026 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv28055 M 31 1 0 PGD NA19221 esv1010529 1 10398782 10401173 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564483 M 3 0 1 PGD HuRef nsv8324 1 10404184 10407232 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv21428,nssv11773,nssv24608,nssv28037,nssv24609,nssv26887,nssv28548,nssv29251,nssv28046,nssv28052,nssv26889,nssv24615,nssv24596,nssv26893,nssv26875,nssv12119,nssv28538,nssv21445,nssv29270,nssv24601 M 31 0 20 "" NA07029,NA10839,NA10847,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19132,NA19173 nsv511676 1 10404830 10406384 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626314 M 1 0 1 "" 1 esv7749 1 10404835 10406590 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30190 M 1 0 0 "" dgv12n67 1 10404929 10406229 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv827808,nsv827919 M 31 0 11 "" AK12,AK16,AK20,AK4,NA18526,NA18552,NA18564,NA18951,NA18968,NA18972,NA18997 esv3677 1 10405039 10406535 CNV loss Wang_et_al_2008 18987735 Sequencing essv26118 M 1 0 1 "" YH nsv160262 1 10405068 10406366 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178840 M 24 "" esv26404 1 10405137 10406094 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14503 M 40 0 7 "" NA07037,NA12004,NA12749,NA15510,NA18517,NA18909,NA19129 dgv103n54 1 10405170 10405754 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545388,nsv545386,nsv545385,nsv545390 M 17421 4 0 "" dgv104n54 1 10405170 10406043 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545387,nsv545391,nsv545392,nsv545389 M 17421 0 188 "" nsv545393 1 10405588 10406043 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709912 M 17421 0 1 "" nsv545394 1 10405748 10406043 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709918,nssv709914,nssv709913,nssv709915,nssv709916,nssv709917,nssv709919,nssv709920 M 17421 0 8 "" esv2421360 1 10466423 10467633 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5057594,essv5122639,essv5125662,essv5087529,essv5151994,essv5111430,essv5118967,essv5148686,essv5079670,essv5061676,essv5023863,essv5010570,essv5072629,essv5120264,essv5154504,essv5088559,essv5142946,essv5115009,essv5005178,essv5099736,essv5160849,essv5138311,essv5145841,essv5074992,essv5030172,essv5151853,essv5160550,essv5102680,essv5094667,essv5043282,essv5037011 M 1184 0 31 PEX14 NA07045,NA18497,NA18499,NA18870,NA18917,NA18930,NA19010,NA19041,NA19098,NA19138,NA19178,NA19180,NA19192,NA19194,NA19347,NA19399,NA19713,NA19983,NA20288,NA21295,NA21333,NA21339,NA21356,NA21390,NA21399,NA21401,NA21418,NA21436,NA21634,NA21636,NA21682 nsv2521 1 10476117 10520758 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7460 M 9 0 1 PEX14 NA12156 nsv8435 1 10490771 10494961 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24613 M 31 1 0 PEX14 NA18942 nsv545395 1 10507259 10536247 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709921 M 17421 0 1 PEX14 nsv1015079 1 10533990 10567763 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478770 M 29084 0 1 PEX14 nsv1009596 1 10548836 10575192 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3697890 M 29084 0 1 PEX14 nsv517464 1 10561191 10565784 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv679135,nssv681545,nssv652091,nssv683372,nssv685750,nssv693755 M 2026 0 6 PEX14 nsv818777 1 10561191 10565784 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417173 M 112 0 1 PEX14 NA18550 esv275132 1 10578911 10580499 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2586077 M 1250 0 1 PEX14 dgv105n54 1 10595681 10719453 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545399,nsv545398,nsv545396,nsv545402,nsv545397 M 17421 0 5 CASZ1,PEX14 1780862093_A,1780862573_A dgv4n27 1 10595781 10719453 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv464505,nsv465061 M 1557 0 2 CASZ1,PEX14 1780862093_A,1780862573_A esv29966 1 10599387 10796739 CNV loss Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv84205 M 2 0 1 CASZ1,PEX14 HuRef nsv828030 1 10600149 10717748 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436327 M 31 1 0 CASZ1,PEX14 NA18542 nsv545400 1 10606685 10764608 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709925 M 17421 0 1 CASZ1,PEX14 nsv464949 1 10613535 10679786 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv540805 M 1557 0 1 CASZ1 1780862345_A nsv545401 1 10613535 10679786 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173667 M 17421 0 1 CASZ1 1780862345_A nsv525693 1 10616712 10763492 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701852 M 2026 0 1 CASZ1 nsv828141 1 10618064 10626784 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423940 M 31 1 0 CASZ1 NA18947 nsv828252 1 10620397 10625621 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433409 M 31 1 0 CASZ1 NA18526 nsv828364 1 10620397 10686751 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440798 M 31 1 0 CASZ1 NA18969 nsv436924 1 10627275 10654856 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv466805 M 60 0 1 CASZ1 NA10847 nsv832314 1 10627398 10782506 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442696,nssv1442718,nssv1442707 M 95 0 3 CASZ1 nsv438081 1 10628678 10640184 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv468296,nssv468407 M 269 0 2 CASZ1 NA10847,NA12146 nsv545403 1 10632028 10673019 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709926 M 17421 0 1 CASZ1 nsv508858 1 10633211 10735797 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619768 M 4 1 0 CASZ1 NA10860 nsv818888 1 10642232 10673019 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417515 M 112 0 1 CASZ1 NA18968 dgv42e59 1 10643852 10645650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3385957,esv3442563,esv3359154 M 185 3 0 CASZ1 NA19238,NA19239,NA19240 esv997282 1 10654369 10668236 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564310 M 3 0 1 CASZ1 HuRef esv2758921 1 10665089 10977734 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757723 M 270 0 12 C1orf127,CASZ1 NA10846,NA10857,NA12234,NA12248,NA18504,NA18558,NA18563,NA18570,NA18854,NA18970,NA18987,NA19143 nsv8546 1 10675514 10679354 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv28027,nssv28926 M 31 2 0 CASZ1 NA07029,NA12740 nsv465172 1 10679786 10719453 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541028 M 1557 0 1 CASZ1 1780862416_A nsv545404 1 10679786 10719453 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173669 M 17421 0 1 CASZ1 1780862416_A nsv465283 1 10690489 10738008 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541114 M 1557 0 1 CASZ1 NINDS_198 nsv545405 1 10690489 10738008 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173670 M 17421 0 1 CASZ1 NINDS_198 esv3435817 1 10759052 10761350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691738 M 185 1 0 CASZ1 NA19240 esv3443222 1 10760052 10761350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691739 M 185 1 0 CASZ1 NA19238 nsv159406 1 10767813 10767813 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv177984 M 24 CASZ1 nsv832425 1 10826432 11045562 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442741,nssv1442729 M 95 0 2 C1orf127,MASP2,SRM,TARDBP dgv43e59 1 10835252 10836850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3401813,esv3379915 M 185 2 0 "" NA19239,NA19240 esv2418090 1 10835960 10836423 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4522724 M 1 0 1 "" NA18507 nsv545406 1 10838094 10857819 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709927 M 17421 0 1 "" esv27036 1 10874013 10874782 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19765 M 40 0 1 "" NA19147 nsv516264 1 10906538 10907149 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv655703,nssv680546,nssv662101,nssv676652,nssv688415,nssv667169,nssv693249,nssv683701 M 2026 0 8 "" esv2576089 1 10915938 10916329 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5340923 M 1 0 1 "" NA18507 nsv508869 1 10938844 10991103 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621082 M 4 1 0 C1orf127 NA15510 esv3350549 1 10953467 10954081 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808880 M 185 1 0 C1orf127 NA12878 esv1628805 1 10965819 10966556 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3981893 M 2 0 1 "" HuRef esv3450829 1 10973952 10976550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691745 M 185 1 0 "" NA12878 esv2592186 1 10982291 10985877 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5335168 M 1 0 1 "" NA18507 nsv545407 1 10982662 11360613 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709928 M 17421 1 0 ANGPTL7,EXOSC10,MASP2,MTOR,MTOR-AS1,SRM,TARDBP,UBIAD1 esv23739 1 10982754 10984494 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14228 M 40 0 1 "" NA19190 nsv945768 1 11004801 11006712 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754931,nssv1754954,nssv1754925,nssv1751922,nssv1754914,nssv1754941,nssv1754981,nssv1754944,nssv1754909,nssv1754952,nssv1754921,nssv1754958,nssv1754932,nssv1754946,nssv1754918,nssv1754948,nssv1754923,nssv1754949,nssv1754904,nssv1754967,nssv1751910,nssv1754977,nssv1754982,nssv1754968,nssv1754906,nssv1754929,nssv1754924,nssv1754965,nssv1754920,nssv1754959,nssv1754910,nssv1754961,nssv1754980,nssv1754971,nssv1754912,nssv1754933,nssv1751909,nssv1754936,nssv1754922,nssv1754938,nssv1754927,nssv1754942,nssv1754907,nssv1754976,nssv1751908,nssv1754970,nssv1754908,nssv1751913,nssv1751905,nssv1754975,nssv1754983,nssv1754928,nssv1754911,nssv1754957,nssv1754917,nssv1754963,nssv1751906,nssv1754956,nssv1754905,nssv1754951,nssv1754934,nssv1754945,nssv1754916,nssv1754966,nssv1751911,nssv1754964,nssv1754913,nssv1751920,nssv1754915,nssv1751915,nssv1754919,nssv1754953,nssv1751912,nssv1751914,nssv1754926,nssv1754973,nssv1754978,nssv1754969,nssv1754955,nssv1754939,nssv1751916,nssv1754940,nssv1754962,nssv1754947,nssv1754943,nssv1754930,nssv1754960,nssv1754979,nssv1751919,nssv1754903,nssv1754974,nssv1751921,nssv1751917,nssv1754935,nssv1754950,nssv1754972,nssv1754937 M 97 10 0 TARDBP HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv25881 1 11020149 11028638 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv13377,esv21307 M 40 2 1 MASP2 NA06985,NA12044,NA19257 nsv545408 1 11022017 11024731 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709929 M 17421 1 0 MASP2 dgv106n54 1 11022420 11024569 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545409,nsv545410 M 17421 0 2 MASP2 nsv545411 1 11022759 11024569 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709932 M 17421 1 0 MASP2 nsv474577 1 11040944 11040944 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012643 M 9 1 0 SRM NA18956 esv3303581 1 11134972 11134973 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7743300,essv7754450,essv7741490 M 185 3 0 MTOR NA18871,NA18916,NA19005 esv3427172 1 11134991 11135107 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898624,essv8898626,essv8898623 M 185 3 0 MTOR NA18871,NA18916,NA19005 nsv945769 1 11214781 11216436 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751945,nssv1752951,nssv1751931,nssv1752919,nssv1751924,nssv1752889,nssv1751939,nssv1752904,nssv1751947,nssv1751948,nssv1752940,nssv1752880,nssv1752938,nssv1752915,nssv1752935,nssv1752906,nssv1751930,nssv1752907,nssv1751936,nssv1752888,nssv1751941,nssv1752924,nssv1752881,nssv1752892,nssv1751927,nssv1752916,nssv1752934,nssv1752948,nssv1751926,nssv1752930,nssv1752936,nssv1752900,nssv1751944,nssv1752890,nssv1751925,nssv1752893,nssv1751928,nssv1752926,nssv1751937,nssv1752932,nssv1751949,nssv1752885,nssv1751934,nssv1752897,nssv1752941,nssv1752928,nssv1751946,nssv1752952,nssv1752879,nssv1752921,nssv1751938,nssv1752908,nssv1751935,nssv1752944,nssv1752933,nssv1752913,nssv1752937,nssv1752891,nssv1751932,nssv1752912,nssv1752943,nssv1752946,nssv1751933,nssv1752929,nssv1752878,nssv1752895,nssv1752939,nssv1752925,nssv1751942,nssv1752911,nssv1751943,nssv1752927,nssv1752922,nssv1751923,nssv1752899,nssv1752882,nssv1752905,nssv1752903,nssv1752954,nssv1752883,nssv1752876,nssv1752914,nssv1752896,nssv1752947,nssv1752901,nssv1752949,nssv1752884,nssv1752877,nssv1752923,nssv1752950,nssv1752918,nssv1752945,nssv1752910,nssv1752917,nssv1752902,nssv1752894,nssv1751950 M 97 10 0 MTOR HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv474152 1 11231910 11231910 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019622 M 9 1 0 MTOR NA18507 nsv516050 1 11295225 11320952 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700989,nssv665889,nssv701963,nssv683456 M 2026 0 4 "" nsv832536 1 11311364 11484928 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442752 M 95 0 1 PTCHD2 esv3331891 1 11345882 11345892 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863674 M 185 1 0 "" NA12005 esv3329848 1 11356100 11357118 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652037 M 185 1 0 "" NA19240 nsv1002307 1 11388054 11450142 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481323 M 29084 1 0 "" nsv465394 1 11416419 11443240 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541193 M 1557 0 1 "" 1780854097_A nsv545412 1 11416419 11443240 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173671 M 17421 0 1 "" 1780854097_A nsv528438 1 11419581 11424018 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705033 M 2026 0 1 "" nsv2632 1 11459664 11490439 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv298 M 9 1 0 PTCHD2 NA19240 nsv832647 1 11484934 11592183 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442763 M 95 0 1 LOC101929181,PTCHD2 nsv465505 1 11485077 11523706 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541299 M 1557 0 1 PTCHD2 HGDP00857 nsv545413 1 11485077 11523706 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173672 M 17421 0 1 PTCHD2 HGDP00857 dgv107n54 1 11485077 11549445 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545414,nsv545415 M 17421 0 3 PTCHD2 HGDP00787 nsv465727 1 11485077 11549445 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541477 M 1557 0 1 PTCHD2 HGDP00787 nsv470692 1 11497847 11545566 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547697 M 443 1 0 PTCHD2 HGDP00599 nsv521736 1 11500418 11517918 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694500 M 2026 0 1 PTCHD2 esv2628262 1 11504990 11505756 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5205183 M 1 1 0 PTCHD2 NA18507 esv3380219 1 11505035 11505587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808884 M 185 1 0 PTCHD2 NA12878 esv26916 1 11505139 11505609 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13120 M 40 0 1 PTCHD2 NA07045 dgv18n100 1 11509172 11553015 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008090,nsv999027,nsv1006388,nsv1010644,nsv1000208 M 29084 5 0 PTCHD2 esv3337006 1 11522411 11522430 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678328 M 185 1 0 "" NA12878 esv3309193 1 11522420 11522421 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7839434 M 185 1 0 "" NA12878 nsv520251 1 11536855 11549445 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697308 M 2026 0 1 "" nsv545416 1 11602870 11658997 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709935 M 17421 0 1 FBXO2,FBXO44,FBXO6,MAD2L2 esv7758 1 11605249 11605898 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30199 M 1 0 0 "" esv2570682 1 11605279 11606978 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5218562 M 1 0 1 "" NA18507 esv2017403 1 11605301 11605956 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4788047 M 1 0 1 "" NA18507 esv3208 1 11605423 11605899 CNV loss Wang_et_al_2008 18987735 Sequencing essv25649 M 1 0 1 "" YH nsv832758 1 11619670 11759731 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442774 M 95 0 1 AGTRAP,DRAXIN,FBXO2,FBXO44,FBXO6,MAD2L2 nsv515826 1 11633148 11636150 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv664907,nssv674188,nssv666865,nssv655395,nssv673329,nssv682277,nssv660113,nssv682473,nssv685412,nssv681520,nssv679392,nssv683681,nssv693798 M 2026 0 13 FBXO2 nsv545417 1 11633148 11644203 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709936 M 17421 0 1 FBXO2,FBXO44 nsv521468 1 11636150 11639887 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694449 M 2026 0 1 FBXO2,FBXO44 nsv508880 1 11704027 11753907 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619769 M 4 1 0 AGTRAP NA10860 nsv545418 1 11725873 11732113 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709937 M 17421 0 1 AGTRAP nsv545419 1 11730202 11733860 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709938 M 17421 1 0 AGTRAP nsv545420 1 11730557 11733870 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709939 M 17421 0 1 AGTRAP nsv545421 1 11731293 11733261 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709940 M 17421 0 1 AGTRAP dgv108n54 1 11732002 11733860 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545422,nsv545423 M 17421 0 2 AGTRAP nsv518652 1 11780298 11785365 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696101 M 2026 0 1 MTHFR esv2280942 1 11812152 11812473 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4641147 M 1 0 1 CLCN6 NA18507 nsv527521 1 11823412 11832101 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703975 M 2026 0 1 CLCN6,NPPA,NPPA-AS1 nsv517385 1 11851417 11851482 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv653897,nssv669294,nssv681416,nssv656721,nssv652751,nssv673526,nssv690321 M 2026 0 7 "" nsv828475 1 11912209 11915865 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423944 M 31 0 1 "" NA18582 esv22435 1 11912455 11916071 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16673 M 40 0 1 "" NA12414 dgv109n54 1 11913354 11915713 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545425,nsv545424,nsv545426 M 17421 0 4 "" nsv545427 1 11942999 11948942 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709947 M 17421 0 1 PLOD1 dgv110n54 1 11948942 11954069 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545428,nsv545429 M 17421 0 2 PLOD1 nsv545430 1 11953034 11954069 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709950 M 17421 1 0 PLOD1 dgv111n54 1 11953346 11954069 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545431,nsv545432 M 17421 0 3 PLOD1 esv27905 1 11953358 11954096 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17941 M 40 1 0 PLOD1 NA12156 nsv545433 1 11953448 11954069 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709961,nssv709960,nssv709959,nssv709955,nssv709954,nssv709956,nssv709958,nssv709957 M 17421 8 0 PLOD1 nsv545434 1 11953500 11954069 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709996,nssv709962,nssv709964,nssv709963,nssv709995,nssv709966,nssv709970,nssv709965,nssv709969,nssv709968,nssv709967,nssv709971,nssv709979,nssv709972,nssv709978,nssv709973,nssv709974,nssv709977,nssv709976,nssv709975,nssv709981,nssv709980,nssv709983,nssv709982,nssv709985,nssv709984,nssv709988,nssv709987,nssv709986,nssv709994,nssv709991,nssv709992,nssv709990,nssv709989,nssv709993,nssv709997,nssv710003,nssv709998,nssv710002,nssv710000,nssv709999,nssv710001,nssv710005,nssv710009,nssv710004,nssv710006,nssv710008,nssv710007,nssv710011,nssv710010 M 17421 46 4 PLOD1 nsv545435 1 11953500 11954617 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710013,nssv710012,nssv710014 M 17421 3 0 PLOD1 nsv470693 1 11973221 12038278 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547698 M 443 0 1 MFN2,MIIP,MIR6729 HGDP00556 nsv945771 1 11975111 11976839 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753019,nssv1753034,nssv1753047,nssv1752977,nssv1753016,nssv1752956,nssv1753025,nssv1752958,nssv1753006,nssv1752969,nssv1753046,nssv1752973,nssv1753021,nssv1752974,nssv1752996,nssv1752984,nssv1753011,nssv1753041,nssv1753001,nssv1752962,nssv1753049,nssv1753036,nssv1753017,nssv1752971,nssv1752999,nssv1752975,nssv1752993,nssv1753037,nssv1753013,nssv1752957,nssv1752986,nssv1753042,nssv1753022,nssv1752987,nssv1753009,nssv1753035,nssv1752955,nssv1752968,nssv1753051,nssv1752961,nssv1752990,nssv1752965,nssv1752997,nssv1752976,nssv1753005,nssv1753039,nssv1753000,nssv1753043,nssv1753045,nssv1752985,nssv1753048,nssv1752970,nssv1753032,nssv1753038,nssv1753008,nssv1752980,nssv1753044,nssv1752978,nssv1753027,nssv1752960,nssv1752998,nssv1752972,nssv1753018,nssv1752963,nssv1753026,nssv1752959,nssv1753028,nssv1752967,nssv1753010,nssv1752966,nssv1753007,nssv1753040,nssv1752994,nssv1752991,nssv1753015,nssv1753004,nssv1753020,nssv1753024,nssv1753033,nssv1753052,nssv1753031,nssv1753053,nssv1752992,nssv1752983,nssv1753030,nssv1752981,nssv1753023,nssv1752982,nssv1752988,nssv1752979,nssv1752989,nssv1753050,nssv1753029,nssv1753014,nssv1753012,nssv1753002,nssv1753003 M 97 10 0 MFN2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3361336 1 11988844 11988895 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898628,essv8898627,essv8898629 M 185 3 0 MFN2 NA18592,NA18593,NA18948 esv3304719 1 11988858 11988859 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7759312,essv7750861,essv7757876 M 185 3 0 MFN2 NA18592,NA18593,NA18948 nsv469830 1 12022313 12182502 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1674860 M 265 0 1 MIR4632,MIR7846,TNFRSF1B,TNFRSF8 esv6101 1 12045052 12045597 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28542 M 1 0 0 "" nsv466060 1 12052638 12064048 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541698 M 1557 0 1 TNFRSF8 1780862021_A nsv545436 1 12052638 12064048 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173674 M 17421 0 1 TNFRSF8 1780862021_A nsv945772 1 12062180 12063847 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753060,nssv1753151,nssv1753055,nssv1753129,nssv1753075,nssv1753105,nssv1753071,nssv1753080,nssv1753067,nssv1753081,nssv1753056,nssv1753144,nssv1753139,nssv1753092,nssv1753072,nssv1753125,nssv1753137,nssv1753131,nssv1753061,nssv1753120,nssv1753073,nssv1753107,nssv1753133,nssv1753128,nssv1753135,nssv1753123,nssv1753141,nssv1753101,nssv1753136,nssv1753104,nssv1753132,nssv1753112,nssv1753082,nssv1753086,nssv1753064,nssv1753098,nssv1753069,nssv1753145,nssv1753057,nssv1753114,nssv1753134,nssv1753118,nssv1753063,nssv1753099,nssv1753083,nssv1753148,nssv1753068,nssv1753117,nssv1753140,nssv1753143,nssv1753059,nssv1753147,nssv1753076,nssv1753115,nssv1753078,nssv1753077,nssv1753074,nssv1753149,nssv1753070,nssv1753127,nssv1753066,nssv1753087,nssv1753085,nssv1753119,nssv1753062,nssv1753130,nssv1753058,nssv1753106,nssv1753065,nssv1753084,nssv1753138,nssv1753054,nssv1753111,nssv1753097,nssv1753093,nssv1753109,nssv1753088,nssv1753091,nssv1753146,nssv1753110,nssv1753142,nssv1753079,nssv1753094,nssv1753122,nssv1753124,nssv1753108,nssv1753102,nssv1753113,nssv1753095,nssv1753150,nssv1753100,nssv1753103,nssv1753116,nssv1753090,nssv1753126,nssv1753089,nssv1753121 M 97 10 0 TNFRSF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv525898 1 12064048 12091110 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702102 M 2026 0 1 TNFRSF8 esv3350116 1 12065621 12065632 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863676 M 185 1 0 TNFRSF8 NA12005 esv1290308 1 12072780 12072878 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4317882 M 2 0 1 TNFRSF8 HuRef nsv508891 1 12080564 12217689 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619770 M 4 1 0 MIR4632,MIR7846,TNFRSF1B,TNFRSF8,VPS13D NA10860 nsv476183 1 12103897 12103897 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013757 M 9 1 0 TNFRSF8 NA12878 esv3584475 1 12117038 12200251 CNV gain Mokhtar_et_al_2014 24956385 SNP array essv9838752 M 34 1 0 MIR4632,MIR7846,TNFRSF1B,TNFRSF8 2RB nsv945773 1 12118775 12120085 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753155,nssv1753175,nssv1754159,nssv1754139,nssv1754163,nssv1754165,nssv1754156,nssv1754144,nssv1753153,nssv1754141,nssv1753173,nssv1754123,nssv1753161,nssv1754172,nssv1753164,nssv1754119,nssv1753169,nssv1754113,nssv1753165,nssv1754128,nssv1753170,nssv1754135,nssv1753180,nssv1754131,nssv1753159,nssv1753177,nssv1754154,nssv1754151,nssv1753171,nssv1754125,nssv1754155,nssv1754132,nssv1754161,nssv1754153,nssv1754157,nssv1754173,nssv1754162,nssv1754137,nssv1753158,nssv1754120,nssv1753181,nssv1754116,nssv1753167,nssv1754112,nssv1754160,nssv1754166,nssv1753154,nssv1754150,nssv1753166,nssv1754142,nssv1753157,nssv1754115,nssv1753176,nssv1753179,nssv1753174,nssv1754110,nssv1753163,nssv1754138,nssv1753168,nssv1754114,nssv1753172,nssv1753178,nssv1753183,nssv1754149,nssv1753162,nssv1754127,nssv1754158,nssv1754167,nssv1753160,nssv1754129,nssv1753156,nssv1754152,nssv1754130,nssv1754117,nssv1754133,nssv1754136,nssv1754143,nssv1754118,nssv1754124,nssv1754145,nssv1754109,nssv1754140,nssv1754169,nssv1754134,nssv1754147,nssv1754171,nssv1754168,nssv1754146,nssv1754170,nssv1754122,nssv1753182,nssv1754126,nssv1753152,nssv1754164,nssv1754108,nssv1754111,nssv1754148 M 97 10 0 TNFRSF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3439333 1 12121593 12121593 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8824952 M 185 1 0 TNFRSF8 NA19240 nsv820293 1 12126165 12126349 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419048 M 2 0 1 TNFRSF8 AK1 nsv471622 1 12137851 12354230 CNV gain+loss Sharp_et_al_2005 15918152 BAC aCGH,FISH nssv550330,nssv550337,nssv550318,nssv550323,nssv550321,nssv550328,nssv550341,nssv550335,nssv550339,nssv550319,nssv550324,nssv550343,nssv550338,nssv550320,nssv550331,nssv550325,nssv550334,nssv550342,nssv550340,nssv550326,nssv550332,nssv550329,nssv550333,nssv550327,nssv550322,nssv550336 M 48 1 25 MIR4632,MIR7846,TNFRSF1B,VPS13D NA10492,NA10494,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15730,NA15732,NA15733,NA16688,NA17014,NA17015,NA17017,NA17020,NA17051,NA17052,NA17059,P86GA nsv527024 1 12146826 12189852 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703399 M 2026 0 1 MIR4632,MIR7846,TNFRSF1B nsv545437 1 12163411 12166845 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710015 M 17421 0 1 TNFRSF1B dgv112n54 1 12165346 12168762 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545439,nsv545438 M 17421 0 4 TNFRSF1B dgv113n54 1 12166845 12171607 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545440,nsv545441 M 17421 0 2 TNFRSF1B esv275384 1 12276894 12279663 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585374 M 1250 0 1 VPS13D nsv517848 1 12296335 12564830 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv695253 M 2026 1 0 DHRS3,MIR6730,SNORA59A,SNORA59B,VPS13D nsv2743 1 12315193 12360087 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7522 M 9 0 1 VPS13D NA12156 nsv2854 1 12393279 12438696 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6975 M 9 0 1 VPS13D NA12156 nsv528439 1 12425014 12429547 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705034 M 2026 0 1 VPS13D nsv817617 1 12431530 12456055 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417810 M 112 0 1 VPS13D NA18853 esv2758922 1 12521755 13749642 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757724,esv2756835 M 270 34 25 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,HNRNPCP5,LOC649330,LRRC38,MIR6730,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07000,NA07345,NA07348,NA10831,NA10838,NA10847,NA10851,NA10854,NA10857,NA12004,NA12044,NA12057,NA12239,NA12249,NA12717,NA12752,NA12753,NA12761,NA12762,NA12763,NA12873,NA12874,NA18515,NA18532,NA18552,NA18593,NA18609,NA18611,NA18622,NA18624,NA18861,NA18863,NA18949,NA18951,NA18953,NA18961,NA18965,NA18967,NA18969,NA18970,NA18981,NA18990,NA18991,NA18995,NA18997,NA19007,NA19092,NA19094,NA19103,NA19119,NA19120,NA19127,NA19129,NA19154,NA19159,NA19161,NA19171,NA19173 nsv521737 1 12522009 12607424 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694501 M 2026 0 1 DHRS3,MIR6730 nsv466172 1 12547688 12592983 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541787 M 1557 0 1 DHRS3,MIR6730 NINDS_71 nsv545442 1 12547688 12592983 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173675 M 17421 0 1 DHRS3,MIR6730 NINDS_71 nsv466283 1 12547688 12607424 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541870 M 1557 1 0 DHRS3,MIR6730 HGDP00259 nsv545443 1 12547688 12607424 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173676 M 17421 1 0 DHRS3,MIR6730 HGDP00259 esv3310510 1 12548197 12548208 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843569 M 185 1 0 "" NA19240 esv3379200 1 12548198 12548208 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740934 M 185 1 0 "" NA19240 nsv1011540 1 12584222 12814884 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472793 M 29084 0 1 AADACL3,AADACL4,C1orf158,DHRS3,PRAMEF1,PRAMEF11,PRAMEF12 nsv475178 1 12587987 12587987 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011930 M 9 1 0 DHRS3 NA19240 nsv475134 1 12588043 12588043 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019533 M 9 1 0 DHRS3 NA19240 nsv428410 1 12596978 13667714 CNV gain+loss Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv454165,nssv454176,nssv453130,nssv454232,nssv454243,nssv454154,nssv454221 M 62 6 1 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 HGDP00450,HGDP00462,HGDP00463,HGDP00473,NA18916,NA19096,NA19189 nsv515525 1 12641798 12645771 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv663825,nssv687835,nssv655876,nssv691346 M 2026 0 4 AADACL4 nsv8657 1 12665734 12670547 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv28045,nssv12449 M 31 0 2 "" NA18853,NA19173 esv1936135 1 12665880 12669324 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4851711 M 1 0 1 "" NA18507 esv3302784 1 12669288 12674642 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7737228,essv7733193,essv7734122,essv7732052 M 185 0 0 "" NA18498,NA18507,NA18522,NA18853 nsv545444 1 12670458 12710219 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710022 M 17421 0 1 AADACL3 nsv999658 1 12691549 12781988 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3462862 M 29084 1 0 AADACL3,C1orf158,PRAMEF1,PRAMEF12 nsv466394 1 12697586 12836483 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541946 M 1557 1 0 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00153 nsv545445 1 12697586 12836483 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173677 M 17421 1 0 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00153 nsv1000876 1 12729359 12768438 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464831 M 29084 1 0 C1orf158,PRAMEF12 dgv19n100 1 12729359 12784912 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005569,nsv1008869,nsv1001619,nsv1000875 M 29084 0 6 C1orf158,PRAMEF1,PRAMEF12 nsv832869 1 12730060 12941777 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442796,nssv1442785 M 95 1 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv470695 1 12743457 12836482 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547699,nssv547702,nssv547703,nssv547700 M 443 0 4 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00694,HGDP00702,HGDP00988,HGDP01366 nsv528703 1 12743457 12836483 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705350 M 2026 0 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 esv993047 1 12744887 12745098 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566471 M 3 0 1 "" HuRef dgv114n54 1 12746810 12834675 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545448,nsv545446 M 17421 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1798860570_A nsv998321 1 12754068 13081658 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478915 M 29084 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 dgv115n54 1 12756840 12805718 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545447,nsv545453 M 17421 0 3 PRAMEF1,PRAMEF12 dgv5n27 1 12756840 12836483 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv466505,nsv466727 M 1557 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1798860570_A,HGDP00007 dgv116n54 1 12756840 12841261 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545451,nsv545450,nsv545454,nsv545449 M 17421 0 5 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 HGDP00952,HGDP00988 dgv20n100 1 12757155 12840666 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009348,nsv1004963,nsv1014276,nsv1001595,nsv1000550,nsv1007497,nsv1008631,nsv1014734 M 29084 0 16 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 nsv945774 1 12757503 12883938 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754194,nssv1754249,nssv1754257,nssv1754224,nssv1754261,nssv1754211,nssv1754254,nssv1754262,nssv1754198,nssv1754220,nssv1754195,nssv1754206,nssv1754175,nssv1754174,nssv1754202,nssv1754263,nssv1754259,nssv1754204,nssv1754260,nssv1754219,nssv1754191,nssv1754270,nssv1754179,nssv1754242,nssv1754188,nssv1754246,nssv1754203,nssv1754201,nssv1754178,nssv1754239,nssv1754193,nssv1754200,nssv1754176,nssv1754233,nssv1754186,nssv1754209,nssv1754180,nssv1754226,nssv1754190,nssv1754237,nssv1754181,nssv1754264,nssv1754185,nssv1754271,nssv1754192,nssv1754235,nssv1754255,nssv1754268,nssv1754177,nssv1754217,nssv1754196,nssv1754214,nssv1754187,nssv1754199,nssv1754189,nssv1754243,nssv1754258,nssv1754228,nssv1754182,nssv1754251,nssv1754256,nssv1754227,nssv1754253,nssv1754229,nssv1754184,nssv1754240,nssv1754183,nssv1754215,nssv1754205,nssv1754197,nssv1754252,nssv1754212,nssv1754210,nssv1754236,nssv1754234,nssv1754247,nssv1754248,nssv1754241,nssv1754223,nssv1754218,nssv1754231,nssv1754267,nssv1754208,nssv1754245,nssv1754230,nssv1754225,nssv1754250,nssv1754269,nssv1754265,nssv1754232,nssv1754244,nssv1754207,nssv1754266,nssv1754238,nssv1754216,nssv1754213,nssv1754221 M 97 10 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv6n27 1 12758455 12836483 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv466838,nsv466949,nsv466616 M 1557 0 3 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1780862077_A,HGDP00952,HGDP01366 dgv117n54 1 12758455 12841261 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545456,nsv545452 M 17421 3 4 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 1780862077_A,HGDP00007,HGDP01366 dgv21n100 1 12758455 12938082 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011809,nsv1010745,nsv998530,nsv997632,nsv1000920,nsv1002288,nsv1006273,nsv1006654,nsv998681 M 29084 0 72 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv517190 1 12758455 13648417 CNV gain+loss Shaikh_et_al_2009 19592680 SNP array nssv691789,nssv655298,nssv681352,nssv659765,nssv656069,nssv669367,nssv660725,nssv683316,nssv659030,nssv705370,nssv690145,nssv688922,nssv675460,nssv672363,nssv676136,nssv666273,nssv689950,nssv662340,nssv687685,nssv680385,nssv659477,nssv670277,nssv674582,nssv658961,nssv664702,nssv678613,nssv668984,nssv688036,nssv685626,nssv664467,nssv663875,nssv669316,nssv674765,nssv678527,nssv661007,nssv680870,nssv658370,nssv658040,nssv681241,nssv676168,nssv665485,nssv677586,nssv672026,nssv671841,nssv688196,nssv692088,nssv674814,nssv680445,nssv690595,nssv653971,nssv683850,nssv702090,nssv675328,nssv655162,nssv652446,nssv655601,nssv668625,nssv681069,nssv687277,nssv658218,nssv670769,nssv680570,nssv660425,nssv684041,nssv660049,nssv651901,nssv654351,nssv685508,nssv663203,nssv678933,nssv688182,nssv662290,nssv680419,nssv652682,nssv654248,nssv688711,nssv652055,nssv659462,nssv692526,nssv670301,nssv664297,nssv676530,nssv677999,nssv662916,nssv676529,nssv684928,nssv687198,nssv675204,nssv682789,nssv662505,nssv660265 M 2026 21 70 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv22n100 1 12759029 13344520 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998433,nsv1000037,nsv1011355,nsv997273,nsv1004545,nsv1007972,nsv1000597,nsv1007272,nsv1007258,nsv1005952,nsv1009800,nsv1014205 M 29084 13 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF15,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv23n100 1 12760427 12805671 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005803,nsv1010693,nsv998824,nsv1009173,nsv1006151 M 29084 0 52 PRAMEF1,PRAMEF12 esv2763769 1 12760427 13744529 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv6992522,essv6993966,essv6992633,essv6992411,essv6992855,essv6992078,essv6994078,essv6993300,essv7032856,essv6992189,essv7033078,essv6991411,essv6991078,essv6991300,essv7033189,essv6993078,essv7033300,essv6993189,essv6990967,essv6991967,essv6993522,essv6994300,essv6991856,essv6992967,essv6992300,essv7032745,essv6990856,essv6993411,essv6993633,essv6994189,essv6993744,essv6990745,essv7032967,essv6991744,essv6991633,essv6991522,essv6991189,essv6993855,essv6992744 M 1109 6 32 HNRNPCL1,HNRNPCP5,LOC649330,LRRC38,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 SW_0018,SW_0029,SW_0044,SW_0048,SW_0144,SW_0338,SW_0379,SW_0576,SW_0580,SW_0585,SW_0647,SW_0758,SW_0789,SW_0805,SW_0817,SW_0859,SW_0888,SW_0890,SW_0892,SW_1029,SW_1056,SW_1070,SW_1088,SW_1095,SW_1118,SW_1170,SW_1172,SW_1198,SW_1203,SW_1215,SW_1244,SW_1263,SW_1283,SW_1356,SW_1428,SW_1460,SW_1470,SW_1509 dgv24n100 1 12761319 12814884 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998574,nsv1002449 M 29084 0 3 PRAMEF1,PRAMEF11 dgv25n100 1 12761319 13109945 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998901,nsv1007137,nsv997840,nsv1001463 M 29084 0 5 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 dgv26n100 1 12761319 13344520 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013182,nsv1008135,nsv1010963,nsv1014048,nsv1000469,nsv1012212,nsv999070,nsv1003480,nsv1005987 M 29084 32 36 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF15,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 esv2764212 1 12761331 13109957 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004974,essv7005004,essv7004996,essv7004997,essv7005001,essv7004986,essv7004981,essv7004983,essv7004976,essv7004993,essv7004972,essv7004995,essv7004971,essv7004988,essv7004982,essv7004994,essv7004990,essv7004992,essv7004964,essv7004973,essv7004963,essv7004977,essv7005003,essv7004962,essv7004991,essv7004987,essv7004965,essv7004999,essv7004980,essv7004961,essv7004969,essv7005002,essv7004985,essv7004998,essv7004970,essv7004984,essv7004979,essv7004968,essv7004975 M 1109 4 32 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 RW_0004,RW_0021,RW_0033,RW_0045,RW_0084,RW_0116,RW_0139,RW_0140,RW_0147,RW_0169,RW_0189,RW_0190,RW_0193,RW_0196,RW_0216,RW_0223,RW_0232,RW_0237,RW_0249,RW_0254,RW_0266,RW_0269,RW_0319,RW_0325,RW_0515,RW_0521,RW_0539,RW_0540,RW_0543,RW_0544,RW_0552,RW_0604,RW_0607,RW_0612,RW_0636 nsv821559 1 12762564 12815652 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1421068 M 1 1 0 PRAMEF1,PRAMEF11 NA10851 dgv13n67 1 12762564 12832142 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv828586,nsv828697 M 31 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 AK20,NA18969 nsv471539 1 12762846 12787958 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv547949,nssv547950,nssv547951 M 3 3 0 PRAMEF1 JDW,NA18507,YH esv28644 1 12763195 12975525 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv13103,esv15812,esv19152,esv18407,esv11373,esv13474,esv21420,esv16532,esv16950,esv20242,esv11679,esv12552,esv11323,esv15024,esv18833 M 40 36 11 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv990214 1 12764394 12873662 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586626 M 3 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 HuRef esv3584586 1 12764515 12805683 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9838624 M 34 0 1 PRAMEF1 3LK esv2421662 1 12764515 12894420 OTHER complex Altshuler_et_al_2010 20811451 SNP array essv5038349,essv5104297,essv5013828,essv5107947,essv5039373,essv5098165,essv5067055,essv5098033,essv5102370,essv5029580,essv5120396,essv5159736,essv5132926,essv5009132,essv5025654,essv5116203,essv5144838,essv5022261,essv5106036,essv5122638,essv5049008,essv5059824,essv5057726,essv5140930,essv5109453,essv5041350,essv5018496,essv5109420,essv5140420,essv5009774,essv5066353,essv5122668,essv5131081,essv5003555,essv5102257,essv5082781,essv5053532,essv5061766,essv5050218,essv5051593,essv5034347,essv5115604,essv5065514,essv5072990,essv5024352,essv5077663,essv5061594,essv5111327,essv5023516,essv5024400,essv5027197,essv5121017,essv5089601,essv5018867,essv5030453,essv5006338,essv5088719,essv5089177,essv5114531,essv5040953,essv5117560,essv5038935,essv5159266,essv5116223,essv5143438,essv5150257,essv5124804,essv5139478,essv5102044,essv5040928,essv5074962,essv5018478,essv5048343,essv5128528,essv5129922,essv5073546,essv5116865,essv5097924,essv5138370,essv5053293,essv5134010,essv5133462,essv5098485,essv5064090,essv5084483,essv5068309,essv5017667,essv5109345,essv5115549,essv5012238 M 1184 20 70 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA10838,NA10847,NA10853,NA11891,NA11918,NA12044,NA12344,NA12375,NA12383,NA12546,NA12718,NA12753,NA12763,NA12874,NA17962,NA17965,NA17974,NA17996,NA18109,NA18135,NA18144,NA18161,NA18555,NA18559,NA18593,NA18611,NA18614,NA18617,NA18622,NA18624,NA18702,NA18863,NA18923,NA18924,NA18925,NA18951,NA18955,NA18963,NA18965,NA18969,NA18981,NA18990,NA18991,NA19066,NA19083,NA19103,NA19236,NA19313,NA19334,NA19390,NA19436,NA19468,NA19681,NA19683,NA19720,NA19721,NA19747,NA19748,NA19770,NA19789,NA19908,NA19914,NA19915,NA19919,NA20337,NA20542,NA20810,NA20818,NA20828,NA20887,NA21088,NA21102,NA21111,NA21119,NA21144,NA21316,NA21317,NA21318,NA21364,NA21367,NA21381,NA21383,NA21414,NA21512,NA21519,NA21596,NA21635,NA21636,NA21740,NA21784 esv3584589 1 12764515 13249634 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9837920 M 34 0 1 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 KSF005 nsv1008195 1 12768438 12790541 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467162,nssv3480488,nssv3697900,nssv3477814,nssv3697899 M 29084 1 4 PRAMEF1 dgv27n100 1 12768438 12840666 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004265,nsv1009423,nsv1006973,nsv1005285,nsv1012040,nsv1010457,nsv1007443 M 29084 13 111 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 dgv28n100 1 12768438 12938082 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000098,nsv998447,nsv1003633,nsv1012081 M 29084 12 73 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 dgv29n100 1 12768438 13081658 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008555,nsv1008882,nsv1013855 M 29084 5 8 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 dgv30n100 1 12768438 13344279 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011289,nsv1013726,nsv1002325,nsv1009318,nsv998466,nsv999517,nsv1011638,nsv1001817,nsv1000258,nsv1002694,nsv998870,nsv1010904,nsv1013772,nsv1008901,nsv1004453,nsv1002421 M 29084 0 28 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF15,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv31n100 1 12768438 13590399 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005187,nsv1006435,nsv999913 M 29084 3 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv442270 1 12768450 12805683 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1618024,nssv1618202,nssv1618135,nssv1618213,nssv1617924,nssv1616614,nssv1618002,nssv1618091,nssv1618257,nssv1617969,nssv1617935,nssv1618246,nssv1618080,nssv1618146,nssv1618013,nssv1616625,nssv1618069,nssv1617991,nssv1618113,nssv1618102,nssv1618124,nssv1617958,nssv1618169,nssv1618058,nssv1618035,nssv1617947,nssv1618235,nssv1618157,nssv1616647,nssv1618224,nssv1617980,nssv1617913,nssv1618180,nssv1618268,nssv1618191,nssv1618046,nssv1616636 M 270 9 28 PRAMEF1 NA07019,NA07056,NA10838,NA10857,NA12004,NA12044,NA12753,NA12763,NA12815,NA12865,NA12874,NA18529,NA18555,NA18582,NA18593,NA18603,NA18611,NA18621,NA18622,NA18624,NA18635,NA18861,NA18863,NA18947,NA18951,NA18965,NA18969,NA18978,NA18981,NA18990,NA18991,NA18995,NA18997,NA19000,NA19092,NA19094,NA19103 nsv8768 1 12768742 13390175 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv26897,nssv12099,nssv28042,nssv29277,nssv28039,nssv12096,nssv12120,nssv28545,nssv29258,nssv11776,nssv28937,nssv28554,nssv11774,nssv28944,nssv28049,nssv28929,nssv28920,nssv12111,nssv28543,nssv28540,nssv11790,nssv11775,nssv11772,nssv29267,nssv28056,nssv13414,nssv11764,nssv12438,nssv12765,nssv28541,nssv12752,nssv26901,nssv28935,nssv28927,nssv28032,nssv12767,nssv28544,nssv28047,nssv29265,nssv26895,nssv29264,nssv28933,nssv29250,nssv29257,nssv12101,nssv28539,nssv13744,nssv12112,nssv12108,nssv29263,nssv24599,nssv29269,nssv13753,nssv28550,nssv28036,nssv29259,nssv29249,nssv29275,nssv26881,nssv26899,nssv12439,nssv26898,nssv28035,nssv29274,nssv14074,nssv13429,nssv28943,nssv26891,nssv11781,nssv12093,nssv28053,nssv28936,nssv28560,nssv26880,nssv28050,nssv28931,nssv14083,nssv14423,nssv12433,nssv12780,nssv11780,nssv28934,nssv28549,nssv12769,nssv14429,nssv12435,nssv21451,nssv13093,nssv28040,nssv24616,nssv12094,nssv11783,nssv11771,nssv28556,nssv24598,nssv13428,nssv28043,nssv29271,nssv28557,nssv26883,nssv12113,nssv28932,nssv11777,nssv28559,nssv28033,nssv12443,nssv14099,nssv12773,nssv29266,nssv28941,nssv28555,nssv29262,nssv13103,nssv12092,nssv12121,nssv28546,nssv28945,nssv28939,nssv28553,nssv29278,nssv28928,nssv28547,nssv11769,nssv13433,nssv12429,nssv29253,nssv11762,nssv12424,nssv12441,nssv12426,nssv28041,nssv13099,nssv13763,nssv28948,nssv13769,nssv24622,nssv21427,nssv28923,nssv14093,nssv12437,nssv13098,nssv26904,nssv12450,nssv12763,nssv11778,nssv28938,nssv14753,nssv12103,nssv26878,nssv15113,nssv11791,nssv26890,nssv11779,nssv11766,nssv12105,nssv12754,nssv28947,nssv29256,nssv12779,nssv12422,nssv13109,nssv13439,nssv12109,nssv29261,nssv11770,nssv28551,nssv11763,nssv13423,nssv11782,nssv28051,nssv13084,nssv12768,nssv28531,nssv28919,nssv12107,nssv29268 M 31 30 19 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv14n67 1 12769321 12842627 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv829030,nsv828808 M 31 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 AK2,NA18997 esv32750 1 12769531 13065155 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv101326,essv99068,essv97675,essv97209,essv96818,essv98305,essv95436,essv95313,essv93282,essv97562,essv100556,essv94766,essv98419,essv96441,essv94614,essv96954,essv95060,essv100225,essv92784,essv97952,essv93105,essv96187,essv92594,essv101537,essv96690,essv97426,essv100377,essv95661,essv99314,essv99649,essv95999,essv94423,essv92841,essv100986,essv96257,essv95868,essv101177 M 51 37 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 21603,21616,21618,21659,21693,21721,21772,21791,21805,21808,21817,21837,21841,21847,21863,21872,21879,21911,21932,21938,21939,21944,22007,22011,22075,22127,22170,22217,22233,22261,22275,22278,22286,22298,22300,22352,22371 dgv118n54 1 12769585 12810136 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545459,nsv545455 M 17421 2 0 PRAMEF1,PRAMEF11 nsv545457 1 12769585 12876330 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710035 M 17421 0 1 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 nsv1008359 1 12775335 12790412 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477341 M 29084 1 0 PRAMEF1 nsv1004622 1 12775335 12790541 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3697973,nssv3697974 M 29084 0 2 PRAMEF1 dgv119n54 1 12775335 12810136 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545460,nsv545458 M 17421 0 2 PRAMEF1,PRAMEF11 dgv32n100 1 12775335 12814884 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003521,nsv1014011,nsv1010023,nsv1005421,nsv1009315 M 29084 0 19 PRAMEF1,PRAMEF11 nsv1006524 1 12775335 12814884 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464724,nssv3466020,nssv3481657,nssv3472344,nssv3471824,nssv3697978,nssv3465603 M 29084 1 6 PRAMEF1,PRAMEF11 dgv33n100 1 12775335 12838434 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014153,nsv1014357,nsv1011031,nsv1000846,nsv1009225,nsv1005021,nsv1010518,nsv1014677 M 29084 0 32 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 dgv120n54 1 12775459 12845198 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545476,nsv545463,nsv545461,nsv545471,nsv545475 M 17421 0 11 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 dgv15n67 1 12776279 12820751 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv829141,nsv828919 M 31 0 2 PRAMEF1,PRAMEF11 AK6,NA18951 nsv545462 1 12777429 12834675 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710040 M 17421 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 nsv1001422 1 12780450 12790541 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466853 M 29084 1 0 "" esv3584476 1 12780450 12814896 CNV gain Mokhtar_et_al_2014 24956385 SNP array essv9838580 M 34 1 0 PRAMEF11 OA020 nsv438192 1 12783336 12790824 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv468629,nssv468518 M 269 0 2 "" NA19101,NA19103 dgv121n54 1 12783336 12793914 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545474,nsv545464 M 17421 0 3 "" dgv122n54 1 12783336 12802943 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545466,nsv545465 M 17421 0 6 "" HGDP00702,HGDP00999,HGDP01254,HGDP01269 dgv7n27 1 12783336 12802943 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv467171,nsv467283,nsv467394,nsv467505 M 1557 0 4 "" HGDP00702,HGDP00999,HGDP01254,HGDP01269 nsv545467 1 12783336 12805718 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710049,nssv710047,nssv710048 M 17421 2 1 "" nsv470696 1 12783336 12836482 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547704,nssv547706,nssv547705,nssv547707,nssv547708 M 443 5 0 HNRNPCL1,LOC649330,PRAMEF11 HGDP00072,HGDP00560,HGDP00572,HGDP00714,HGDP01317 dgv123n54 1 12783336 12836483 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545480,nsv545470,nsv545485,nsv545469 M 17421 37 63 HNRNPCL1,LOC649330,PRAMEF11 1780846321_A,1780854128_A,1780854216_A,1780854260_A,1780854261_A,1780854362_A,1780862085_A,1780862294_A,1782681216_A,1798860565_A,HGDP00021,HGDP00072,HGDP00262,HGDP00364,HGDP00560,HGDP00572,HGDP00694,HGDP00707,HGDP00714,HGDP00751,HGDP00856,HGDP00869,HGDP00945,HGDP00950,HGDP01103,HGDP01251,HGDP01306,HGDP01317,HGDP01352,HGDP01372,HGDP01399,HGDP01400,NINDS_109,NINDS_117,NINDS_134,NINDS_182,NINDS_198,NINDS_208,NINDS_219,NINDS_240,NINDS_253,NINDS_258,NINDS_266,NINDS_27,NINDS_50,NINDS_70,NINDS_83,NINDS_90 dgv8n27 1 12783336 12836483 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv456551,nsv456218,nsv469171,nsv460039,nsv455996,nsv469393,nsv456885,nsv458551,nsv457773,nsv468616,nsv457440,nsv460206,nsv460284,nsv460050,nsv457218,nsv460217,nsv460195,nsv458996,nsv460062,nsv460073,nsv468838,nsv455885,nsv457662,nsv460228,nsv460295,nsv459662,nsv458662,nsv456440,nsv460084,nsv458884,nsv460095,nsv457996,nsv460161,nsv456996,nsv456329,nsv460117,nsv459440,nsv460328,nsv460306,nsv460128,nsv457551,nsv459329,nsv468727,nsv460317,nsv456107,nsv456774,nsv455774,nsv459551,nsv460139,nsv460239,nsv456662,nsv460339,nsv467616,nsv457329,nsv460150,nsv458107,nsv460250,nsv460173,nsv459107,nsv460017,nsv457885,nsv458773,nsv459218,nsv460006,nsv467727,nsv468505,nsv460261,nsv458329,nsv458440,nsv460184,nsv460028 M 1557 0 71 HNRNPCL1,LOC649330,PRAMEF11 1780854095_A,1780854216_A,1780854341_A,1780854357_A,1780854384_A,1780862015_A,1780862229_A,1780862250_A,1780862263_A,1780862346_A,1780862390_A,1780862574_A,1782681236_A,1782681287_A,1787431167_A,1798860277_A,HGDP00106,HGDP00169,HGDP00251,HGDP00267,HGDP00279,HGDP00285,HGDP00351,HGDP00364,HGDP00423,HGDP00694,HGDP00732,HGDP00748,HGDP00751,HGDP00780,HGDP00781,HGDP00791,HGDP00813,HGDP00856,HGDP00869,HGDP00896,HGDP00945,HGDP00950,HGDP00964,HGDP01003,HGDP01010,HGDP01191,HGDP01296,HGDP01306,HGDP01321,HGDP01330,HGDP01338,HGDP01352,HGDP01360,HGDP01361,HGDP01363,HGDP01368,HGDP01369,HGDP01372,HGDP01375,HGDP01400,NINDS_109,NINDS_117,NINDS_134,NINDS_182,NINDS_198,NINDS_219,NINDS_240,NINDS_253,NINDS_258,NINDS_266,NINDS_27,NINDS_50,NINDS_70,NINDS_83,NINDS_90 dgv9n27 1 12783336 12836483 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460272,nsv467949,nsv457107,nsv459884,nsv459962,nsv460106,nsv468949,nsv468394,nsv468282,nsv459951,nsv459939,nsv458218,nsv468171,nsv459773,nsv459973,nsv459984,nsv468060,nsv459995,nsv469282,nsv469060,nsv455663,nsv467838 M 1557 22 0 HNRNPCL1,LOC649330,PRAMEF11 1780846321_A,1780854128_A,1780854260_A,1780854261_A,1780854362_A,1780862085_A,1780862294_A,1780862487_A,1782681216_A,1798860565_A,HGDP00021,HGDP00072,HGDP00262,HGDP00560,HGDP00572,HGDP00714,HGDP01033,HGDP01103,HGDP01251,HGDP01317,HGDP01399,NINDS_208 nsv817728 1 12783336 12836483 CNV gain+loss Wang_et_al_2007 17921354 SNP array nssv1417095,nssv1418336,nssv1417408,nssv1418245,nssv1418338,nssv1418244 M 112 4 2 HNRNPCL1,LOC649330,PRAMEF11 NA10847,NA12239,NA18529,NA18951,NA19092,NA19094 dgv124n54 1 12783336 12845198 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545495,nsv545468,nsv545497,nsv545481,nsv545488,nsv545491,nsv545493,nsv545496,nsv545492,nsv545479,nsv545487,nsv545478,nsv545494,nsv545484,nsv545483 M 17421 0 27 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 1780854357_A,1787431167_A,HGDP00169,HGDP00423,HGDP00709,HGDP00732,HGDP00791,HGDP01003,HGDP01010,HGDP01016,HGDP01296,HGDP01338,HGDP01368 dgv125n54 1 12783336 12973925 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545472,nsv545473 M 17421 0 2 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv1002419 1 12784816 12840666 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481472 M 29084 1 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 nsv999194 1 12784906 12938082 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479949 M 29084 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 dgv126n54 1 12788507 12802943 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545477,nsv545482 M 17421 0 2 "" dgv1n64 1 12788507 12836483 CNV loss Wang_et_al_2007 17921354 SNP array nsv817839,nsv818045,nsv817950 M 112 0 6 HNRNPCL1,LOC649330,PRAMEF11 NA10857,NA12044,NA12865,NA12874,NA18593,NA18965 nsv545486 1 12789655 12810136 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710118 M 17421 0 1 PRAMEF11 nsv1010920 1 12789665 12840666 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465684,nssv3481473,nssv3698764,nssv3698765,nssv3698766,nssv3476599,nssv3468483,nssv3476760,nssv3463893,nssv3481731,nssv3479801,nssv3465681 M 29084 2 10 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 nsv829252 1 12789721 12790323 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1440800 M 31 0 1 "" NA18969 nsv2965 1 12793128 13108493 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10340,nssv5045,nssv9308,nssv3620 M 9 0 4 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878,NA18517,NA18956,NA19129 nsv829363 1 12793527 12795558 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1440801 M 31 0 1 "" NA18969 nsv545489 1 12793914 12802943 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710121,nssv710120 M 17421 0 2 "" nsv545490 1 12793914 12822321 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710122 M 17421 0 1 PRAMEF11 dgv127n54 1 12798011 12841654 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545500,nsv545499,nsv545498,nsv545502,nsv545501 M 17421 0 13 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 HGDP00662 esv1063166 1 12798812 12798812 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4300681 M 2 1 0 "" HuRef nsv7172 1 12802281 13249729 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv11101,nssv7150,nssv7060,nssv11168,nssv5213,nssv9625,nssv2496,nssv10379,nssv9624,nssv5286,nssv382,nssv3714,nssv6080,nssv10403,nssv9329,nssv5133 M 9 0 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv460350 1 12802740 12836483 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536942 M 1557 0 1 HNRNPCL1,LOC649330,PRAMEF11 HGDP00662 dgv128n54 1 12802740 13048325 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545503,nsv545505 M 17421 0 2 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 nsv433182 1 12802943 12883614 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463063 M 9 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA15510 esv3428728 1 12812752 12815550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691774 M 185 1 0 PRAMEF11 NA12878 dgv129n54 1 12813348 12937470 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545504,nsv545526,nsv545516,nsv545508,nsv545517 M 17421 0 6 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv820528 1 12815653 12969918 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1419881 M 1 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA10851 nsv436469 1 12815837 12871344 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466583 M 2 0 1 HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 NA18505 dgv130n54 1 12817106 12846549 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545506,nsv545507 M 17421 0 3 HNRNPCL1,LOC649330,PRAMEF2 esv3338113 1 12817339 13105934 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808895 M 185 0 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878 dgv16n67 1 12820351 12842775 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv829437,nsv829426,nsv829459,nsv829448 M 31 7 0 HNRNPCL1,LOC649330,PRAMEF2 AK10,NA18526,NA18564,NA18570,NA18947,NA18949,NA18972 dgv131n54 1 12822321 12847199 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545511,nsv545509,nsv545515,nsv545513,nsv545514,nsv545512,nsv545510 M 17421 0 38 HNRNPCL1,LOC649330,PRAMEF2 nsv819147 1 12826587 13093905 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418797 M 2 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 AK1 nsv821616 1 12826893 13583802 CNV gain Sebat_et_al_2004 15273396 ROMA nssv1421363,nssv1421290,nssv1421374,nssv1421179,nssv1421352,nssv1421341 M 31 6 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv442514 1 12831824 12849694 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617058,nssv1616980,nssv1616824,nssv1617069,nssv1616924,nssv1617102,nssv1617091,nssv1616969,nssv1616713,nssv1617013,nssv1616858,nssv1616802,nssv1617246,nssv1617035,nssv1616725,nssv1617202,nssv1617257,nssv1617046,nssv1617235,nssv1617080,nssv1617002,nssv1616791,nssv1617302,nssv1616813,nssv1616736,nssv1616780,nssv1616658,nssv1616836,nssv1617213,nssv1616702,nssv1617224,nssv1617157,nssv1616769,nssv1616880,nssv1617268,nssv1617191,nssv1617169,nssv1616947,nssv1617024,nssv1616891,nssv1616747,nssv1616902,nssv1617280,nssv1616991,nssv1617124,nssv1616669,nssv1616680,nssv1616691,nssv1617113,nssv1616869,nssv1616958,nssv1617180,nssv1617146,nssv1617313,nssv1616847,nssv1616935,nssv1617135,nssv1616913,nssv1617291,nssv1616758 M 270 31 29 PRAMEF2 NA06994,NA07345,NA07348,NA10838,NA10847,NA10851,NA10857,NA12003,NA12004,NA12044,NA12057,NA12239,NA12717,NA12751,NA12753,NA12763,NA12815,NA12864,NA12865,NA12873,NA12874,NA12875,NA18501,NA18506,NA18508,NA18526,NA18550,NA18563,NA18564,NA18566,NA18570,NA18593,NA18609,NA18611,NA18612,NA18622,NA18636,NA18861,NA18863,NA18940,NA18949,NA18951,NA18952,NA18964,NA18965,NA18969,NA18971,NA18972,NA18981,NA18991,NA18992,NA18997,NA18998,NA19005,NA19092,NA19103,NA19116,NA19127,NA19129,NA19222 dgv132n54 1 12831826 12843697 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545519,nsv545518,nsv545522,nsv545525 M 17421 0 4 PRAMEF2 dgv10n27 1 12833787 12836483 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460383,nsv460395,nsv460417,nsv460406,nsv460428,nsv460450,nsv460439,nsv460461,nsv460361,nsv460472,nsv460372 M 1557 0 11 "" HGDP00467,HGDP00541,HGDP00702,HGDP00832,HGDP00837,HGDP00846,HGDP00849,HGDP00876,HGDP00984,HGDP00995,HGDP00999 nsv545520 1 12833787 12836483 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173752,nssv1173753,nssv1173754,nssv1173758,nssv1173755,nssv1173756,nssv1173757,nssv1173759,nssv1173761,nssv1173760,nssv1173762,nssv1173763,nssv1173750,nssv1173765,nssv1173751,nssv1173764,nssv1173766,nssv1173767 M 17421 0 18 "" HGDP00467,HGDP00541,HGDP00702,HGDP00830,HGDP00832,HGDP00833,HGDP00834,HGDP00837,HGDP00844,HGDP00846,HGDP00847,HGDP00848,HGDP00849,HGDP00850,HGDP00876,HGDP00984,HGDP00995,HGDP00999 dgv133n54 1 12833787 12842021 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545523,nsv545524,nsv545521 M 17421 0 4 PRAMEF2 dgv134n54 1 12838434 12975508 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545527,nsv545528 M 17421 2 0 PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 esv3326797 1 12856552 12857850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691776 M 185 1 0 "" NA12878 dgv135n54 1 12861980 12934044 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545530,nsv545531,nsv545529,nsv545533 M 17421 0 5 PRAMEF10,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 esv3435358 1 12866452 12868050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691777 M 185 1 0 PRAMEF4 NA12878 nsv545532 1 12874361 12907825 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710207 M 17421 0 1 PRAMEF10,PRAMEF7,PRAMEF8 nsv945775 1 12883938 12897164 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751582,nssv1751565,nssv1754273,nssv1751540,nssv1754281,nssv1751525,nssv1751528,nssv1751568,nssv1751521,nssv1751538,nssv1751576,nssv1751530,nssv1751522,nssv1751533,nssv1751578,nssv1751549,nssv1754286,nssv1751554,nssv1754284,nssv1751536,nssv1754277,nssv1751545,nssv1751581,nssv1754272,nssv1751524,nssv1751567,nssv1754282,nssv1751526,nssv1754275,nssv1751562,nssv1754278,nssv1751563,nssv1751579,nssv1751552,nssv1751577,nssv1751569,nssv1751515,nssv1751559,nssv1751532,nssv1751523,nssv1751583,nssv1751571,nssv1754280,nssv1751534,nssv1751584,nssv1751547,nssv1751574,nssv1751548,nssv1751580,nssv1751537,nssv1754274,nssv1751544,nssv1751517,nssv1751557,nssv1754283,nssv1751573,nssv1751516,nssv1751535,nssv1751529,nssv1751555,nssv1754279,nssv1751560,nssv1754276,nssv1751566,nssv1754285,nssv1751541,nssv1751519,nssv1751572,nssv1754287,nssv1751550,nssv1751518,nssv1751527,nssv1751539,nssv1751558,nssv1751543,nssv1751546,nssv1751551,nssv1751556,nssv1751561,nssv1751570 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945776 1 12897164 12975663 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752294,nssv1752283,nssv1751595,nssv1752278,nssv1751590,nssv1752282,nssv1751617,nssv1751615,nssv1751616,nssv1752264,nssv1752295,nssv1751631,nssv1751610,nssv1751623,nssv1751587,nssv1752277,nssv1751598,nssv1751639,nssv1751606,nssv1752261,nssv1752289,nssv1752284,nssv1751600,nssv1751611,nssv1751591,nssv1752266,nssv1751596,nssv1751627,nssv1751620,nssv1751618,nssv1751612,nssv1752272,nssv1751588,nssv1752263,nssv1751603,nssv1751637,nssv1751609,nssv1751629,nssv1751599,nssv1751632,nssv1751589,nssv1751626,nssv1752292,nssv1752267,nssv1751607,nssv1751628,nssv1752291,nssv1751621,nssv1752293,nssv1752271,nssv1751592,nssv1752305,nssv1752286,nssv1752298,nssv1751601,nssv1752297,nssv1751594,nssv1751633,nssv1752288,nssv1752303,nssv1751593,nssv1751636,nssv1751605,nssv1752306,nssv1752287,nssv1752299,nssv1751602,nssv1752302,nssv1752296,nssv1752276,nssv1751604,nssv1751642,nssv1751640,nssv1751613,nssv1751634,nssv1752285,nssv1751624,nssv1751585,nssv1751614,nssv1752262,nssv1752260,nssv1751635,nssv1752281,nssv1752269,nssv1752304,nssv1752300,nssv1752273,nssv1752280,nssv1751643,nssv1752265,nssv1752275,nssv1752307,nssv1752270,nssv1752274,nssv1751622,nssv1751625,nssv1751638 M 97 10 0 PRAMEF22,PRAMEF6,PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545534 1 12903647 12920766 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710210 M 17421 0 1 "" nsv545535 1 12904368 12951424 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710211 M 17421 0 1 PRAMEF6 nsv545536 1 12918097 12973925 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710212 M 17421 0 1 PRAMEF22,PRAMEF6 nsv508902 1 12920626 13058533 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619771,nssv623773 M 4 2 0 PRAMEF22,PRAMEF23,PRAMEF5,PRAMEF6 NA10860,NA18994 nsv510936 1 12920626 13521717 OTHER complex Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621649,nssv624358 M 4 0 0 HNRNPCP5,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA15510,NA18994 nsv1013838 1 12920855 13256958 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477045 M 29084 0 1 HNRNPCP5,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6 esv1004322 1 12920968 12975585 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586195 M 3 1 0 PRAMEF22,PRAMEF6 HuRef nsv945564 1 12925031 12927653 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572291,nssv2572340,nssv2572326,nssv2572338,nssv2572307,nssv2572279,nssv2572330,nssv2572265,nssv2572303,nssv2572273,nssv2572332,nssv2572335,nssv2572310,nssv2572280,nssv2572313,nssv2572278,nssv2572289,nssv2572343,nssv2572312,nssv2572269,nssv2572296,nssv2572344,nssv2572297,nssv2572272,nssv2572290,nssv2572293,nssv2572304,nssv2572283,nssv2572301,nssv2572274,nssv2572328,nssv2572282,nssv2572317,nssv2572341,nssv2572311,nssv2572267,nssv2572333,nssv2572295,nssv2572331,nssv2572276,nssv2572318,nssv2572339,nssv2572264,nssv2572268,nssv2572315,nssv2572277,nssv2572287,nssv2572271,nssv2572327,nssv2572270,nssv2572319,nssv2572266,nssv2572322,nssv2572284,nssv2572314,nssv2572336,nssv2572324,nssv2572342,nssv2572302,nssv2572288,nssv2572309,nssv2572286,nssv2572320,nssv2572285,nssv2572321,nssv2572275,nssv2572334,nssv2572292,nssv2572294,nssv2572337,nssv2572298,nssv2572281,nssv2572323,nssv2572300,nssv2572308,nssv2572306,nssv2572316,nssv2572305,nssv2572299,nssv2572325 M 97 10 0 PRAMEF6 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv433183 1 12937471 13110000 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463064 M 9 0 1 HNRNPCP5,PRAMEF22,PRAMEF23,PRAMEF5 NA19129 nsv545537 1 12948150 12975508 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710213 M 17421 1 0 PRAMEF22 nsv821036 1 12969919 12975525 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1419992 M 1 1 0 "" NA10851 esv1010773 1 13025586 13047004 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586120 M 3 1 0 PRAMEF23,PRAMEF5 HuRef nsv820886 1 13025610 13071008 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420103 M 1 0 1 PRAMEF23,PRAMEF5 NA10851 esv27872 1 13025610 13142282 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv19875,esv10209,esv10927,esv13674,esv19236,esv20553,esv19008,esv13717,esv20862,esv12755 M 40 14 6 HNRNPCP5,PRAMEF23,PRAMEF5 NA11894,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12878,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19190,NA19225 nsv945777 1 13025663 13142142 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752327,nssv1752370,nssv1752393,nssv1752387,nssv1752401,nssv1752383,nssv1752398,nssv1752386,nssv1752330,nssv1752333,nssv1752310,nssv1752409,nssv1752402,nssv1752375,nssv1752324,nssv1752338,nssv1752325,nssv1752360,nssv1752395,nssv1752351,nssv1752331,nssv1752392,nssv1752309,nssv1752352,nssv1752315,nssv1752381,nssv1752311,nssv1752355,nssv1752332,nssv1752414,nssv1752342,nssv1752353,nssv1752322,nssv1752388,nssv1752314,nssv1752337,nssv1752399,nssv1752343,nssv1752335,nssv1752373,nssv1752397,nssv1752371,nssv1752313,nssv1752410,nssv1752319,nssv1752344,nssv1752320,nssv1752350,nssv1752316,nssv1752369,nssv1752326,nssv1752359,nssv1752394,nssv1752390,nssv1752396,nssv1752384,nssv1752339,nssv1752382,nssv1752317,nssv1752385,nssv1752318,nssv1752405,nssv1752340,nssv1752346,nssv1752403,nssv1752379,nssv1752328,nssv1752376,nssv1752329,nssv1752364,nssv1752321,nssv1752361,nssv1752374,nssv1752363,nssv1752365,nssv1752368,nssv1752412,nssv1752349,nssv1752354,nssv1752308,nssv1752362,nssv1752413,nssv1752357,nssv1752358,nssv1752408,nssv1752406,nssv1752380,nssv1752377,nssv1752366,nssv1752348,nssv1752407,nssv1752391,nssv1752336,nssv1752347,nssv1752372,nssv1752404,nssv1752341 M 97 10 0 HNRNPCP5,PRAMEF23,PRAMEF5 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545538 1 13026162 13099050 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710214,nssv710215 M 17421 0 2 PRAMEF23,PRAMEF5 dgv136n54 1 13034919 13040068 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545540,nsv545539 M 17421 0 2 PRAMEF23,PRAMEF5 nsv945565 1 13035198 13037000 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572361,nssv2572707,nssv2572376,nssv2572704,nssv2572346,nssv2572368,nssv2572362,nssv2572696,nssv2572348,nssv2572713,nssv2572729,nssv2572708,nssv2572728,nssv2572717,nssv2572374,nssv2572379,nssv2572360,nssv2572712,nssv2572350,nssv2572719,nssv2572373,nssv2572720,nssv2572354,nssv2572385,nssv2572347,nssv2572715,nssv2572363,nssv2572384,nssv2572724,nssv2572382,nssv2572730,nssv2572381,nssv2572359,nssv2572387,nssv2572355,nssv2572714,nssv2572357,nssv2572706,nssv2572731,nssv2572722,nssv2572364,nssv2572372,nssv2572351,nssv2572711,nssv2572353,nssv2572702,nssv2572726,nssv2572716,nssv2572352,nssv2572699,nssv2572356,nssv2572383,nssv2572367,nssv2572375,nssv2572365,nssv2572710,nssv2572723,nssv2572371,nssv2572349,nssv2572703,nssv2572366,nssv2572378,nssv2572358,nssv2572705,nssv2572727,nssv2572377,nssv2572732,nssv2572701,nssv2572725,nssv2572380,nssv2572369,nssv2572718,nssv2572721,nssv2572345,nssv2572697,nssv2572386,nssv2572370,nssv2572698,nssv2572700,nssv2572709 M 97 10 0 PRAMEF23,PRAMEF5 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545541 1 13060165 13141533 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710218 M 17421 0 1 HNRNPCP5 dgv17n67 1 13065132 13110757 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv829470,nsv829492,nsv829481 M 31 6 0 HNRNPCP5 AK4,AK8,NA18564,NA18566,NA18592,NA18947 nsv545542 1 13065307 13097539 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710219 M 17421 0 1 "" nsv112 1 13082358 13084889 CNV insertion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv112 M 1 1 0 "" NA15510 nsv821333 1 13084311 13142282 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420214 M 1 1 0 HNRNPCP5 NA10851 nsv545543 1 13096696 13101084 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710220 M 17421 0 1 "" nsv1005416 1 13100960 13317257 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473590 M 29084 0 1 HNRNPCP5,PRAMEF15,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv137n54 1 13101084 13141958 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545545,nsv545544 M 17421 0 2 HNRNPCP5 esv8453 1 13101308 13110503 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30894 M 1 0 0 HNRNPCP5 esv3416903 1 13104952 13105350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691778 M 185 1 0 "" NA12878 nsv1004373 1 13108313 13344520 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698784 M 29084 1 0 PRAMEF15,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 esv3430112 1 13108952 13110650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691779 M 185 1 0 "" NA12878 esv987716 1 13134493 13142499 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586238 M 3 1 0 "" HuRef esv3397866 1 13138652 13142350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691780 M 185 1 0 "" NA12878 esv1000242 1 13192500 13241441 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586500 M 3 1 0 PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6 HuRef nsv545546 1 13192573 13195951 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710223 M 17421 0 1 "" dgv138n54 1 13192573 13197404 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545557,nsv545548,nsv545555,nsv545549,nsv545547,nsv545553 M 17421 0 11 "" dgv139n54 1 13192573 13198651 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545558,nsv545550 M 17421 3 0 "" dgv140n54 1 13192573 13198988 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545551,nsv545554,nsv545556 M 17421 0 3 "" esv25471 1 13192634 13372033 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv12571,esv18416,esv18444,esv10590,esv16485,esv12877,esv12763,esv17976,esv15096,esv17726,esv17055,esv20457 M 40 34 11 PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv545552 1 13192946 13196684 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710236,nssv710234,nssv710235,nssv710237 M 17421 1 3 "" nsv945778 1 13199918 13262461 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752501,nssv1752450,nssv1752425,nssv1752480,nssv1752431,nssv1752454,nssv1752423,nssv1752448,nssv1752505,nssv1752513,nssv1752507,nssv1752440,nssv1752449,nssv1752473,nssv1752427,nssv1752479,nssv1752417,nssv1752467,nssv1752416,nssv1752515,nssv1752430,nssv1752489,nssv1752447,nssv1752472,nssv1752437,nssv1752442,nssv1752436,nssv1752493,nssv1752429,nssv1752519,nssv1752503,nssv1752487,nssv1752502,nssv1752498,nssv1752418,nssv1752460,nssv1752426,nssv1752482,nssv1752439,nssv1752514,nssv1752438,nssv1752457,nssv1752500,nssv1752511,nssv1752421,nssv1752483,nssv1752441,nssv1752462,nssv1752504,nssv1752459,nssv1752419,nssv1752471,nssv1752420,nssv1752445,nssv1752506,nssv1752453,nssv1752432,nssv1752516,nssv1752428,nssv1752520,nssv1752508,nssv1752443,nssv1752424,nssv1752495,nssv1752509,nssv1752478,nssv1752446,nssv1752458,nssv1752435,nssv1752474,nssv1752434,nssv1752476,nssv1752463,nssv1752465,nssv1752451,nssv1752492,nssv1752496,nssv1752490,nssv1752491,nssv1752485,nssv1752494,nssv1752469,nssv1752456,nssv1752464,nssv1752481,nssv1752461,nssv1752512,nssv1752518,nssv1752497,nssv1752475,nssv1752517,nssv1752470,nssv1752486,nssv1752415,nssv1752468,nssv1752452,nssv1752484 M 97 10 0 PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv832981 1 13202753 13389999 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442807 M 95 0 1 PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv511155 1 13212653 13218406 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626055 M 1 0 1 "" 1 nsv545559 1 13214498 13218152 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710245 M 17421 0 1 "" nsv472969 1 13215422 13215422 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012443 M 9 1 0 "" NA19129 nsv821207 1 13219599 13301979 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420225 M 1 0 1 PRAMEF15,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 nsv1008245 1 13247920 13344520 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464507,nssv3477492,nssv3698785,nssv3467514,nssv3470021,nssv3470297 M 29084 1 5 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 nsv998907 1 13247920 13677162 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479561 M 29084 1 0 LRRC38,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 esv2762131 1 13247932 13249634 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005005 M 1109 0 1 "" RW_0543 nsv945779 1 13262461 13262961 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752523,nssv1753502,nssv1752533,nssv1752564,nssv1752529,nssv1753508,nssv1752534,nssv1753495,nssv1752553,nssv1752559,nssv1753530,nssv1753496,nssv1752542,nssv1752562,nssv1753523,nssv1753499,nssv1753524,nssv1753514,nssv1752544,nssv1752547,nssv1752537,nssv1753512,nssv1752556,nssv1753520,nssv1753528,nssv1753515,nssv1753532,nssv1752555,nssv1753526,nssv1752561,nssv1752535,nssv1752522,nssv1752552,nssv1753516,nssv1753529,nssv1753521,nssv1752524,nssv1753509,nssv1752546,nssv1753519,nssv1753531,nssv1753505,nssv1752548,nssv1752566,nssv1752539,nssv1753492,nssv1752527,nssv1753497,nssv1752538,nssv1752567,nssv1752528,nssv1753501,nssv1752526,nssv1752549,nssv1753527,nssv1753494,nssv1752536,nssv1753504,nssv1752531,nssv1753498,nssv1753525,nssv1752560,nssv1752530,nssv1752551,nssv1752525,nssv1753513,nssv1752545,nssv1752550,nssv1752541,nssv1753507,nssv1752540,nssv1753518,nssv1753510,nssv1752557,nssv1753503,nssv1753493,nssv1753517,nssv1752563,nssv1753506,nssv1752558 M 97 10 0 PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945780 1 13262961 13400876 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753548,nssv1752852,nssv1753619,nssv1753581,nssv1753545,nssv1753601,nssv1753535,nssv1753585,nssv1753557,nssv1753576,nssv1753549,nssv1753615,nssv1752845,nssv1753590,nssv1753552,nssv1753586,nssv1753618,nssv1752856,nssv1753546,nssv1753596,nssv1753550,nssv1753594,nssv1753553,nssv1752854,nssv1753620,nssv1753611,nssv1752843,nssv1752848,nssv1753556,nssv1753559,nssv1753565,nssv1753614,nssv1753537,nssv1753571,nssv1753554,nssv1753587,nssv1753568,nssv1752850,nssv1753536,nssv1753616,nssv1753622,nssv1753574,nssv1753543,nssv1753561,nssv1753538,nssv1753613,nssv1753541,nssv1753583,nssv1753540,nssv1753584,nssv1753564,nssv1753570,nssv1753547,nssv1753563,nssv1752842,nssv1753578,nssv1753551,nssv1752857,nssv1753539,nssv1753567,nssv1752844,nssv1753597,nssv1753560,nssv1753607,nssv1753558,nssv1753569,nssv1753542,nssv1753575,nssv1752846,nssv1752853,nssv1752847,nssv1753609,nssv1753604,nssv1753608,nssv1753579,nssv1753605,nssv1753603,nssv1753593,nssv1753612,nssv1753572,nssv1753534,nssv1753573,nssv1753591,nssv1753602,nssv1753595,nssv1753592,nssv1753600,nssv1752849,nssv1752851,nssv1753562,nssv1752855,nssv1753580,nssv1753606,nssv1753589,nssv1753617,nssv1753598,nssv1753582 M 97 10 0 PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv1001235 1 13289638 13347927 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586342 M 3 1 0 PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv945566 1 13289766 13293035 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572736,nssv2572766,nssv2572735,nssv2572787,nssv2572807,nssv2572785,nssv2572751,nssv2572802,nssv2572749,nssv2572779,nssv2572805,nssv2572789,nssv2572755,nssv2572801,nssv2572745,nssv2572794,nssv2572762,nssv2572795,nssv2572763,nssv2572792,nssv2572809,nssv2572775,nssv2572752,nssv2572768,nssv2572808,nssv2572757,nssv2572758,nssv2572772,nssv2572737,nssv2572773,nssv2572744,nssv2572777,nssv2572810,nssv2572781,nssv2572743,nssv2572791,nssv2572742,nssv2572803,nssv2572739,nssv2572796,nssv2572806,nssv2572799,nssv2572747,nssv2572797,nssv2572740,nssv2572788,nssv2572756,nssv2572776,nssv2572734,nssv2572760,nssv2572748,nssv2572778,nssv2572812,nssv2572784,nssv2572804,nssv2572769,nssv2572753,nssv2572790,nssv2572741,nssv2572793,nssv2572811,nssv2572764,nssv2572765,nssv2572733,nssv2572754,nssv2572780,nssv2572813,nssv2572783,nssv2572750,nssv2572771,nssv2572746,nssv2572800,nssv2572759,nssv2572786,nssv2572774,nssv2572782,nssv2572767,nssv2572770,nssv2572761,nssv2572798 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3417900 1 13295952 13297250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691781 M 185 1 0 PRAMEF15,PRAMEF9 NA12878 nsv442562 1 13317495 13340609 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617366,nssv1617381,nssv1617373,nssv1617364,nssv1617398,nssv1617365,nssv1617362,nssv1617374,nssv1617396,nssv1617393,nssv1617397,nssv1617388,nssv1617390,nssv1617359,nssv1617363,nssv1617367,nssv1617335,nssv1617386,nssv1617356,nssv1617377,nssv1617376,nssv1617382,nssv1617370,nssv1617360,nssv1617394,nssv1617389,nssv1617355,nssv1617324,nssv1617372,nssv1617395,nssv1617346,nssv1617385,nssv1617371,nssv1617361,nssv1617383,nssv1617401,nssv1617379,nssv1617375,nssv1617384,nssv1617387,nssv1617378,nssv1617368,nssv1617357,nssv1617399,nssv1617400 M 270 4 41 "" NA07019,NA07022,NA07056,NA10847,NA12003,NA12004,NA12239,NA18526,NA18529,NA18540,NA18542,NA18550,NA18555,NA18563,NA18564,NA18566,NA18570,NA18573,NA18577,NA18579,NA18592,NA18603,NA18612,NA18621,NA18622,NA18624,NA18633,NA18635,NA18636,NA18637,NA18940,NA18947,NA18948,NA18952,NA18964,NA18969,NA18971,NA18978,NA18990,NA18992,NA18995,NA18998,NA19005,NA19119,NA19120 esv1751185 1 13341076 13341129 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3633436 M 2 0 1 "" HuRef nsv545560 1 13362398 13362648 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710246 M 17421 0 1 "" nsv8879 1 13392625 13404986 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv28030 M 31 1 0 PRAMEF20,PRAMEF21 NA10847 nsv8991 1 13419392 13622373 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv12759,nssv15094,nssv13082,nssv28534,nssv13095,nssv12432,nssv15119,nssv12774,nssv15108,nssv12100,nssv14743,nssv12423,nssv12430,nssv13427,nssv12760,nssv28925,nssv29273,nssv12436,nssv11788,nssv11786,nssv14413,nssv12106,nssv14734,nssv13759,nssv12104,nssv12756,nssv14419,nssv12771,nssv14404,nssv13101,nssv14759,nssv13758,nssv12110,nssv13111,nssv12114,nssv12431,nssv12102,nssv12434,nssv12781,nssv13425,nssv13097,nssv28942,nssv14418,nssv14088,nssv28924,nssv12451,nssv11787,nssv13440,nssv12764,nssv11784,nssv28537,nssv14748,nssv13110,nssv12442,nssv15443,nssv13757,nssv13412,nssv29272,nssv14087,nssv15773,nssv28536,nssv14089,nssv16103,nssv12444,nssv16433,nssv13094,nssv13755 M 31 30 7 PRAMEF13,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv508137 1 13423878 13644737 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618967 M 4 0 1 PRAMEF13,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA10860 esv24967 1 13426574 13429455 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv20195,esv13012 M 40 2 0 "" NA12878,NA18907 nsv945782 1 13479686 13486055 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752868,nssv1753809,nssv1753861,nssv1753815,nssv1752859,nssv1753857,nssv1752875,nssv1753873,nssv1753804,nssv1753821,nssv1752865,nssv1753807,nssv1753868,nssv1753848,nssv1753865,nssv1753845,nssv1753803,nssv1753817,nssv1753866,nssv1753858,nssv1753811,nssv1753850,nssv1752867,nssv1753841,nssv1753800,nssv1753874,nssv1753801,nssv1753828,nssv1753864,nssv1753876,nssv1753862,nssv1753814,nssv1752873,nssv1753831,nssv1753813,nssv1753838,nssv1753802,nssv1753852,nssv1752870,nssv1752858,nssv1753859,nssv1753830,nssv1752872,nssv1753808,nssv1753867,nssv1753818,nssv1752860,nssv1753822,nssv1753860,nssv1753834,nssv1752861,nssv1753844,nssv1752869,nssv1753853,nssv1753810,nssv1753877,nssv1752863,nssv1753842,nssv1752874,nssv1753827,nssv1752862,nssv1753836,nssv1753863,nssv1753846,nssv1752864,nssv1753870,nssv1752866,nssv1753869,nssv1752871,nssv1753833,nssv1753806,nssv1753878,nssv1753851,nssv1753856,nssv1753823,nssv1753854,nssv1753812,nssv1753820,nssv1753816,nssv1753819,nssv1753826,nssv1753872,nssv1753832,nssv1753824,nssv1753855,nssv1753843,nssv1753837,nssv1753840,nssv1753835,nssv1753871,nssv1753805,nssv1753847,nssv1753829,nssv1753849,nssv1753839,nssv1753875,nssv1753825 M 97 10 0 PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv820708 1 13479789 13525723 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420236 M 1 0 1 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 esv29915 1 13479789 13595707 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv16637,esv15458,esv16388,esv14244,esv11807,esv10843 M 40 34 5 PRAMEF13,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv141n54 1 13479839 13547506 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545562,nsv545563,nsv545561 M 17421 0 3 PRAMEF13,PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 nsv545564 1 13485321 13579500 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710250 M 17421 0 1 PRAMEF13,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 nsv945784 1 13486055 13489387 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753896,nssv1753947,nssv1753951,nssv1753920,nssv1753884,nssv1753923,nssv1753880,nssv1753942,nssv1753887,nssv1753934,nssv1753910,nssv1753948,nssv1753882,nssv1753917,nssv1753900,nssv1753936,nssv1753893,nssv1753922,nssv1753958,nssv1753926,nssv1753894,nssv1753902,nssv1753950,nssv1753944,nssv1753908,nssv1753911,nssv1753955,nssv1753935,nssv1753897,nssv1753928,nssv1753885,nssv1753945,nssv1753954,nssv1753938,nssv1753901,nssv1753904,nssv1753889,nssv1753924,nssv1753898,nssv1753930,nssv1753952,nssv1753925,nssv1753949,nssv1753906,nssv1753891,nssv1753914,nssv1753956,nssv1753943,nssv1753881,nssv1753929,nssv1753892,nssv1753879,nssv1753899,nssv1753932,nssv1753907,nssv1753905,nssv1753888,nssv1753941,nssv1753957,nssv1753909,nssv1753890,nssv1753931,nssv1753886,nssv1753933,nssv1753953,nssv1753939,nssv1753895,nssv1753913,nssv1753883,nssv1753918,nssv1753903,nssv1753915,nssv1753927,nssv1753940,nssv1753912,nssv1753916,nssv1753937,nssv1753919,nssv1753946,nssv1753921 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545565 1 13489499 13512309 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710251 M 17421 0 1 "" nsv545566 1 13499347 13543636 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710252 M 17421 0 1 PRAMEF13,PRAMEF15,PRAMEF9 nsv945785 1 13499713 13621713 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753977,nssv1754024,nssv1753987,nssv1754020,nssv1754041,nssv1753999,nssv1754043,nssv1754032,nssv1754038,nssv1753996,nssv1754045,nssv1754055,nssv1753965,nssv1754017,nssv1753961,nssv1754026,nssv1753960,nssv1753984,nssv1754042,nssv1753993,nssv1753963,nssv1753998,nssv1753971,nssv1753997,nssv1753980,nssv1754009,nssv1753976,nssv1754014,nssv1753973,nssv1754048,nssv1753962,nssv1753992,nssv1754037,nssv1753982,nssv1753969,nssv1754031,nssv1753978,nssv1754029,nssv1753981,nssv1754034,nssv1753990,nssv1754028,nssv1753968,nssv1754003,nssv1753970,nssv1754006,nssv1754044,nssv1754012,nssv1753979,nssv1754000,nssv1754039,nssv1754053,nssv1753974,nssv1754016,nssv1753988,nssv1754001,nssv1753964,nssv1754025,nssv1753972,nssv1754050,nssv1753967,nssv1754022,nssv1754036,nssv1754027,nssv1754040,nssv1754015,nssv1753966,nssv1754051,nssv1753975,nssv1754018,nssv1753983,nssv1754008,nssv1753991,nssv1754002,nssv1754011,nssv1754010,nssv1754019,nssv1754052,nssv1754047,nssv1754007,nssv1753985,nssv1754005,nssv1754030,nssv1753994,nssv1754035,nssv1753989,nssv1754054,nssv1754021,nssv1753995,nssv1754046,nssv1754004,nssv1753986,nssv1754023,nssv1754033,nssv1753959,nssv1754013,nssv1754049 M 97 10 0 PRAMEF13,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF9 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv987523 1 13509546 13569151 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586687 M 3 1 0 PRAMEF13,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv945568 1 13510594 13513863 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2568948,nssv2568924,nssv2572817,nssv2568923,nssv2568875,nssv2568937,nssv2568873,nssv2568915,nssv2568946,nssv2568898,nssv2568881,nssv2568934,nssv2568943,nssv2568902,nssv2568869,nssv2568906,nssv2568882,nssv2568901,nssv2568894,nssv2568903,nssv2568939,nssv2568938,nssv2572816,nssv2568897,nssv2568877,nssv2568905,nssv2568884,nssv2568914,nssv2568879,nssv2568930,nssv2568870,nssv2568921,nssv2568942,nssv2568917,nssv2568880,nssv2568935,nssv2572818,nssv2568927,nssv2568893,nssv2568920,nssv2568883,nssv2568904,nssv2572819,nssv2568912,nssv2568945,nssv2568936,nssv2568874,nssv2568907,nssv2568886,nssv2568918,nssv2568885,nssv2568932,nssv2568871,nssv2568928,nssv2568876,nssv2568909,nssv2568896,nssv2568891,nssv2572815,nssv2568916,nssv2568947,nssv2568931,nssv2568941,nssv2568895,nssv2568888,nssv2568892,nssv2568872,nssv2568887,nssv2568949,nssv2568890,nssv2568940,nssv2568908,nssv2568925,nssv2568910,nssv2568926,nssv2568899,nssv2568913,nssv2568919,nssv2568929,nssv2572814 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3365276 1 13556552 13559450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691782 M 185 1 0 "" NA12878 esv3430097 1 13560152 13562450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691783 M 185 1 0 "" NA12891 nsv9102 1 13635069 13654782 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv12762,nssv13431,nssv13441,nssv15449,nssv13770 M 31 1 4 "" NA18502,NA18860,NA19173,NA19221,NA19240 esv27160 1 13646671 13650046 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17463 M 40 0 4 "" NA18523,NA18858,NA19240,NA19257 nsv829503 1 13646704 13647506 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1425488 M 31 1 0 "" AK4 esv2421816 1 13647613 13649415 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5129509,essv5122714,essv5030554,essv5159320,essv5014986,essv5054861,essv5052409,essv5124207,essv5088842,essv5140759,essv5119368,essv5119113,essv5104141,essv5008201,essv5152549,essv5054130,essv5040208,essv5113057,essv5055935,essv5115047,essv5136291,essv5081621,essv5074912,essv5156754,essv5112792,essv5003662,essv5119297,essv5149288,essv5133703,essv5057582,essv5037812,essv5012309,essv5153639,essv5085452,essv5103764,essv5160977,essv5101761,essv5078655,essv5059200,essv5089793,essv5113322,essv5115799,essv5063651,essv5043697,essv5146662,essv5029052,essv5093159,essv5058297,essv5038344,essv5019707,essv5130030,essv5087732,essv5138283,essv5154357,essv5020433,essv5113231,essv5154618,essv5089820,essv5068630,essv5084227,essv5148013,essv5116299,essv5145851,essv5130729,essv5037910,essv5062851,essv5101907,essv5152519,essv5078647,essv5130132,essv5051994,essv5141839,essv5154171,essv5047739,essv5113890,essv5153368,essv5070195,essv5022297,essv5053308 M 1184 0 79 "" NA12340,NA18486,NA18497,NA18498,NA18500,NA18515,NA18516,NA18520,NA18858,NA18860,NA18910,NA19027,NA19028,NA19095,NA19097,NA19107,NA19109,NA19117,NA19137,NA19153,NA19154,NA19172,NA19173,NA19174,NA19197,NA19199,NA19206,NA19209,NA19210,NA19211,NA19239,NA19240,NA19257,NA19258,NA19307,NA19321,NA19381,NA19382,NA19403,NA19429,NA19438,NA19449,NA19451,NA19452,NA19463,NA19466,NA19468,NA19471,NA19474,NA20282,NA20297,NA20301,NA20332,NA20335,NA20348,NA20521,NA20768,NA20796,NA20799,NA20894,NA20906,NA21344,NA21359,NA21366,NA21381,NA21383,NA21399,NA21401,NA21402,NA21404,NA21405,NA21473,NA21520,NA21596,NA21608,NA21614,NA21616,NA21686,NA21740 esv2504117 1 13668926 13669517 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5309749 M 1 1 0 "" NA18507 nsv833092 1 13677506 13836511 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442829,nssv1442818 M 95 0 2 LRRC38,PDPN nsv518971 1 13678626 13688708 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696439 M 2026 0 1 LRRC38 esv2376333 1 13721094 13721453 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4939438 M 1 0 1 "" NA18507 esv1009061 1 13721194 13721194 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570627 M 3 1 0 "" HuRef nsv545567 1 13757866 14225658 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710253 M 17421 1 0 PDPN,PRDM2 esv2417844 1 13766904 13767355 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4564737 M 1 0 1 "" NA18507 nsv460483 1 13776302 13789584 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537046 M 1557 0 1 PDPN 1780854159_A nsv545568 1 13776302 13789584 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173768 M 17421 0 1 PDPN 1780854159_A esv3372731 1 13812605 13812620 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898631,essv8898633,essv8898638,essv8898637,essv8898630,essv8898634,essv8898632,essv8898635 M 185 8 0 PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 esv3306243 1 13812606 13812607 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7749286,essv7740627,essv7750527,essv7760129,essv7760282,essv7752856,essv7761514,essv7754869 M 185 8 0 PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 nsv3076 1 13826780 13857121 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv474 M 9 1 0 "" NA19240 nsv528139 1 13845837 13861814 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704685 M 2026 0 1 "" esv1349671 1 13857506 13857506 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4353969 M 2 1 0 "" HuRef nsv523568 1 13864656 13877210 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699350 M 2026 0 1 "" nsv3187 1 13864926 13910233 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7852 M 9 0 1 PRDM2 NA12156 nsv474268 1 13949530 13949530 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012404 M 9 1 0 PRDM2 NA18507 nsv473350 1 14006486 14006486 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018587 M 9 1 0 PRDM2 NA19129 esv22539 1 14035627 14039603 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19106,esv16966 M 40 0 10 "" NA18505,NA18511,NA18517,NA18858,NA18907,NA18909,NA19099,NA19147,NA19225,NA19257 nsv508007 1 14057508 14063508 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621465,nssv618491 M 4 0 0 "" CHM,NA15510 nsv516549 1 14081075 14081923 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv669085,nssv690011 M 2026 0 2 "" nsv516435 1 14157047 14159051 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv681150,nssv668340,nssv683301 M 2026 0 3 "" esv35099 1 14167192 14242955 CNV gain Pinto_et_al_2007 17911159 SNP array essv6986978,essv6979949 M 771 2 0 "" NA18863 esv24677 1 14167906 14168414 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16259 M 40 0 1 "" NA19257 esv2758923 1 14177669 14244987 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756836 M 270 2 0 "" NA18861,NA18863 dgv34n100 1 14179094 14243332 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006184,nsv1011918,nsv1009457,nsv1000636,nsv1004214,nsv1001764 M 29084 9 0 "" esv27027 1 14184196 14244173 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13313 M 40 1 0 "" NA18861 esv2764228 1 14185861 14243344 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7005006,essv7005007,essv7005008 M 1109 3 0 "" RW_0186,RW_0292,RW_0330 nsv545569 1 14186067 14243724 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710254 M 17421 1 0 "" nsv524444 1 14186067 14243762 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv700376 M 2026 1 0 "" nsv517840 1 14204527 14210431 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695245 M 2026 0 1 "" esv1011257 1 14213421 14222133 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563991 M 3 0 1 "" HuRef esv2573663 1 14308679 14311820 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5360365 M 1 0 1 "" NA18507 nsv819952 1 14308680 14311417 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419473 M 2 0 1 "" AK1 nsv829514 1 14308848 14309351 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431794 M 31 0 1 "" AK20 esv3305958 1 14308895 14308896 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7748233,essv7762927,essv7744901,essv7760986,essv7758997,essv7753864,essv7745094,essv7743378,essv7742210,essv7742581,essv7762379,essv7752181,essv7748195,essv7762098,essv7756760,essv7761199,essv7746231,essv7749698,essv7741926,essv7758820,essv7753211,essv7754514,essv7742010,essv7756552,essv7751856,essv7740898,essv7757903,essv7740359,essv7756960,essv7756116,essv7745613,essv7746649,essv7757610,essv7752332,essv7740711,essv7753507,essv7757452,essv7742692,essv7759946,essv7756467,essv7749458,essv7746996,essv7744194,essv7747825,essv7750960,essv7749958,essv7751546,essv7747376,essv7759328,essv7758154 M 185 50 0 "" NA06986,NA07000,NA07051,NA11920,NA11995,NA12043,NA12249,NA12750,NA12776,NA18501,NA18507,NA18508,NA18510,NA18516,NA18519,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18870,NA18912,NA18940,NA18951,NA18960,NA18964,NA19005,NA19093,NA19099,NA19114,NA19129,NA19137,NA19138,NA19225 esv3338675 1 14308895 14308903 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898691,essv8898693,essv8898664,essv8898662,essv8898667,essv8898688,essv8898663,essv8898668,essv8898674,essv8898694,essv8898659,essv8898644,essv8898648,essv8898651,essv8898661,essv8898673,essv8898652,essv8898684,essv8898679,essv8898657,essv8898654,essv8898675,essv8898660,essv8898690,essv8898676,essv8898666,essv8898689,essv8898686,essv8898650,essv8898645,essv8898678,essv8898672,essv8898682,essv8898640,essv8898643,essv8898653,essv8898680,essv8898671,essv8898687,essv8898656,essv8898677,essv8898646,essv8898642,essv8898683,essv8898655,essv8898649,essv8898685,essv8898639,essv8898665,essv8898641 M 185 50 0 "" NA06986,NA07000,NA07051,NA11920,NA11995,NA12043,NA12249,NA12750,NA12776,NA18501,NA18507,NA18508,NA18510,NA18516,NA18519,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18870,NA18912,NA18940,NA18951,NA18960,NA18964,NA19005,NA19093,NA19099,NA19114,NA19129,NA19137,NA19138,NA19225 esv22693 1 14308898 14311535 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17238 M 40 0 21 "" NA11931,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 dgv142n54 1 14308955 14310800 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545570,nsv545571 M 17421 0 2 "" dgv143n54 1 14308955 14311484 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545572,nsv545575,nsv545573,nsv545574 M 17421 0 14 "" esv6543 1 14309425 14311766 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28984 M 1 0 0 "" dgv144n54 1 14309548 14311484 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545578,nsv545579,nsv545576,nsv545580,nsv545581,nsv545582,nsv545577 M 17421 0 212 "" esv3429 1 14309627 14311615 CNV loss Wang_et_al_2008 18987735 Sequencing essv25870 M 1 0 1 "" YH dgv18n67 1 14309636 14310701 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv829537,nsv829525 M 31 0 2 "" NA18547,NA18949 nsv829548 1 14309636 14311391 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1436328,nssv1434861,nssv1432529,nssv1437928,nssv1428816,nssv1423109,nssv1426373,nssv1421444,nssv1430332,nssv1423978,nssv1433411,nssv1440802,nssv1431795,nssv1423396,nssv1434158,nssv1440119,nssv1431058,nssv1422359,nssv1423945,nssv1432008 M 31 0 20 "" AK12,AK16,AK18,AK20,AK6,NA18526,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 dgv145n54 1 14310146 14311629 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545583,nsv545584,nsv545586,nsv545585 M 17421 0 11 "" esv2764190 1 14328335 14337539 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005012,essv7005014,essv7005013,essv7005009,essv7005015,essv7005010 M 1109 0 6 "" RW_0018,RW_0042,RW_0067,RW_0142,RW_0189,RW_0518 esv3367782 1 14369815 14369815 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740936 M 185 1 0 "" NA19240 nsv528033 1 14413899 14418596 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704564 M 2026 0 1 "" nsv460494 1 14549496 14576441 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537055 M 1557 0 1 "" 1780862466_A nsv545587 1 14549496 14576441 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173769 M 17421 0 1 "" 1780862466_A nsv520614 1 14550316 14551313 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697519 M 2026 0 1 "" nsv518697 1 14550316 14561294 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696148 M 2026 0 1 "" nsv833203 1 14551787 14593526 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442840,nssv1442940,nssv1442863,nssv1442852,nssv1442907,nssv1442896,nssv1442885,nssv1442874,nssv1442918,nssv1442929 M 95 5 5 "" esv2617537 1 14611089 14612630 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5289167 M 1 0 1 "" NA18507 esv3360411 1 14691683 14692497 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652043 M 185 1 0 "" NA19240 nsv512719 1 14691762 14691812 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625344 M 1 1 0 "" 1 esv1086173 1 14713592 14713592 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4139423 M 2 1 0 "" HuRef nsv833314 1 14771742 14941463 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442951 M 95 0 1 KAZN nsv460506 1 14779801 14854507 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537067 M 1557 0 1 KAZN HGDP00554 nsv545588 1 14779801 14854507 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173770 M 17421 0 1 KAZN HGDP00554 nsv3298 1 14784894 14812073 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7914 M 9 1 0 KAZN NA12156 nsv473059 1 14819856 14819856 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017325 M 9 1 0 KAZN NA19129 dgv35n100 1 14826875 15097331 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001102,nsv1014029 M 29084 2 0 KAZN nsv470697 1 14832760 14917383 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547709 M 443 1 0 KAZN HGDP00890 esv2637393 1 14851169 14852148 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5269600 M 1 1 0 KAZN NA18507 esv1497348 1 14851595 14851595 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3929982 M 2 1 0 KAZN HuRef nsv476853 1 14899946 14899946 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020114 M 9 1 0 KAZN NA12878 nsv478373 1 14951249 14951249 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018566 M 9 1 0 KAZN NA18507 nsv545589 1 14962354 15034937 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710494 M 17421 0 1 KAZN nsv475615 1 14967854 14967854 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013409 M 9 1 0 KAZN NA12878 nsv1001770 1 14978644 15021758 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481126 M 29084 0 1 KAZN nsv545590 1 14984514 15034937 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710495 M 17421 0 1 KAZN esv8986 1 14986139 14986338 CNV gain Ahn_et_al_2009 19470904 Sequencing essv31427 M 1 0 0 KAZN esv1214811 1 15067050 15067050 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4234331 M 2 1 0 KAZN HuRef esv3348016 1 15067058 15067058 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701356 M 185 1 0 KAZN NA12878 nsv545591 1 15079598 15329506 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710496 M 17421 0 1 KAZN,TMEM51-AS1 nsv1008761 1 15085478 15149113 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482225 M 29084 1 0 KAZN nsv820102 1 15128849 15133915 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419679 M 2 1 0 KAZN AK1 esv23718 1 15147508 15152160 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11412 M 40 0 1 KAZN NA19099 nsv441681 1 15149071 15151883 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656587,nssv1656585,nssv1656586 M 270 0 3 KAZN NA18913,NA18914,NA19099 esv2761573 1 15161797 15189817 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv6994411 M 1109 1 0 KAZN SW_0857 esv27978 1 15199262 15199882 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13462 M 40 0 1 KAZN NA19190 nsv520075 1 15213642 15214000 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697211 M 2026 0 1 KAZN nsv527648 1 15213642 15215681 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704119 M 2026 0 1 KAZN nsv517844 1 15213642 15216990 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695248 M 2026 0 1 KAZN nsv521566 1 15215681 15219950 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698183 M 2026 1 0 KAZN nsv545592 1 15217523 15250274 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710497 M 17421 0 1 KAZN esv22036 1 15237554 15238209 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11732 M 40 0 1 KAZN NA12776 esv1011013 1 15237876 15237985 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577254 M 3 0 1 KAZN HuRef esv1748933 1 15237878 15237988 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3823225 M 2 0 1 KAZN HuRef esv1186245 1 15238026 15238026 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3944374 M 2 1 0 KAZN HuRef esv2313486 1 15247610 15248022 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4985131 M 1 0 1 KAZN NA18507 nsv833425 1 15282413 15490811 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442963 M 95 1 0 C1orf195,FHAD1,KAZN,TMEM51,TMEM51-AS1 nsv508913 1 15291473 15364544 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619772 M 4 1 0 C1orf195,KAZN,TMEM51,TMEM51-AS1 NA10860 esv2618588 1 15309351 15309417 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5193142 M 1 0 1 KAZN NA18507 esv22618 1 15328730 15333595 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15067 M 40 0 1 TMEM51-AS1 NA18502 nsv437203 1 15360031 15362911 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467084 M 60 0 1 TMEM51 NA19103 esv2764256 1 15361772 15362873 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005018,essv7005019,essv7005020,essv7005017,essv7005016 M 1109 0 5 TMEM51 RW_0012,RW_0222,RW_0231,RW_0281,RW_0601 nsv441682 1 15361772 15362873 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656591,nssv1656589,nssv1656588,nssv1656590 M 270 0 4 TMEM51 NA19102,NA19103,NA19206,NA19208 nsv519926 1 15362404 15362471 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv687857,nssv659518,nssv689561,nssv690383 M 2026 0 4 TMEM51 nsv159446 1 15373466 15383249 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178024 M 24 TMEM51 nsv1005708 1 15388886 15423112 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473940 M 29084 1 0 TMEM51 nsv460550 1 15391379 15423112 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537098 M 1557 1 0 TMEM51 HGDP00863 nsv545593 1 15391379 15423112 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173771 M 17421 1 0 TMEM51 HGDP00863 esv2750811 1 15402847 15423112 CNV gain Pinto_et_al_2007 17911159 SNP array essv6981605,essv6985613,essv6981606 M 771 3 0 TMEM51 BEC_304 nsv1012018 1 15411846 15426351 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472900 M 29084 1 0 TMEM51 esv2621292 1 15423576 15424577 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5251821 M 1 1 0 "" NA18507 esv2423211 1 15429819 15431734 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5345612 M 1 0 1 "" NA18507 esv28285 1 15448819 15450699 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15216 M 40 0 1 FHAD1 NA12749 esv27394 1 15453912 15454965 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14001 M 40 1 0 FHAD1 NA18861 nsv517234 1 15458200 15466253 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv678288,nssv691051,nssv669267,nssv654089 M 2026 4 0 FHAD1 esv2762133 1 15472394 15474623 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005021 M 1109 0 1 FHAD1 RW_0544 nsv472480 1 15475141 15475141 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014170 M 9 1 0 FHAD1 NA18555 esv2508152 1 15513246 15514137 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5282605 M 1 1 0 FHAD1 NA18507 nsv833536 1 15522588 15727912 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442985,nssv1442974 M 95 0 2 CASP9,CELA2A,CELA2B,CTRC,DNAJC16,EFHD2,FHAD1 nsv1007255 1 15529729 15551428 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475158 M 29084 0 1 FHAD1 nsv460561 1 15559646 15622804 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537108 M 1557 0 1 EFHD2,FHAD1 NINDS_60 nsv545594 1 15559646 15622804 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173772 M 17421 0 1 EFHD2,FHAD1 NINDS_60 nsv475629 1 15578383 15578383 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016316 M 9 1 0 FHAD1 NA12878 nsv478487 1 15583885 15583885 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014816 M 9 1 0 FHAD1 NA18507 esv2117572 1 15644908 15645240 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4687770 M 1 0 1 CTRC NA18507 esv2761582 1 15656358 15674082 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv6994522 M 1109 0 1 CELA2A SW_1130 nsv945786 1 15662519 15665863 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754067,nssv1754097,nssv1754057,nssv1755501,nssv1754068,nssv1755485,nssv1754060,nssv1754092,nssv1754061,nssv1755484,nssv1754077,nssv1755503,nssv1755511,nssv1754102,nssv1754073,nssv1755483,nssv1754062,nssv1755489,nssv1754070,nssv1754082,nssv1755510,nssv1755517,nssv1755513,nssv1755496,nssv1755508,nssv1755492,nssv1754075,nssv1755486,nssv1754074,nssv1755499,nssv1754087,nssv1754104,nssv1754065,nssv1755522,nssv1754066,nssv1754099,nssv1754058,nssv1754093,nssv1754064,nssv1754103,nssv1754059,nssv1755498,nssv1755515,nssv1754101,nssv1755514,nssv1755505,nssv1755509,nssv1755516,nssv1754071,nssv1755519,nssv1755507,nssv1754095,nssv1755512,nssv1754096,nssv1754085,nssv1755524,nssv1754069,nssv1754090,nssv1754078,nssv1754094,nssv1754084,nssv1754081,nssv1755506,nssv1754100,nssv1754072,nssv1755504,nssv1754076,nssv1755495,nssv1754063,nssv1754106,nssv1754080,nssv1755488,nssv1755523,nssv1755494,nssv1754089,nssv1754083,nssv1755521,nssv1755491,nssv1754086,nssv1755493,nssv1755497,nssv1755490,nssv1755518,nssv1754098,nssv1754088,nssv1755525,nssv1755487,nssv1754105,nssv1754079,nssv1755520,nssv1754107,nssv1754056,nssv1755482,nssv1755502,nssv1755500,nssv1755481,nssv1754091 M 97 10 0 CELA2A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv441683 1 15665011 15683808 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656594,nssv1656593,nssv1656592,nssv1656595 M 270 0 4 CELA2A,CELA2B NA12865,NA12875,NA18959,NA18981 nsv818056 1 15669395 15681459 CNV loss Wang_et_al_2007 17921354 SNP array nssv1415731,nssv1415732 M 112 0 2 CELA2A,CELA2B NA12865,NA12875 esv29612 1 15785729 15786199 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv18278 M 40 1 0 "" NA19240 nsv945787 1 15803039 15804349 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755550,nssv1755552,nssv1755607,nssv1755563,nssv1755539,nssv1755553,nssv1755554,nssv1755585,nssv1755548,nssv1755566,nssv1755557,nssv1755568,nssv1755541,nssv1755574,nssv1755532,nssv1755578,nssv1755527,nssv1755576,nssv1755542,nssv1755599,nssv1755608,nssv1755571,nssv1755538,nssv1755598,nssv1755530,nssv1755582,nssv1755547,nssv1755597,nssv1755529,nssv1755619,nssv1755611,nssv1755579,nssv1755605,nssv1755581,nssv1755543,nssv1755567,nssv1755610,nssv1755577,nssv1755546,nssv1755593,nssv1755535,nssv1755561,nssv1755555,nssv1755572,nssv1755604,nssv1755565,nssv1755533,nssv1755586,nssv1755537,nssv1755556,nssv1755612,nssv1755562,nssv1755545,nssv1755600,nssv1755531,nssv1755614,nssv1755536,nssv1755526,nssv1755606,nssv1755587,nssv1755534,nssv1755583,nssv1755609,nssv1755594,nssv1755603,nssv1755589,nssv1755528,nssv1755569,nssv1755544,nssv1755558,nssv1755540,nssv1755602,nssv1755592,nssv1755616,nssv1755596,nssv1755613,nssv1755595,nssv1755570,nssv1755621,nssv1755573,nssv1755549,nssv1755618,nssv1755588,nssv1755601,nssv1755560,nssv1755591,nssv1755620,nssv1755617,nssv1755575,nssv1755564,nssv1755551,nssv1755559,nssv1755622,nssv1755590,nssv1755615,nssv1755584,nssv1755580 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv471769 1 15805560 15811009 CNV loss Hinds_et_al_2006 16327809 Oligo aCGH,PCR nssv646050 M 95 "" esv3302757 1 15817244 15819632 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7733047 M 185 0 0 DDI2 NA18501 nsv1006877 1 15841197 15906788 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698786 M 29084 1 0 DDI2,PLEKHM2,RSC1A1 nsv524044 1 15874175 16034423 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699908 M 2026 0 1 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,TMEM82,UQCRHL esv28978 1 15882131 15883977 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv21090 M 40 1 0 PLEKHM2 NA06985 nsv545595 1 15882443 15883081 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710499,nssv710498 M 17421 1 1 "" dgv146n54 1 15882443 15883346 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545596,nsv545603,nsv545597 M 17421 0 3 "" dgv147n54 1 15882443 15883663 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545598,nsv545599 M 17421 11 2 PLEKHM2 dgv148n54 1 15882443 15883925 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545601,nsv545600 M 17421 6 0 PLEKHM2 nsv545602 1 15882545 15883169 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710521 M 17421 0 1 "" dgv149n54 1 15882649 15883866 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545610,nsv545609,nsv545604,nsv545611 M 17421 0 5 PLEKHM2 nsv545605 1 15882702 15883412 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710524 M 17421 0 1 "" dgv150n54 1 15882702 15883925 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545608,nsv545606,nsv545607 M 17421 7 0 PLEKHM2 nsv545612 1 15883081 15883925 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710536 M 17421 1 0 PLEKHM2 nsv545613 1 15883081 15888371 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710537 M 17421 0 1 PLEKHM2 dgv151n54 1 15885244 15967903 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545616,nsv545615,nsv545614 M 17421 3 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160,HGDP00163 dgv11n27 1 15888573 15967903 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460572,nsv460583 M 1557 2 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160 nsv508925 1 15916178 16002655 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619773 M 4 1 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 NA10860 nsv545617 1 15920592 15969824 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173776 M 17421 0 1 FBLIM1,PLEKHM2,SLC25A34,TMEM82 1780862275_A nsv460594 1 15948493 15998794 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537135 M 1557 0 1 FBLIM1 NINDS_70 nsv545618 1 15948493 15998794 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173777 M 17421 0 1 FBLIM1 NINDS_70 nsv527046 1 15959847 15983402 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703422 M 2026 0 1 FBLIM1 nsv945788 1 15991944 15995104 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755645,nssv1754998,nssv1755652,nssv1754997,nssv1755651,nssv1754991,nssv1755028,nssv2568954,nssv1756093,nssv1754985,nssv1755647,nssv1756105,nssv1755029,nssv1754993,nssv1756097,nssv2568961,nssv1755635,nssv2568950,nssv1755624,nssv2568958,nssv1755638,nssv2568967,nssv1755632,nssv1755648,nssv1755639,nssv2568962,nssv1755030,nssv1755002,nssv1756096,nssv1754994,nssv1756094,nssv2568951,nssv1755644,nssv1755014,nssv1755627,nssv1754996,nssv1755636,nssv1755015,nssv1755629,nssv1754992,nssv1755643,nssv1754986,nssv1755633,nssv1755016,nssv1756095,nssv1755623,nssv1755637,nssv1755007,nssv1755630,nssv1754984,nssv1755642,nssv1755000,nssv1755031,nssv1755009,nssv1755654,nssv2568956,nssv1755625,nssv1755018,nssv1755634,nssv1755013,nssv1755628,nssv1756099,nssv1755640,nssv1754989,nssv1755631,nssv1756104,nssv1755626,nssv1755650,nssv1756098,nssv1756107,nssv1755641,nssv2568959,nssv2568963,nssv2568964,nssv1755027,nssv1754990,nssv1755006,nssv1755019,nssv1755649,nssv1755024,nssv2568953,nssv1756102,nssv1756100,nssv1755655,nssv2568952,nssv1755023,nssv1755653,nssv1755012,nssv1755011,nssv1755004,nssv1756108,nssv1755001,nssv1755021,nssv1756103,nssv2568968,nssv1755005,nssv1755017,nssv2568960,nssv1755026,nssv1754995,nssv1755010,nssv2568957,nssv1754999,nssv1756106,nssv1755003,nssv1755025,nssv1754988,nssv1755022,nssv1755646,nssv1755008,nssv2568965,nssv1755020,nssv1756101,nssv1754987 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv833647 1 15993124 16151416 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442996 M 95 0 1 FLJ37453,SPEN,UQCRHL,ZBTB17 nsv1002667 1 15997156 16008361 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465075 M 29084 1 0 UQCRHL esv2758924 1 16000067 16027694 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756837 M 270 0 2 UQCRHL NA07019,NA12815 nsv545619 1 16002028 16033976 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710538 M 17421 0 1 FLJ37453,UQCRHL dgv36n100 1 16004406 16027585 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010221,nsv1006630,nsv1005130,nsv1011909,nsv999232 M 29084 7 0 UQCRHL nsv3409 1 16009070 16051776 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8042 M 9 0 1 FLJ37453,SPEN NA12156 nsv511126 1 16021888 16034423 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626032 M 1 0 1 FLJ37453 1 dgv37n100 1 16022490 16123120 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011973,nsv1002341,nsv1008828,nsv1001014,nsv1011856,nsv1005322,nsv1006258,nsv1000044,nsv1005932 M 29084 14 0 FLJ37453,SPEN esv3584590 1 16022502 16027597 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9838024,essv9838025,essv9838026 M 34 0 3 "" OA053,OA054,OA062 esv2763791 1 16024214 16027597 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv6996077,essv6995077,essv6995633,essv6995411,essv6994633,essv6995966,essv6995300,essv6994966,essv6994855,essv6995744,essv6995522,essv6995855,essv6995189,essv6996188,essv6994744 M 1109 0 15 "" SW_0008,SW_0009,SW_0158,SW_0173,SW_0215,SW_0255,SW_0634,SW_0691,SW_0847,SW_0888,SW_1038,SW_1126,SW_1148,SW_1171,SW_1355 nsv511677 1 16024357 16028385 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626315 M 1 0 1 "" 1 esv1010744 1 16024518 16030696 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564107 M 3 0 1 "" HuRef nsv498663 1 16024530 16028020 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585393 M 9 0 1 "" esv29597 1 16024861 16028089 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17422 M 40 0 12 "" NA06985,NA11894,NA11931,NA11993,NA12004,NA12156,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510 nsv513982 1 16024864 16026544 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2853942,nssv2853889,nssv2853873,nssv2853842,nssv2853869,nssv2853923,nssv2853838,nssv2853890,nssv2853901,nssv2853872,nssv2853851,nssv2853928,nssv2850676,nssv2853961,nssv2850678,nssv2850680,nssv2853893,nssv2853931,nssv2853831,nssv2853902,nssv2853915,nssv2853921,nssv2853832,nssv2853954,nssv2853919,nssv2853883,nssv2853904,nssv2853945,nssv2853956,nssv2853834,nssv2853861,nssv2853914,nssv2853898,nssv2853918,nssv2853884,nssv2853856,nssv2853924,nssv2853938,nssv2853930,nssv2850682,nssv2853933,nssv2853860,nssv2853916,nssv2853888,nssv2853946,nssv2853951,nssv2853863,nssv2853857,nssv2853849,nssv2853909,nssv2853939,nssv2853905,nssv2853847,nssv2853897,nssv2853844,nssv2853876,nssv2853906,nssv2853944,nssv2850677,nssv2853947,nssv2853895,nssv2853953,nssv2853910,nssv2853896,nssv2853835,nssv2853882,nssv2853952,nssv2853887,nssv2853907,nssv2853927,nssv2853950,nssv2853929,nssv2853886,nssv2853949,nssv2853848,nssv2853917,nssv2853957,nssv2853855,nssv2853881,nssv2853899,nssv2853862,nssv2853850,nssv2853912,nssv2853833,nssv2853878,nssv2853839,nssv2853908,nssv2853900,nssv2853955,nssv2853866,nssv2853837,nssv2853937,nssv2853843,nssv2850675,nssv2853853,nssv2853870,nssv2853925,nssv2853911,nssv2853903,nssv2853852,nssv2853943,nssv2853926,nssv2853874,nssv2850679,nssv2853829,nssv2853830,nssv2853885,nssv2853958,nssv2853845,nssv2853959,nssv2853858,nssv2853892,nssv2853940,nssv2853934,nssv2853868,nssv2853935,nssv2853836,nssv2853936,nssv2853875,nssv2853932,nssv2853867,nssv2853920,nssv2853891,nssv2853879,nssv2853894,nssv2853960,nssv2853865,nssv2853880,nssv2853871,nssv2853854,nssv2853948,nssv2853877,nssv2850681,nssv2853864,nssv2853913,nssv2853846,nssv2853841,nssv2853941,nssv2853840,nssv2853922,nssv2853859 M 2366 0 141 "" NA06985,NA06986,NA06989,NA06991,NA07014,NA07019,NA07031,NA07034,NA07048,NA07056,NA07346,NA07348,NA07349,NA07357,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10850,NA10856,NA10857,NA10863,NA11829,NA11830,NA11832,NA11839,NA11840,NA11881,NA11882,NA11894,NA11918,NA11920,NA11930,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12058,NA12144,NA12156,NA12234,NA12249,NA12272,NA12273,NA12274,NA12275,NA12286,NA12336,NA12343,NA12347,NA12400,NA12414,NA12485,NA12489,NA12708,NA12716,NA12717,NA12740,NA12749,NA12750,NA12751,NA12753,NA12760,NA12761,NA12763,NA12766,NA12775,NA12776,NA12778,NA12802,NA12813,NA12814,NA12815,NA12817,NA12828,NA12830,NA12832,NA12842,NA12843,NA12872,NA12877,NA12878,NA12889,NA12890,NA12891,NA18498,NA18509,NA18542,NA18564,NA18609,NA18853,NA18854,NA18868,NA18869,NA18873,NA18874,NA18875,NA18924,NA18925,NA19098,NA19123,NA19150,NA19151,NA19171,NA19175,NA19177,NA19181,NA19183,NA21301,NA21302,NA21303,NA21344,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21400,NA21401,NA21454,NA21475,NA21477,NA21478,NA21479,NA21480,NA21489,NA21522,NA21583,NA21717,NA21718 nsv545620 1 16024884 16027531 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710768,nssv710664,nssv710772,nssv710622,nssv710644,nssv710682,nssv710786,nssv710756,nssv710629,nssv710755,nssv710634,nssv710630,nssv710675,nssv710784,nssv710785,nssv710779,nssv710672,nssv710626,nssv710778,nssv710679,nssv710633,nssv710777,nssv710789,nssv710794,nssv710631,nssv710790,nssv710787,nssv710678,nssv710663,nssv710676,nssv710788,nssv710677,nssv710795,nssv710791,nssv710706,nssv710681,nssv710792,nssv710632,nssv710793,nssv710662,nssv710680,nssv710796,nssv710635,nssv710776,nssv710625,nssv710687,nssv710667,nssv710638,nssv710636,nssv710705,nssv710671,nssv710686,nssv710683,nssv710685,nssv710684,nssv710774,nssv710666,nssv710637,nssv710688,nssv710773,nssv710775,nssv710692,nssv710691,nssv710665,nssv710693,nssv710783,nssv710643,nssv710761,nssv710690,nssv710689,nssv710771,nssv710767,nssv710696,nssv710640,nssv710760,nssv710695,nssv710762,nssv710639,nssv710694,nssv710670,nssv710698,nssv710798,nssv710668,nssv710669,nssv710641,nssv710697,nssv710765,nssv710703,nssv710642,nssv710766,nssv710704,nssv710700,nssv710702,nssv710699,nssv710797,nssv710701,nssv710673,nssv710726,nssv710708,nssv710782,nssv710652,nssv710552,nssv710780,nssv710674,nssv710707,nssv710712,nssv710711,nssv710544,nssv710540,nssv710539,nssv710628,nssv710542,nssv710541,nssv710543,nssv710545,nssv710710,nssv710551,nssv710709,nssv710546,nssv710550,nssv710578,nssv710549,nssv710547,nssv710548,nssv710718,nssv710770,nssv710651,nssv710656,nssv710553,nssv710715,nssv710757,nssv710563,nssv710554,nssv710713,nssv710555,nssv710714,nssv710661,nssv710577,nssv710716,nssv710562,nssv710645,nssv710754,nssv710556,nssv710557,nssv710717,nssv710561,nssv710559,nssv710560,nssv710558,nssv710576,nssv710752,nssv710764,nssv710658,nssv710657,nssv710650,nssv710567,nssv710564,nssv710566,nssv710565,nssv710722,nssv710720,nssv710721,nssv710719,nssv710725,nssv710649,nssv710647,nssv710646,nssv710568,nssv710575,nssv710571,nssv710648,nssv710570,nssv710569,nssv710724,nssv710573,nssv710572,nssv710574,nssv710723,nssv710751,nssv710582,nssv710655,nssv710627,nssv710728,nssv710581,nssv710654,nssv710580,nssv710583,nssv710623,nssv710579,nssv710781,nssv710763,nssv710653,nssv710660,nssv710727,nssv710588,nssv710729,nssv710733,nssv710620,nssv710589,nssv710585,nssv710584,nssv710758,nssv710587,nssv710734,nssv710731,nssv710732,nssv710730,nssv710586,nssv710605,nssv710590,nssv710736,nssv710593,nssv710619,nssv710735,nssv710659,nssv710759,nssv710738,nssv710753,nssv710591,nssv710737,nssv710592,nssv710604,nssv710600,nssv710743,nssv710599,nssv710739,nssv710594,nssv710596,nssv710595,nssv710598,nssv710597,nssv710741,nssv710742,nssv710740,nssv710601,nssv710603,nssv710602,nssv710606,nssv710618,nssv710608,nssv710607,nssv710744,nssv710621,nssv710750,nssv710624,nssv710610,nssv710611,nssv710609,nssv710769,nssv710749,nssv710617,nssv710613,nssv710745,nssv710614,nssv710612,nssv710615,nssv710748,nssv710616,nssv710747,nssv710746 M 17421 0 260 "" nsv945789 1 16024977 16027778 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756190,nssv1756173,nssv1756113,nssv1756132,nssv1756117,nssv1756202,nssv1756127,nssv1756156,nssv1756138,nssv1756200,nssv1756131,nssv1756152,nssv1756140,nssv1756141,nssv1756121,nssv1756182,nssv1756122,nssv1756203,nssv1756137,nssv1756160,nssv1756110,nssv1756145,nssv1756119,nssv1756198,nssv1756123,nssv1756175,nssv1756120,nssv1756148,nssv1756133,nssv1756180,nssv1756193,nssv1756135,nssv1756186,nssv1756168,nssv1756191,nssv1756205,nssv1756192,nssv1756147,nssv1756128,nssv1756109,nssv1756118,nssv1756163,nssv1756130,nssv1756171,nssv1756125,nssv1756143,nssv1756126,nssv1756157,nssv1756188,nssv1756177,nssv1756124,nssv1756169,nssv1756187,nssv1756166,nssv1756116,nssv1756150,nssv1756129,nssv1756204,nssv1756194,nssv1756161,nssv1756114,nssv1756201,nssv1756189,nssv1756162,nssv1756115,nssv1756185,nssv1756111,nssv1756178,nssv1756112,nssv1756170,nssv1756195,nssv1756151,nssv1756134,nssv1756159,nssv1756183,nssv1756164,nssv1756174,nssv1756172,nssv1756144,nssv1756153,nssv1756136,nssv1756158,nssv1756155,nssv1756199,nssv1756139,nssv1756176,nssv1756181,nssv1756196,nssv1756154,nssv1756149,nssv1756142,nssv1756167,nssv1756179,nssv1756184,nssv1756146,nssv1756197,nssv1756165 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv152n54 1 16024987 16026472 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545621,nsv545622 M 17421 0 2 "" nsv1011969 1 16026072 16074127 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465593,nssv3467774 M 29084 1 1 FLJ37453,SPEN nsv1012917 1 16026072 16074609 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475320 M 29084 0 1 FLJ37453,SPEN esv2764241 1 16026084 16054232 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005028,essv7005025,essv7005030,essv7005023,essv7005027,essv7005024,essv7005029,essv7005026 M 1109 0 8 FLJ37453,SPEN RW_0028,RW_0058,RW_0098,RW_0131,RW_0136,RW_0273,RW_0325,RW_0570 dgv153n54 1 16026085 16027531 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545625,nsv545623 M 17421 0 3 "" dgv154n54 1 16026085 16033976 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545626,nsv545624 M 17421 0 2 FLJ37453 dgv38n100 1 16038248 16123120 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011695,nsv1004140 M 29084 2 0 FLJ37453,SPEN nsv829559 1 16058573 16065542 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1439448,nssv1422361,nssv1428817 M 31 0 3 SPEN AK12,NA18537,NA18552 esv22591 1 16082863 16086049 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17906 M 40 1 0 SPEN NA12287 nsv508936 1 16114934 16380107 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619775,nssv619774 M 4 1 0 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,SPEN,ZBTB17 NA10860 nsv478397 1 16127509 16127509 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012377 M 9 1 0 SPEN NA18507 nsv833758 1 16168110 16339601 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1443007,nssv1443018 M 95 1 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,ZBTB17 nsv997887 1 16193597 16314290 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698789 M 29084 1 0 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 nsv545627 1 16200009 16246917 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710806 M 17421 0 1 C1orf64,CLCNKA,CLCNKB,HSPB7 nsv517651 1 16204496 16253169 CNV gain+loss Shaikh_et_al_2009 19592680 SNP array nssv663351,nssv672518,nssv667590,nssv674326,nssv654197,nssv674154,nssv688461,nssv701339,nssv701973,nssv692440,nssv655929,nssv659185,nssv685627,nssv656190,nssv670058,nssv673550,nssv674672,nssv700288,nssv668525,nssv687919,nssv661818,nssv653845,nssv683426,nssv680788,nssv669916,nssv678289,nssv673015,nssv653562,nssv669004,nssv669108,nssv656487,nssv666809,nssv673768,nssv692238,nssv664812,nssv664299,nssv687387,nssv675618,nssv683268,nssv698988,nssv680689 M 2026 5 36 C1orf64,CLCNKA,CLCNKB,HSPB7 nsv520148 1 16204496 16338590 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697249 M 2026 0 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 nsv524045 1 16204496 16425359 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699909 M 2026 0 1 ARHGEF19,C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 dgv12n27 1 16213047 16240990 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460605,nsv460618 M 1557 0 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv545628 1 16213047 16240990 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173779,nssv710807,nssv1173778 M 17421 1 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv460629 1 16213047 16253169 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537170 M 1557 1 0 CLCNKA,CLCNKB,HSPB7 HGDP01090 dgv155n54 1 16213047 16265944 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545629,nsv545633 M 17421 2 0 CLCNKA,CLCNKB,FAM131C,HSPB7 HGDP00923,HGDP01090 nsv470698 1 16213047 16269393 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547710 M 443 0 1 CLCNKA,CLCNKB,FAM131C,HSPB7 HGDP00661 esv2760188 1 16217251 16262989 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv6996522,essv6996300,essv6996633,essv6996744,essv6996411 M 1109 4 1 CLCNKA,CLCNKB,FAM131C,HSPB7 SW_0061,SW_0086,SW_0786,SW_1282,SW_1480 dgv13n27 1 16219044 16249418 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460640,nsv460651 M 1557 2 0 CLCNKA,CLCNKB HGDP00906,HGDP00941 dgv156n54 1 16219044 16249418 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545632,nsv545631,nsv545630 M 17421 3 0 CLCNKA,CLCNKB HGDP00906,HGDP00934,HGDP00941 esv25815 1 16219529 16263470 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17676,esv10646 M 40 8 0 CLCNKA,CLCNKB,FAM131C NA12156,NA12489,NA12828,NA18508,NA18858,NA18861,NA18909,NA19108 dgv2n64 1 16220999 16240911 CNV gain Wang_et_al_2007 17921354 SNP array nsv818078,nsv818067 M 112 5 0 CLCNKA NA19143,NA19172,NA19173,NA19193,NA19194 nsv473735 1 16221841 16221841 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012638 M 9 1 0 CLCNKA NA19129 esv8597 1 16222299 16244484 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31038 M 1 0 0 CLCNKA,CLCNKB nsv829570 1 16231948 16276219 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426375 M 31 1 0 CLCNKA,CLCNKB,FAM131C AK6 nsv545634 1 16232866 16260100 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710808 M 17421 1 0 CLCNKA,CLCNKB,FAM131C nsv545635 1 16233074 16233468 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710829,nssv710828,nssv710820,nssv710835,nssv710834,nssv710832,nssv710833,nssv710831,nssv710830,nssv710837,nssv710836,nssv710826,nssv710817,nssv710819,nssv710818,nssv710827,nssv710822,nssv710821,nssv710816,nssv710825,nssv710809,nssv710811,nssv710810,nssv710814,nssv710824,nssv710823,nssv710813,nssv710812,nssv710815 M 17421 0 29 CLCNKA nsv545636 1 16233293 16233468 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710838 M 17421 0 1 "" esv2434454 1 16233712 16258094 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5273432 M 1 0 1 CLCNKB,FAM131C NA18507 nsv511678 1 16234015 16256717 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626316 M 1 0 1 CLCNKB 1 esv995840 1 16234677 16257931 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3574114 M 3 0 1 CLCNKB,FAM131C HuRef dgv1e19 1 16235588 16261898 CNV loss Ahn_et_al_2009 19470904 Sequencing esv5593,esv5890 M 1 0 0 CLCNKB,FAM131C nsv436443 1 16235848 16256942 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466694 M 2 0 1 CLCNKB,FAM131C NA18505 dgv157n54 1 16236512 16258355 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545639,nsv545637 M 17421 2 0 CLCNKB,FAM131C esv2764186 1 16236527 16252003 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005032,essv7005034,essv7005035,essv7005031 M 1109 2 2 CLCNKB RW_0158,RW_0213,RW_0578,RW_0623 esv32650 1 16236614 16262379 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv95958,essv97715,essv93058 M 51 3 0 CLCNKB,FAM131C 21863,22127,22278 nsv441684 1 16240718 16251918 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1656598,nssv1656596,nssv1656599,nssv1656597 M 270 4 0 CLCNKB NA10846,NA12144,NA18508,NA19159 nsv545638 1 16240911 16253402 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710840 M 17421 1 0 CLCNKB esv6377 1 16248854 16258926 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28818 M 1 0 0 CLCNKB,FAM131C esv1006289 1 16249104 16249104 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3572231 M 3 1 0 CLCNKB HuRef esv1779187 1 16249105 16249105 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3873209 M 2 1 0 CLCNKB HuRef nsv545640 1 16249418 16260160 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710842 M 17421 1 0 CLCNKB,FAM131C esv3448687 1 16256252 16257850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692007 M 185 1 0 CLCNKB,FAM131C NA19239 esv1072127 1 16293810 16293810 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3733226 M 2 1 0 "" HuRef nsv833869 1 16309340 16477716 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443029 M 95 0 1 ARHGEF19,EPHA2,FBXO42,RSG1 nsv470699 1 16338590 16403303 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547711 M 443 0 1 ARHGEF19,EPHA2 HGDP00697 esv1258099 1 16363142 16363142 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4037753 M 2 1 0 "" HuRef esv1271324 1 16365234 16365294 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3655096 M 2 0 1 "" HuRef dgv2e180 1 16365251 16365322 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array esv993479,esv993773 M 3 0 1 "" HuRef nsv545641 1 16402636 16534014 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173785 M 17421 0 1 ARHGEF19,FBXO42,RSG1 HGDP01309 nsv3520 1 16420395 16454833 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2762 M 9 1 0 FBXO42,RSG1 NA18555 nsv545642 1 16458405 16545146 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173786 M 17421 0 1 FBXO42 HGDP00286 esv1036042 1 16510169 16510169 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3767129 M 2 1 0 FBXO42 HuRef esv2618916 1 16512355 16512407 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5350545 M 1 0 1 FBXO42 NA18507 nsv947414 1 16520495 16545369 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2764539 M 97 1 0 FBXO42 HGDP00542 nsv511679 1 16559188 16563537 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626317 M 1 0 1 "" 1 nsv945790 1 16567826 16568603 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756228,nssv1756263,nssv1756283,nssv1756282,nssv1756224,nssv1756232,nssv1756208,nssv1756233,nssv1756210,nssv1756276,nssv1756237,nssv1756262,nssv1756217,nssv1756278,nssv1756219,nssv1756250,nssv1756207,nssv1756236,nssv1756234,nssv1756281,nssv1756209,nssv1756271,nssv1756212,nssv1756241,nssv1756290,nssv1756261,nssv1756220,nssv1756252,nssv1756288,nssv1756255,nssv1756235,nssv1756299,nssv1756289,nssv1756229,nssv1756227,nssv1756243,nssv1756285,nssv1756266,nssv1756230,nssv1756253,nssv1756223,nssv1756297,nssv1756225,nssv1756249,nssv1756291,nssv1756300,nssv1756213,nssv1756272,nssv1756222,nssv1756238,nssv1756215,nssv1756295,nssv1756226,nssv1756265,nssv1756218,nssv1756257,nssv1756211,nssv1756270,nssv1756286,nssv1756245,nssv1756221,nssv1756246,nssv1756216,nssv1756254,nssv1756284,nssv1756260,nssv1756287,nssv1756244,nssv1756214,nssv1756206,nssv1756292,nssv1756302,nssv1756301,nssv1756277,nssv1756279,nssv1756242,nssv1756239,nssv1756248,nssv1756251,nssv1756240,nssv1756275,nssv1756274,nssv1756268,nssv1756231,nssv1756298,nssv1756267,nssv1756269,nssv1756293,nssv1756256,nssv1756280,nssv1756294,nssv1756259,nssv1756258,nssv1756296,nssv1756273,nssv1756247,nssv1756264 M 97 10 0 SZRD1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv829581 1 16621237 16627622 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1421445 M 31 0 1 SPATA21 NA18997 esv1035588 1 16623300 16623300 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3853896 M 2 1 0 SPATA21 HuRef dgv19n67 1 16623746 16627622 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv829592,nsv829603 M 31 0 3 SPATA21 AK14,AK6,NA18969 esv2758925 1 16636920 17356568 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757725,esv2756838 M 270 182 33 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MFAP2,MIR3675,MST1L,MST1P2,NBPF1,NECAP2,PADI2,SDHB NA06991,NA06993,NA07000,NA07019,NA07022,NA07034,NA07048,NA07055,NA07357,NA10830,NA10831,NA10847,NA10851,NA10855,NA10860,NA10861,NA10863,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12056,NA12144,NA12146,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12707,NA12717,NA12740,NA12750,NA12751,NA12753,NA12760,NA12762,NA12763,NA12801,NA12812,NA12813,NA12864,NA12865,NA12872,NA12873,NA12875,NA12878,NA12891,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18507,NA18515,NA18516,NA18517,NA18521,NA18522,NA18523,NA18526,NA18529,NA18540,NA18542,NA18545,NA18547,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18577,NA18579,NA18582,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18632,NA18635,NA18636,NA18637,NA18853,NA18854,NA18855,NA18856,NA18863,NA18870,NA18872,NA18913,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19103,NA19116,NA19119,NA19120,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19139,NA19140,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239 nsv428421 1 16636920 17356568 CNV gain+loss Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv454310,nssv454509,nssv454276,nssv454421,nssv454299,nssv454410,nssv454343,nssv454321,nssv454465,nssv454265,nssv454487,nssv454354,nssv454521,nssv454398,nssv454376,nssv454332,nssv454365,nssv454498,nssv454454,nssv454432,nssv454387,nssv454443,nssv454476 M 62 17 6 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MFAP2,MIR3675,MST1L,MST1P2,NBPF1,NECAP2,PADI2,SDHB HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19147,NA19181,NA19225,NA19257 dgv1n68 1 16638358 16809279 CNV loss Wong_et_al_2007 17160897 BAC aCGH nsv833980,nsv834092 M 95 0 8 CROCCP3,MIR3675,NBPF1,NECAP2 nsv9213 1 16649604 16652120 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv13424,nssv15103,nssv12118 M 31 0 3 NECAP2 NA18504,NA18517,NA19144 dgv39n100 1 16650266 17164469 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013995,nsv1012639,nsv1014635,nsv1011657,nsv1014522,nsv1005562,nsv1000113,nsv1004894,nsv1012642,nsv1003077,nsv1011646,nsv1007741,nsv1002985,nsv1002322,nsv1012031,nsv1004738,nsv1013089,nsv1001032,nsv1005184,nsv1005491,nsv1014379,nsv1000484,nsv1008783,nsv1009669,nsv1001569,nsv998739,nsv1010082,nsv1012519,nsv1003293,nsv1015127,nsv998219,nsv1005297 M 29084 50 0 CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1,NECAP2 dgv40n100 1 16669308 16859426 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997628,nsv1008610,nsv1013886,nsv998355,nsv1006224 M 29084 5 0 CROCCP2,CROCCP3,MIR3675,MST1P2,NBPF1 nsv9324 1 16669734 17153811 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv12758,nssv13096,nssv15754,nssv12766,nssv14091,nssv13422,nssv14421,nssv13754,nssv14430,nssv12428,nssv28922,nssv13749,nssv13092,nssv13090,nssv13420,nssv15438,nssv13750,nssv12098,nssv14080,nssv12116,nssv14740,nssv14410,nssv14415,nssv13742,nssv14085,nssv14760,nssv13752,nssv15104,nssv13104,nssv12753,nssv12097,nssv13419,nssv15779,nssv15768,nssv12778,nssv16098,nssv12440,nssv12448,nssv15424,nssv16414,nssv11768,nssv11785,nssv14100,nssv14084,nssv14414,nssv29255,nssv14744,nssv29254,nssv13756,nssv16084,nssv11767,nssv16763,nssv13761,nssv13089,nssv14082,nssv17093,nssv17423,nssv13426 M 31 11 17 CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12802,NA18502,NA18517,NA18537,NA18552,NA18564,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173,NA19221 nsv436814 1 16678681 16822828 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465509 M 2 1 0 CROCCP2,CROCCP3,MIR3675,NBPF1 NA18505 esv2750816 1 16681281 16902301 CNV gain Pinto_et_al_2007 17911159 SNP array essv6981188,essv6985510 M 771 2 0 CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 BEC_362 nsv159668 1 16682453 16684183 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178246 M 24 CROCCP3 nsv945793 1 16683850 16836231 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756557,nssv1756356,nssv1756559,nssv1756378,nssv1756342,nssv1756357,nssv1756554,nssv1756362,nssv1756398,nssv1756372,nssv1756338,nssv1756373,nssv1756326,nssv1756354,nssv1756331,nssv1756387,nssv1756329,nssv1756345,nssv1756328,nssv1756383,nssv1756321,nssv1756381,nssv1756333,nssv1756394,nssv1756348,nssv1756360,nssv1756351,nssv1756366,nssv1756558,nssv1756367,nssv1756336,nssv1756365,nssv1756556,nssv1756355,nssv1756555,nssv1756353,nssv1756334,nssv1756389,nssv1756324,nssv1756364,nssv1756349,nssv1756347,nssv1756337,nssv1756350,nssv1756341,nssv1756395,nssv1756323,nssv1756396,nssv1756339,nssv1756392,nssv1756399,nssv1756386,nssv1756344,nssv1756361,nssv1756327,nssv1756376,nssv1756332,nssv1756380,nssv1756330,nssv1756375,nssv1756340,nssv1756568,nssv1756325,nssv1756369,nssv1756400,nssv1756385,nssv1756335,nssv1756393,nssv1756322,nssv1756370,nssv1756397,nssv1756390,nssv1756569,nssv1756563,nssv1756377,nssv1756363,nssv1756379,nssv1756566,nssv1756560,nssv1756565,nssv1756384,nssv1756561,nssv1756352,nssv1756320,nssv1756567,nssv1756371,nssv1756359,nssv1756346,nssv1756368,nssv1756374,nssv1756391,nssv1756388,nssv1756343,nssv1756358,nssv1756562,nssv1756564,nssv1756382 M 97 10 0 CROCCP2,CROCCP3,MIR3675,NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv1e203 1 16686508 17134834 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array esv2763736,esv2764199 M 1109 115 105 CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 RW_0003,RW_0007,RW_0020,RW_0021,RW_0023,RW_0030,RW_0032,RW_0034,RW_0041,RW_0043,RW_0046,RW_0047,RW_0054,RW_0060,RW_0063,RW_0068,RW_0069,RW_0078,RW_0084,RW_0085,RW_0087,RW_0093,RW_0098,RW_0099,RW_0101,RW_0105,RW_0106,RW_0108,RW_0110,RW_0112,RW_0120,RW_0146,RW_0148,RW_0156,RW_0158,RW_0161,RW_0162,RW_0169,RW_0173,RW_0178,RW_0179,RW_0180,RW_0183,RW_0186,RW_0187,RW_0190,RW_0191,RW_0192,RW_0194,RW_0195,RW_0196,RW_0210,RW_0212,RW_0215,RW_0216,RW_0217,RW_0218,RW_0221,RW_0233,RW_0234,RW_0250,RW_0251,RW_0255,RW_0257,RW_0258,RW_0268,RW_0272,RW_0281,RW_0288,RW_0289,RW_0293,RW_0296,RW_0309,RW_0310,RW_0311,RW_0314,RW_0315,RW_0318,RW_0321,RW_0324,RW_0327,RW_0333,RW_0335,RW_0346,RW_0348,RW_0354,RW_0357,RW_0359,RW_0361,RW_0520,RW_0521,RW_0525,RW_0526,RW_0531,RW_0536,RW_0540,RW_0545,RW_0546,RW_0552,RW_0558,RW_0559,RW_0560,RW_0567,RW_0570,RW_0573,RW_0574,RW_0583,RW_0585,RW_0593,RW_0599,RW_0603,RW_0604,RW_0615,RW_0620,RW_0631,RW_0640,RW_0643,RW_0648,RW_0655,RW_0658,RW_0664,RW_0666,SW_0002,SW_0009,SW_0046,SW_0057,SW_0058,SW_0060,SW_0062,SW_0077,SW_0089,SW_0116,SW_0146,SW_0147,SW_0149,SW_0173,SW_0185,SW_0230,SW_0253,SW_0257,SW_0269,SW_0375,SW_0605,SW_0638,SW_0639,SW_0659,SW_0757,SW_0759,SW_0801,SW_0803,SW_0829,SW_0833,SW_0834,SW_0859,SW_0885,SW_1012,SW_1045,SW_1064,SW_1074,SW_1083,SW_1095,SW_1100,SW_1106,SW_1111,SW_1112,SW_1118,SW_1124,SW_1137,SW_1149,SW_1153,SW_1166,SW_1167,SW_1176,SW_1180,SW_1190,SW_1196,SW_1198,SW_1201,SW_1213,SW_1240,SW_1242,SW_1277,SW_1282,SW_1295,SW_1305,SW_1306,SW_1323,SW_1325,SW_1327,SW_1340,SW_1354,SW_1356,SW_1365,SW_1367,SW_1371,SW_1402,SW_1404,SW_1405,SW_1406,SW_1424,SW_1428,SW_1433,SW_1435,SW_1436,SW_1438,SW_1439,SW_1443,SW_1450,SW_1456,SW_1467,SW_1472,SW_1478,SW_1503,SW_1527 nsv1003019 1 16692208 16859426 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468388 M 29084 0 1 CROCCP2,MIR3675,MST1P2,NBPF1 dgv41n100 1 16692208 16921054 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999526,nsv1007277,nsv1006305,nsv1010382,nsv1006607,nsv1013208,nsv1003672,nsv1002854,nsv1002278 M 29084 15 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv46e59 1 16693852 16695050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3359930,esv3429753 M 185 2 0 "" NA19239,NA19240 esv33046 1 16694145 16885111 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv95236,essv97938,essv97341,essv101021,essv96456,essv95920,essv101566,essv94690,essv96254,essv101730,essv98327 M 51 0 11 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 21603,21693,21772,21791,21837,21872,21879,21909,21911,22261,22371 dgv42n100 1 16701089 17097800 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005499,nsv1008791,nsv1012439 M 29084 0 3 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv43n100 1 16703395 16843031 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009058,nsv1013868,nsv1008752,nsv1006860,nsv1014444,nsv1014927 M 29084 0 7 CROCCP2,MIR3675,NBPF1 dgv44n100 1 16703395 16859426 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006306,nsv1012518,nsv999004,nsv1013085,nsv1008952 M 29084 18 5 CROCCP2,MIR3675,MST1P2,NBPF1 dgv47e59 1 16704152 16716350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3431489,esv3380800,esv3342628,esv3385063,esv3383407 M 185 5 0 "" NA12878,NA12891,NA12892,NA19238,NA19240 dgv20n67 1 16704467 16979088 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821710,nsv829614,nsv821699,nsv829636 M 31 4 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA18564,NA18570,NA18973,NA18997 nsv821511 1 16704467 16979088 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420247 M 1 1 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA10851 nsv829625 1 16704467 17154340 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1428017,nssv1436329,nssv1427247,nssv1434862,nssv1433412,nssv1437217,nssv1431796,nssv1428819,nssv1423110,nssv1423946,nssv1423407 M 31 11 0 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 AK10,AK12,AK20,AK8,NA18526,NA18542,NA18582,NA18942,NA18949,NA18968,NA18999 esv3367641 1 16704952 16708650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692016 M 185 1 0 "" NA19239 esv29642 1 16705673 16998216 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv19804,esv16441,esv11265,esv17374,esv10634,esv15698,esv18078,esv12183,esv17891,esv20185,esv13221,esv17903,esv12048,esv20857,esv20432,esv18819 M 40 26 20 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA07045,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv3385457 1 16709152 16716350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692021 M 185 1 0 "" NA19239 nsv472863 1 16716337 16716337 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012769 M 9 1 0 "" NA18555 dgv45n100 1 16717507 16987287 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002291,nsv997565,nsv997605,nsv1002636,nsv1007961,nsv998414,nsv1005144,nsv1003068,nsv1001395,nsv1005752,nsv1013347,nsv999128,nsv999889 M 29084 31 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv1001952 1 16724089 16817916 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471132,nssv3698800 M 29084 1 1 CROCCP2,MIR3675,NBPF1 dgv48e59 1 16727252 16736650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3407285,esv3429655,esv3421741,esv3441445 M 185 4 0 "" NA12878,NA12891,NA19238,NA19240 dgv49e59 1 16730352 16875450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3387438,esv3385432,esv3442238,esv3326076,esv3413552 M 185 5 0 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 NA12878,NA12891,NA12892,NA19238,NA19239 dgv50e59 1 16737152 16747050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3432763,esv3434952 M 185 2 0 "" NA12892,NA19240 nsv834203 1 16738731 16782708 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443207,nssv1443185,nssv1443229,nssv1443173,nssv1443196,nssv1443162,nssv1443251,nssv1443218,nssv1443240,nssv1443140,nssv1443151,nssv1443129 M 95 0 12 MIR3675,NBPF1 dgv46n100 1 16743853 16842575 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007618,nsv1001753,nsv1013756 M 29084 4 0 CROCCP2,MIR3675,NBPF1 dgv47n100 1 16743853 16843031 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006436,nsv999682,nsv1005136,nsv1006638,nsv1006099,nsv1010358,nsv1010074 M 29084 28 40 CROCCP2,MIR3675,NBPF1 dgv48n100 1 16743853 16878553 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003878,nsv1010727,nsv1001617,nsv998751 M 29084 70 15 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 dgv49n100 1 16743853 16909672 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010269,nsv1005045 M 29084 0 2 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv50n100 1 16743853 16921054 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004005,nsv1009214,nsv1009886,nsv998027,nsv1011759,nsv1007096,nsv1009923,nsv998387,nsv1004053,nsv998882,nsv1006615,nsv1014352,nsv1007868,nsv1010976,nsv1006444,nsv1003580,nsv1010594,nsv1005327 M 29084 52 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv1004807 1 16743853 16921054 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471542,nssv3466840,nssv3481280,nssv3464100,nssv3479470,nssv3470380,nssv3698840,nssv3463963,nssv3475171,nssv3476359,nssv3698841,nssv3479728,nssv3469069,nssv3477919,nssv3476612,nssv3480143,nssv3465078,nssv3465762,nssv3477768,nssv3463008,nssv3475762,nssv3463087,nssv3471748,nssv3465901,nssv3464998,nssv3473766,nssv3466295,nssv3468826,nssv3478386,nssv3474865,nssv3470590,nssv3476305,nssv3480403,nssv3465243,nssv3482004,nssv3474409,nssv3472288,nssv3481898,nssv3469188,nssv3478560,nssv3468750 M 29084 39 2 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv51n100 1 16743853 16987287 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009098,nsv1013819,nsv1000693,nsv1001344,nsv1011045 M 29084 0 5 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv52n100 1 16743853 16987287 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010821,nsv1003927,nsv1006241 M 29084 12 4 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv53n100 1 16743853 17050540 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010634,nsv998951,nsv999991,nsv1007622 M 29084 0 4 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv54n100 1 16743853 17087397 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999605,nsv1002009,nsv1006764,nsv1008201,nsv1009896,nsv1011684 M 29084 11 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv55n100 1 16743853 17148816 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000023,nsv1009019,nsv1006011,nsv1014932,nsv1004542,nsv999702,nsv1013996,nsv999140 M 29084 42 8 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 esv3429389 1 16747352 16768450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692033 M 185 1 0 MIR3675,NBPF1 NA19240 nsv499577 1 16751952 16879556 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nssv585483 M 9 0 0 CROCCP2,LOC729574,MST1P2,NBPF1 nsv7173 1 16758161 17136901 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1777,nssv5304,nssv9355,nssv10485,nssv5314,nssv747,nssv9405,nssv11237,nssv929,nssv1893,nssv10882,nssv10507,nssv10890,nssv9949,nssv9682,nssv1903,nssv3851,nssv1910,nssv3861,nssv1863,nssv3885,nssv5331,nssv657,nssv9691,nssv10523,nssv6334 M 9 0 0 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv3632 1 16758433 16793011 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9681,nssv5295,nssv3801,nssv564,nssv2682,nssv6260,nssv11241 M 9 7 0 NBPF1 NA12156,NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 dgv56n100 1 16758710 16843031 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000986,nsv997666,nsv1010184,nsv1004437,nsv1012484 M 29084 0 6 CROCCP2,NBPF1 nsv834247 1 16759150 16869758 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1443329,nssv1443340,nssv1443373,nssv1443284,nssv1443318,nssv1443273,nssv1443296,nssv1443384,nssv1443307,nssv1443362,nssv1443351,nssv1443262 M 95 1 11 CROCCP2,MST1P2,NBPF1 nsv221 1 16760883 16764275 CNV insertion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv221 M 1 1 0 NBPF1 NA15510 nsv471343 1 16762999 16791276 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv548025,nssv548027,nssv548026 M 3 3 0 NBPF1 JDW,NA18507,YH nsv471344 1 16762999 16812569 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv548030,nssv548028,nssv548029 M 3 3 0 NBPF1 JDW,NA18507,YH nsv482190 1 16762999 16812569 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558551 M 1 1 0 NBPF1 KB1 nsv945569 1 16763094 16764651 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2568995,nssv2569027,nssv2569068,nssv2569033,nssv2568978,nssv2569013,nssv2569003,nssv2569067,nssv2569066,nssv2569063,nssv2568970,nssv2569017,nssv2568973,nssv2569038,nssv2568985,nssv2568997,nssv2568992,nssv2569015,nssv2569053,nssv2569004,nssv2568986,nssv2569040,nssv2569060,nssv2569025,nssv2569064,nssv2569007,nssv2568974,nssv2569006,nssv2569048,nssv2569041,nssv2568972,nssv2569045,nssv2568982,nssv2569029,nssv2569055,nssv2569031,nssv2569047,nssv2568996,nssv2569046,nssv2569062,nssv2568991,nssv2569042,nssv2569001,nssv2569030,nssv2568984,nssv2569058,nssv2568976,nssv2569023,nssv2568981,nssv2569024,nssv2568990,nssv2569020,nssv2568975,nssv2569039,nssv2568993,nssv2569034,nssv2569049,nssv2569028,nssv2568971,nssv2569018,nssv2568979,nssv2569016,nssv2568987,nssv2569022,nssv2569056,nssv2569005,nssv2569000,nssv2568994,nssv2569052,nssv2569008,nssv2569050,nssv2569012,nssv2568983,nssv2569002,nssv2568989,nssv2569044,nssv2568980,nssv2569035,nssv2569051,nssv2569061,nssv2569037,nssv2569026,nssv2568969,nssv2569069,nssv2569019,nssv2569059,nssv2569011,nssv2569057,nssv2568998,nssv2569009,nssv2569036,nssv2569014 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv514916 1 16764035 16766562 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2853207,nssv2853153,nssv2853167,nssv2853154,nssv2853177,nssv2853156,nssv2853188,nssv2853157,nssv2853198,nssv2853158,nssv2853176,nssv2853159,nssv2853168,nssv2853134,nssv2853197,nssv2852968,nssv2853187,nssv2852957,nssv2853181,nssv2851653,nssv2853184,nssv2853140,nssv2853206,nssv2852971,nssv2853169,nssv2853115,nssv2853185,nssv2853026,nssv2853190,nssv2853080,nssv2853165,nssv2853118,nssv2853183,nssv2852964,nssv2853182,nssv2851643,nssv2853170,nssv2851747,nssv2853163,nssv2851662,nssv2853202,nssv2851736,nssv2853195,nssv2851625,nssv2853201,nssv2852965,nssv2853186,nssv2851663,nssv2853199,nssv2851741,nssv2853194,nssv2852951,nssv2853164,nssv2853067,nssv2853162,nssv2853077,nssv2853189,nssv2851776,nssv2853200,nssv2851628,nssv2853171,nssv2853133,nssv2853175,nssv2851624,nssv2853174,nssv2853046,nssv2853172,nssv2853002,nssv2853204,nssv2851758,nssv2853196,nssv2851808,nssv2853205,nssv2851661,nssv2853178,nssv2851800,nssv2853192,nssv2851640,nssv2853191,nssv2853033,nssv2853166,nssv2851805,nssv2853203,nssv2851790,nssv2853161,nssv2851616,nssv2853179,nssv2853051,nssv2853180,nssv2851700,nssv2853173,nssv2851673,nssv2853193,nssv2851779,nssv2851729,nssv2851703,nssv2853096,nssv2852940,nssv2851769,nssv2853020,nssv2853099,nssv2852936,nssv2851638,nssv2853035,nssv2853103,nssv2852973,nssv2851802,nssv2851648,nssv2851690,nssv2851751,nssv2851691,nssv2851766,nssv2851631,nssv2853053,nssv2851705,nssv2853128,nssv2851813,nssv2851803,nssv2852931,nssv2853114,nssv2853061,nssv2852989,nssv2851767,nssv2853031,nssv2853144,nssv2851731,nssv2851655,nssv2852937,nssv2852929,nssv2852979,nssv2851685,nssv2853013,nssv2853003,nssv2853009,nssv2851726,nssv2851695,nssv2853007,nssv2851757,nssv2853125,nssv2853138,nssv2851619,nssv2851698,nssv2853072,nssv2853104,nssv2851789,nssv2851670,nssv2851759,nssv2853083,nssv2851623,nssv2853111,nssv2853141,nssv2852934,nssv2851659,nssv2851711,nssv2851804,nssv2851719,nssv2853059,nssv2851781,nssv2851716,nssv2852963,nssv2853090,nssv2851780,nssv2853064,nssv2851702,nssv2851649,nssv2851730,nssv2851806,nssv2851734,nssv2851797,nssv2853071,nssv2853076,nssv2851814,nssv2853131,nssv2851795,nssv2851636,nssv2851720,nssv2851635,nssv2851678,nssv2851742,nssv2851738,nssv2853091,nssv2852997,nssv2852938,nssv2851714,nssv2852945,nssv2851656,nssv2852992,nssv2852948,nssv2851646,nssv2851674,nssv2852943,nssv2851755,nssv2853029,nssv2851680,nssv2851788,nssv2852932,nssv2851801,nssv2851706,nssv2853030,nssv2852925,nssv2851633,nssv2853139,nssv2853126,nssv2852928,nssv2853146,nssv2851652,nssv2852981,nssv2852998,nssv2851773,nssv2853017,nssv2851689,nssv2851810,nssv2851732,nssv2853014,nssv2852996,nssv2853084,nssv2851768,nssv2853106,nssv2852985,nssv2851687,nssv2853117,nssv2852987,nssv2853019,nssv2853110,nssv2853102,nssv2851651,nssv2851642,nssv2851739,nssv2853000,nssv2852983,nssv2852976,nssv2852975,nssv2853143,nssv2851772,nssv2852980,nssv2853069,nssv2851617,nssv2853088,nssv2851798,nssv2853160,nssv2853022,nssv2853024,nssv2851763,nssv2853081,nssv2851668,nssv2851787,nssv2853132,nssv2851667,nssv2853074,nssv2853129,nssv2852990,nssv2851666,nssv2853122,nssv2851641,nssv2851786,nssv2851811,nssv2853045,nssv2852952,nssv2853113,nssv2852960,nssv2853065,nssv2851650,nssv2851701,nssv2851740,nssv2851750,nssv2853119,nssv2852956,nssv2851783,nssv2851746,nssv2853098,nssv2851774,nssv2851728,nssv2853063,nssv2853044,nssv2851684,nssv2851704,nssv2851657,nssv2851699,nssv2851782,nssv2852941,nssv2851644,nssv2853142,nssv2851675,nssv2851799,nssv2853011,nssv2851792,nssv2853039,nssv2851713,nssv2853015,nssv2853108,nssv2852959,nssv2852972,nssv2853034,nssv2853130,nssv2851614,nssv2853005,nssv2851647,nssv2851622,nssv2851722,nssv2853016,nssv2851745,nssv2853097,nssv2851725,nssv2851727,nssv2851694,nssv2853148,nssv2851672,nssv2851754,nssv2853023,nssv2853145,nssv2852991,nssv2853006,nssv2851686,nssv2853062,nssv2851761,nssv2853047,nssv2851796,nssv2851775,nssv2853152,nssv2853012,nssv2853027,nssv2851735,nssv2851807,nssv2852949,nssv2852924,nssv2851712,nssv2851658,nssv2851618,nssv2852966,nssv2853116,nssv2851718,nssv2853054,nssv2851815,nssv2852935,nssv2853050,nssv2853092,nssv2852930,nssv2851708,nssv2853109,nssv2853093,nssv2853032,nssv2851613,nssv2853010,nssv2852927,nssv2853037,nssv2852954,nssv2852999,nssv2851771,nssv2853094,nssv2851756,nssv2853066,nssv2851682,nssv2851737,nssv2851723,nssv2851620,nssv2851743,nssv2852984,nssv2852933,nssv2851639,nssv2851676,nssv2851693,nssv2852988,nssv2853055,nssv2852950,nssv2851634,nssv2853021,nssv2851709,nssv2851707,nssv2852977,nssv2852993,nssv2851621,nssv2853123,nssv2852967,nssv2853095,nssv2851665,nssv2852978,nssv2853136,nssv2851765,nssv2852947,nssv2851688,nssv2851717,nssv2851645,nssv2852939,nssv2853085,nssv2851632,nssv2851677,nssv2853058,nssv2853086,nssv2853089,nssv2853040,nssv2851627,nssv2853079,nssv2851749,nssv2851778,nssv2852970,nssv2851629,nssv2852962,nssv2853004,nssv2853008,nssv2853124,nssv2851710,nssv2853137,nssv2853057,nssv2852961,nssv2853025,nssv2853038,nssv2853121,nssv2852958,nssv2852953,nssv2851744,nssv2851793,nssv2851760,nssv2851748,nssv2851681,nssv2851692,nssv2852955,nssv2853155,nssv2851762,nssv2852923,nssv2853028,nssv2851669,nssv2852946,nssv2851654,nssv2851679,nssv2853041,nssv2851794,nssv2851721,nssv2853101,nssv2853052,nssv2853068,nssv2851764,nssv2852926,nssv2853151,nssv2851683,nssv2851664,nssv2851753,nssv2851724,nssv2851615,nssv2853135,nssv2852986,nssv2851696,nssv2853107,nssv2851626,nssv2853082,nssv2851752,nssv2852994,nssv2851637,nssv2853036,nssv2851777,nssv2853087,nssv2853043,nssv2853049,nssv2853149,nssv2853042,nssv2851697,nssv2853078,nssv2852942,nssv2853150,nssv2851770,nssv2852969,nssv2851785,nssv2853100,nssv2851809,nssv2852982,nssv2852944,nssv2853075,nssv2851812,nssv2853120,nssv2853056,nssv2851733,nssv2851791,nssv2853073,nssv2853070,nssv2853048,nssv2851660,nssv2853105,nssv2853112,nssv2851671,nssv2852974,nssv2853001,nssv2851715,nssv2852995,nssv2851784,nssv2853060,nssv2851630,nssv2853127,nssv2853147,nssv2853018 M 2366 488 0 NBPF1 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv945570 1 16764651 16766267 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569992,nssv2569999,nssv2569077,nssv2569980,nssv2569082,nssv2569995,nssv2569073,nssv2569125,nssv2569093,nssv2569974,nssv2569088,nssv2569117,nssv2569101,nssv2570005,nssv2569985,nssv2569137,nssv2569096,nssv2569129,nssv2569074,nssv2569133,nssv2570001,nssv2569134,nssv2569079,nssv2569108,nssv2569984,nssv2569132,nssv2569993,nssv2569975,nssv2569075,nssv2569982,nssv2569078,nssv2569126,nssv2569983,nssv2569123,nssv2570004,nssv2569976,nssv2569085,nssv2570003,nssv2569089,nssv2569113,nssv2569986,nssv2569136,nssv2569987,nssv2569112,nssv2569991,nssv2569981,nssv2569072,nssv2569100,nssv2569083,nssv2569130,nssv2569080,nssv2569111,nssv2569990,nssv2569103,nssv2569104,nssv2569099,nssv2569092,nssv2569127,nssv2569090,nssv2569070,nssv2569091,nssv2569124,nssv2569996,nssv2569119,nssv2569071,nssv2569122,nssv2569081,nssv2569105,nssv2569086,nssv2569110,nssv2570002,nssv2569997,nssv2569094,nssv2569095,nssv2569102,nssv2569135,nssv2569084,nssv2569121,nssv2569988,nssv2569116,nssv2569115,nssv2569998,nssv2569107,nssv2569118,nssv2569114,nssv2569977,nssv2569994,nssv2569106,nssv2569097,nssv2569128,nssv2569979,nssv2570006 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3419518 1 16764886 16764886 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808928 M 185 1 0 NBPF1 NA12878 nsv435932 1 16764976 16765094 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465620 M 2 1 0 NBPF1 NA15510 nsv159149 1 16765080 16766617 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177727 M 24 NBPF1 nsv436039 1 16765276 16765332 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465731 M 2 1 0 NBPF1 NA15510 nsv945571 1 16766267 16767105 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570025,nssv2570081,nssv2570030,nssv2570016,nssv2570014,nssv2570065,nssv2570100,nssv2570093,nssv2570106,nssv2570067,nssv2570023,nssv2570069,nssv2570034,nssv2570090,nssv2570042,nssv2570089,nssv2570020,nssv2570063,nssv2570041,nssv2570094,nssv2570015,nssv2570072,nssv2570098,nssv2570084,nssv2570029,nssv2570078,nssv2570043,nssv2570079,nssv2570031,nssv2570048,nssv2570046,nssv2570052,nssv2570096,nssv2570056,nssv2570026,nssv2570080,nssv2570102,nssv2570091,nssv2570009,nssv2570074,nssv2570024,nssv2570059,nssv2570027,nssv2570054,nssv2570104,nssv2570057,nssv2570040,nssv2570075,nssv2570028,nssv2570017,nssv2570039,nssv2570053,nssv2570021,nssv2570107,nssv2570035,nssv2570073,nssv2570032,nssv2570018,nssv2570037,nssv2570049,nssv2570038,nssv2570068,nssv2570050,nssv2570058,nssv2570105,nssv2570092,nssv2570101,nssv2570083,nssv2570097,nssv2570070,nssv2570036,nssv2570013,nssv2570051,nssv2570087,nssv2570103,nssv2570082,nssv2570085,nssv2570086,nssv2570076,nssv2570019,nssv2570064,nssv2570095,nssv2570010,nssv2570061,nssv2570045,nssv2570062,nssv2570047,nssv2570012,nssv2570008,nssv2570060,nssv2570071,nssv2570007 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945572 1 16767709 16793448 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570130,nssv2570148,nssv2570190,nssv2570145,nssv2570131,nssv2570138,nssv2570112,nssv2570175,nssv2570125,nssv2570157,nssv2570118,nssv2570170,nssv2570194,nssv2570158,nssv2570119,nssv2570180,nssv2570139,nssv2570151,nssv2570128,nssv2570163,nssv2570189,nssv2570174,nssv2570195,nssv2570144,nssv2570192,nssv2570171,nssv2570188,nssv2570164,nssv2570113,nssv2570147,nssv2570193,nssv2570149,nssv2570185,nssv2570184,nssv2570191,nssv2570142,nssv2570133,nssv2570159,nssv2570129,nssv2570166,nssv2570115,nssv2570182,nssv2570140,nssv2570181,nssv2570109,nssv2570183,nssv2570123,nssv2570146,nssv2570135,nssv2570136,nssv2570186,nssv2570108,nssv2570116,nssv2570168,nssv2570122,nssv2570162,nssv2570114,nssv2570169,nssv2570117,nssv2570173,nssv2570127,nssv2570153,nssv2570126,nssv2570155,nssv2570124,nssv2570137,nssv2570120,nssv2570177,nssv2570111,nssv2570179,nssv2570152,nssv2570178,nssv2570156,nssv2570134,nssv2570167,nssv2570160,nssv2570172,nssv2570141,nssv2570150,nssv2570161 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545643 1 16767863 16817945 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710843 M 17421 0 1 CROCCP2,NBPF1 esv34697 1 16767863 16918233 CNV gain Pinto_et_al_2007 17911159 SNP array essv6979544,essv6986884,essv6990378 M 771 3 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 NA18570 esv3444386 1 16768952 16849150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692035 M 185 1 0 CROCCP2,MST1P2,NBPF1 NA19240 nsv3743 1 16772086 16818208 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv835,nssv3842 M 9 0 2 CROCCP2,NBPF1 NA12878,NA19240 dgv1n16 1 16781280 16788232 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nsv435920,nsv436307 M 2 0 2 NBPF1 NA15510,NA18505 dgv57n100 1 16782184 16842753 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006221,nsv1014127 M 29084 0 3 CROCCP2,NBPF1 dgv58n100 1 16782184 16859426 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003821,nsv1013966,nsv1004735,nsv1000320,nsv1006493 M 29084 14 16 CROCCP2,MST1P2,NBPF1 nsv1008129 1 16782184 16885360 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475183,nssv3466515 M 29084 1 1 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 dgv59n100 1 16782184 16894856 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001891,nsv1006137,nsv1006458,nsv1008114,nsv1011340 M 29084 6 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv60n100 1 16782184 16902820 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013734,nsv997399 M 29084 0 2 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv61n100 1 16782184 16921054 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999929,nsv1011002,nsv1010704,nsv999541,nsv1006602 M 29084 32 7 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv62n100 1 16782184 16966641 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005387,nsv998373,nsv1007115,nsv1005218,nsv1009059 M 29084 8 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv63n100 1 16782184 17155662 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006712,nsv1013560,nsv1012664,nsv1003788,nsv1013554,nsv999319,nsv1004375,nsv1006276,nsv1012813,nsv1008466,nsv1002158,nsv1015052,nsv1011167,nsv1002264,nsv1005462 M 29084 22 0 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv160674 1 16783342 16789645 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179252 M 24 NBPF1 esv2597795 1 16795117 16841025 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5337771 M 1 1 0 CROCCP2,NBPF1 NA18507 dgv64n100 1 16795587 16843031 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004813,nsv1013386,nsv1004732 M 29084 0 6 CROCCP2,NBPF1 nsv998073 1 16795587 16843031 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470797,nssv3474789,nssv3463501,nssv3479724,nssv3698883,nssv3471934,nssv3476266,nssv3473772 M 29084 1 7 CROCCP2,NBPF1 dgv65n100 1 16795587 16987287 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005235,nsv997416,nsv1009781,nsv1002975,nsv1013754,nsv1008595,nsv1001363 M 29084 9 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv469795 1 16795827 16882680 CNV gain+loss Locke_et_al_2006 16826518 BAC aCGH nssv1675328,nssv1674398,nssv1675154,nssv1673678,nssv1675645,nssv1673499,nssv1672293,nssv1675644,nssv1674594,nssv1674737,nssv1676473,nssv1674784,nssv1673154,nssv1676008,nssv1674269,nssv1675932,nssv1673449,nssv1676452,nssv1673599,nssv1672656,nssv1673729,nssv1674352,nssv1676098,nssv1672101,nssv1675471,nssv1673422,nssv1675019,nssv1675283,nssv1672511,nssv1672065,nssv1675030,nssv1676350,nssv1676595,nssv1673706,nssv1673830,nssv1674196,nssv1672635,nssv1672226,nssv1675262,nssv1675165,nssv1673571,nssv1673029,nssv1675110,nssv1675604,nssv1672126,nssv1674026 M 265 45 1 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 nsv471655 1 16795828 16882680 CNV gain+loss Sharp_et_al_2005 15918152 BAC aCGH,FISH nssv550574,nssv550593,nssv550598,nssv550572,nssv550590,nssv550587,nssv550594,nssv550591,nssv550580,nssv550582,nssv550571,nssv550597,nssv550576,nssv550585,nssv550577,nssv550584,nssv550599,nssv550578,nssv550583,nssv550595,nssv550588,nssv550573,nssv550586,nssv550596,nssv550579,nssv550581,nssv550592,nssv550589,nssv550575 M 48 2 27 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 JK1051A,JK1058B,JK776,NA10469,NA10494,NA10495,NA10496,NA10967,NA10969,NA10976,NA10979,NA11521,NA11523,NA15724,NA15725,NA15726,NA15728,NA15730,NA15731,NA15732,NA15733,NA17014,NA17015,NA17016,NA17020,NA17051,NA17052,NA17059,P86GA dgv66n100 1 16798723 16921054 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004276,nsv1007303,nsv1004345,nsv1004477,nsv1007267,nsv1011696 M 29084 11 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv999755 1 16803904 16859426 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3462973 M 29084 1 0 CROCCP2,MST1P2,NBPF1 dgv67n100 1 16808531 16859426 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013795,nsv1013907 M 29084 7 2 CROCCP2,MST1P2,NBPF1 dgv68n100 1 16808531 16894856 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998431,nsv997494,nsv1001028 M 29084 4 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv69n100 1 16816188 16843031 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997712,nsv1008125 M 29084 0 3 CROCCP2 dgv70n100 1 16816188 16987287 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011567,nsv1001392,nsv1012231,nsv1002493 M 29084 7 8 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2 nsv3854 1 16817728 16837158 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3870 M 9 1 0 CROCCP2 NA12878 esv29948 1 16820714 17130584 CNV loss Wheeler_et_al_2008 18421352 Oligo aCGH,Sequencing essv84187 M 3 0 1 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2 WATSON dgv21n67 1 16825663 16979088 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821721,nsv821732 M 31 2 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2 AK14,NA18547 nsv1006849 1 16826346 16843031 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477604,nssv3471099,nssv3463231,nssv3475522 M 29084 2 2 CROCCP2 nsv1003602 1 16826346 16859426 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470239,nssv3464884 M 29084 0 2 CROCCP2,MST1P2 dgv71n100 1 16826346 16885360 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013865,nsv1009664 M 29084 0 2 CROCCP2,LOC729574,MIR3675,MST1P2 dgv72n100 1 16826346 16921054 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999674,nsv1002033,nsv1015120,nsv1003822 M 29084 13 5 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2 nsv1004433 1 16835888 16859426 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470088,nssv3471766,nssv3465301,nssv3698901,nssv3698902,nssv3466938,nssv3478593,nssv3469087 M 29084 2 6 MST1P2 dgv73n100 1 16835888 16885360 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002286,nsv1013392 M 29084 2 0 LOC729574,MIR3675,MST1P2 dgv74n100 1 16835888 16987287 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997837,nsv1006084,nsv1007699,nsv1001042,nsv1014092 M 29084 6 0 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 dgv75n100 1 16835888 17063437 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000053,nsv1008141 M 29084 3 0 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 dgv76n100 1 16838236 16921054 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006044,nsv1010979,nsv1009805,nsv1004954 M 29084 8 0 ESPNP,LOC729574,MIR3675,MST1P2 dgv77n100 1 16840700 16987002 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010902,nsv1005862,nsv1003231 M 29084 0 3 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 nsv436652 1 16847039 16955830 OTHER inversion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465873 M 2 0 0 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 NA18505 nsv945794 1 16851115 16855159 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756588,nssv1756616,nssv1756587,nssv1756604,nssv1756599,nssv1756630,nssv1756649,nssv1756602,nssv1756578,nssv1756634,nssv1756592,nssv1756627,nssv1756601,nssv1756619,nssv1756576,nssv1756611,nssv1756580,nssv1756596,nssv1756644,nssv1756625,nssv1756571,nssv1756614,nssv1756647,nssv1756593,nssv1756583,nssv1756617,nssv1756645,nssv1756615,nssv1756579,nssv1756637,nssv1756573,nssv1756628,nssv1756577,nssv1756621,nssv1756598,nssv1756605,nssv1756640,nssv1756620,nssv1756582,nssv1756603,nssv1756591,nssv1756607,nssv1756574,nssv1756632,nssv1756581,nssv1756631,nssv1756641,nssv1756606,nssv1756585,nssv1756638,nssv1756572,nssv1756608,nssv1756584,nssv1756618,nssv1756589,nssv1756639,nssv1756594,nssv1756570,nssv1756648,nssv1756622,nssv1756643,nssv1756633,nssv1756575,nssv1756624,nssv1756642,nssv1756612,nssv1756590,nssv1756636,nssv1756646,nssv1756623,nssv1756586,nssv1756609,nssv1756597,nssv1756595,nssv1756600,nssv1756629,nssv1756635,nssv1756626,nssv1756610,nssv1756613 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3385518 1 16851652 16861450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692036 M 185 1 0 "" NA19240 nsv945795 1 16855159 16882615 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753748,nssv1756697,nssv1753747,nssv1753756,nssv1753738,nssv1753732,nssv1756672,nssv1756695,nssv1756658,nssv1756688,nssv1753745,nssv1756703,nssv1756660,nssv1753726,nssv1753746,nssv1756683,nssv1756668,nssv1753758,nssv1756651,nssv1753749,nssv1753744,nssv1753750,nssv1756661,nssv1756690,nssv1756663,nssv1756699,nssv1756681,nssv1756692,nssv1753740,nssv1756676,nssv1753742,nssv1756715,nssv1756671,nssv1756710,nssv1756678,nssv1753759,nssv1756654,nssv1756701,nssv1756669,nssv1753735,nssv1756662,nssv1756682,nssv1756664,nssv1756691,nssv1756659,nssv1756704,nssv1756657,nssv1756708,nssv1756652,nssv1753755,nssv1756674,nssv1756673,nssv1753739,nssv1756714,nssv1756653,nssv1756694,nssv1756655,nssv1756705,nssv1753743,nssv1756707,nssv1756656,nssv1753753,nssv1756667,nssv1753734,nssv1756670,nssv1753736,nssv1756666,nssv1756706,nssv1756679,nssv1756712,nssv1756665,nssv1756685,nssv1756687,nssv1756696,nssv1756680,nssv1753729,nssv1756700,nssv1756650,nssv1756684,nssv1753727,nssv1753751,nssv1756693,nssv1756713,nssv1756698,nssv1753733,nssv1756709,nssv1753731,nssv1753737,nssv1756675,nssv1756689,nssv1756677,nssv1756702,nssv1753757,nssv1756711,nssv1756686,nssv1753728,nssv1753754 M 97 10 0 LOC729574,MIR3675 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1010635 1 16859426 17050540 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470355 M 29084 0 1 ESPNP,LOC729574,MIR3675,MST1L dgv78n100 1 16859426 17148816 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011033,nsv1013663,nsv997940,nsv1006962,nsv998520,nsv1007124,nsv999659,nsv998415,nsv998576,nsv1014131,nsv1005723,nsv999429,nsv1013047,nsv999821,nsv1003651,nsv1013086,nsv1009239,nsv1005714,nsv1011953,nsv1010564,nsv1007496,nsv1006624,nsv1001113,nsv1008540,nsv998952,nsv997587,nsv1004456,nsv1005992,nsv1009507,nsv1007084,nsv1005263 M 29084 0 37 CROCC,ESPNP,LOC729574,MIR3675,MST1L dgv51e59 1 16861952 16875450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3391515,esv3415606 M 185 2 0 LOC729574 NA19239,NA19240 nsv945573 1 16872574 16875793 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570223,nssv2570247,nssv2570281,nssv2570230,nssv2570197,nssv2570229,nssv2570213,nssv2570238,nssv2570279,nssv2570256,nssv2570210,nssv2570260,nssv2570217,nssv2570259,nssv2570202,nssv2570232,nssv2570218,nssv2570272,nssv2570205,nssv2570270,nssv2570277,nssv2570233,nssv2570227,nssv2570241,nssv2570207,nssv2570271,nssv2570204,nssv2570243,nssv2570212,nssv2570254,nssv2570200,nssv2570237,nssv2570276,nssv2570251,nssv2571157,nssv2570222,nssv2570199,nssv2570261,nssv2570208,nssv2570246,nssv2570216,nssv2570248,nssv2570211,nssv2570262,nssv2570278,nssv2570265,nssv2570219,nssv2570249,nssv2570203,nssv2570244,nssv2570273,nssv2570258,nssv2570215,nssv2570245,nssv2570201,nssv2570236,nssv2570221,nssv2570252,nssv2570280,nssv2570266,nssv2570206,nssv2570196,nssv2570274,nssv2570235,nssv2570214,nssv2570257,nssv2571156,nssv2570226,nssv2570228,nssv2570239,nssv2570269,nssv2570263,nssv2570268,nssv2570224,nssv2570225,nssv2570255,nssv2570240,nssv2570250,nssv2570234,nssv2570267 M 97 10 0 LOC729574 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv160333 1 16873514 16873824 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178911 M 24 "" nsv1005904 1 16878309 16894856 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481884 M 29084 1 0 ESPNP,MIR3675 dgv79n100 1 16878309 16918336 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012785,nsv1000863,nsv1012474,nsv1001470,nsv998430 M 29084 7 0 ESPNP,MIR3675 dgv80n100 1 16878309 16921054 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000264,nsv1009729,nsv1002159,nsv1000215,nsv1012493,nsv1010617,nsv1002906 M 29084 0 11 ESPNP,MIR3675 dgv81n100 1 16878309 16921054 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005534,nsv1012136,nsv1001394,nsv1004024,nsv1000798,nsv1012120,nsv1012643,nsv1010853,nsv1010324 M 29084 108 74 ESPNP,MIR3675 dgv82n100 1 16878309 16987287 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011193,nsv1011015,nsv1006268,nsv1011952,nsv1010255,nsv1012901,nsv1014668,nsv999715,nsv998337,nsv1006800,nsv1001537,nsv1009237,nsv1007149,nsv1001071,nsv997533 M 29084 54 116 ESPNP,LOC729574,MIR3675,MST1L dgv83n100 1 16878309 16987287 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000446,nsv997906,nsv1002351,nsv1011895,nsv1003921,nsv1002283,nsv1003320,nsv1004466,nsv1010185,nsv1011440,nsv997472,nsv999817,nsv1001021,nsv1013519,nsv1000749,nsv1005736,nsv1011126 M 29084 0 27 ESPNP,LOC729574,MIR3675,MST1L dgv84n100 1 16878309 17063437 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998297,nsv1003639,nsv1015070,nsv1013871,nsv1008697,nsv1013147,nsv999122 M 29084 14 0 ESPNP,LOC729574,MIR3675,MST1L dgv85n100 1 16878309 17101281 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998033,nsv1015029,nsv1011317,nsv1012272,nsv1006639,nsv997590,nsv1009673,nsv1007755,nsv998000,nsv997873 M 29084 11 0 ESPNP,LOC729574,MIR3675,MST1L dgv86n100 1 16878309 17155662 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009441,nsv1012661,nsv1013479,nsv997485,nsv1000042,nsv999369,nsv999527,nsv1002740,nsv997557,nsv999570,nsv1000831,nsv998741,nsv999997,nsv1011447,nsv1011507,nsv1011710,nsv1005933,nsv1013740,nsv1009568,nsv997327,nsv997761,nsv1015101,nsv998046,nsv1009482,nsv999387,nsv1009506,nsv1010977,nsv1014328,nsv1010964,nsv999758,nsv1014920,nsv999163,nsv1011194,nsv1008705,nsv1004677,nsv1007131 M 29084 62 0 CROCC,ESPNP,LOC729574,MIR3675,MST1L dgv87n100 1 16878553 16973452 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000936,nsv1000221,nsv1004982,nsv1002559,nsv998273,nsv1001556,nsv1001965,nsv1000417,nsv1014803,nsv1002334,nsv1007901,nsv1006166,nsv1003140,nsv1010159 M 29084 0 22 ESPNP,LOC729574,MIR3675,MST1L esv6890 1 16878776 16925145 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv29331 M 1 0 0 ESPNP,MIR3675 dgv158n54 1 16880491 16884828 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545646,nsv545644 M 17421 2 0 "" dgv159n54 1 16880491 16905404 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545662,nsv545648,nsv545645 M 17421 3 0 ESPNP nsv545647 1 16881046 16884027 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710847 M 17421 0 1 "" dgv2n6 1 16882144 16885348 CNV deletion Mills_et_al_2006 16902084 Sequencing nsv159492,nsv159352 M 24 "" dgv160n54 1 16882191 16884242 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545650,nsv545649 M 17421 0 3 "" dgv161n54 1 16882191 16884828 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545657,nsv545651 M 17421 8 0 "" dgv162n54 1 16882191 16885224 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545658,nsv545660,nsv545652 M 17421 0 4 "" nsv545653 1 16882191 16885282 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710860,nssv710859,nssv710862,nssv710861 M 17421 2 2 "" nsv545654 1 16882191 16905401 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710863 M 17421 0 1 ESPNP dgv163n54 1 16882781 16884523 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545655,nsv545656 M 17421 3 4 "" nsv545659 1 16882937 16884242 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710874 M 17421 0 1 "" nsv545661 1 16883150 16884828 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710878,nssv710877 M 17421 1 1 "" nsv1014742 1 16884025 16902820 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463641,nssv3475540,nssv3698924 M 29084 3 0 ESPNP dgv88n100 1 16884025 16907795 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003570,nsv1013125 M 29084 0 2 ESPNP dgv89n100 1 16884025 16966641 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997279,nsv1008943,nsv1010301,nsv1002602 M 29084 17 10 ESPNP,LOC729574,MST1L dgv90n100 1 16884025 16984134 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007643,nsv1002553,nsv1013618 M 29084 5 0 ESPNP,LOC729574,MST1L dgv91n100 1 16884025 17148816 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011647,nsv1007514,nsv1009637,nsv999959,nsv999721,nsv1002170,nsv1004244,nsv1011409,nsv1008657,nsv1002162,nsv1008211,nsv1015124,nsv1008334,nsv1014413,nsv1007278,nsv1001160,nsv1010885,nsv998199,nsv1013593,nsv1006669,nsv1010741,nsv1002043,nsv1005834,nsv1001591,nsv1000925,nsv1012011 M 29084 163 38 CROCC,ESPNP,LOC729574,MIR3675,MST1L dgv92n100 1 16884025 17202724 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001726,nsv1008435,nsv1003274 M 29084 3 0 ATP13A2,CROCC,ESPNP,LOC729574,MFAP2,MIR3675,MST1L nsv438303 1 16884242 16896887 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv469074,nssv468963,nssv468740,nssv468852 M 269 0 4 ESPNP NA12802,NA12815,NA19138,NA19139 esv33965 1 16884707 17152562 CNV gain+loss de_Smith_et_al_2007 17666407 Oligo aCGH essv101691,essv96937,essv97457,essv100280,essv93832,essv93286,essv95397,essv94591,essv95797,essv92701,essv97929,essv95690,essv101508,essv101115,essv96287,essv97172,essv99198,essv100427,essv93568,essv94416,essv100508,essv95548,essv93586,essv101652,essv101061,essv92596,essv99013,essv97317,essv96578,essv97738,essv95885,essv93056,essv98340,essv98164,essv94631,essv94915,essv95128,essv96504,essv97342 M 51 31 7 CROCC,ESPNP,LOC729574,MIR3675,MST1L 21603,21616,21618,21634,21693,21721,21772,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21944,22011,22075,22128,22170,22231,22233,22261,22275,22278,22286,22298,22300,22371 dgv93n100 1 16884765 16966641 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001620,nsv1013619,nsv1008172,nsv1006664 M 29084 6 0 ESPNP,LOC729574,MST1L esv2547944 1 16885327 16923389 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5366950 M 1 1 0 ESPNP NA18507 nsv945796 1 16885356 16887367 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754466,nssv1754441,nssv1753761,nssv1754431,nssv1754471,nssv1753790,nssv1753782,nssv1754420,nssv1754463,nssv1754448,nssv1753779,nssv1754422,nssv1753783,nssv1754449,nssv1753776,nssv1753799,nssv1753784,nssv1754443,nssv1754461,nssv1753789,nssv1754469,nssv1753795,nssv1754470,nssv1754480,nssv1753773,nssv1753797,nssv1753767,nssv1754476,nssv1753780,nssv1754477,nssv1753777,nssv1754435,nssv1753766,nssv1754418,nssv1753781,nssv1754416,nssv1754464,nssv1754459,nssv1753792,nssv1753760,nssv1754468,nssv1754439,nssv1753775,nssv1754437,nssv1753771,nssv1754421,nssv1753791,nssv1754446,nssv1753772,nssv1754424,nssv1753770,nssv1754438,nssv1753762,nssv1754451,nssv1753768,nssv1754452,nssv1753794,nssv1754428,nssv1754462,nssv1754472,nssv1753787,nssv1754453,nssv1753778,nssv1753793,nssv1753765,nssv1754474,nssv1753764,nssv1753786,nssv1753769,nssv1754425,nssv1754465,nssv1754433,nssv1754475,nssv1754419,nssv1754450,nssv1754482,nssv1754479,nssv1754440,nssv1754481,nssv1754454,nssv1754473,nssv1754430,nssv1753798,nssv1754417,nssv1753788,nssv1754429,nssv1754427,nssv1754457,nssv1754458,nssv1754432,nssv1754455,nssv1754442,nssv1754436,nssv1754460,nssv1754444,nssv1754447,nssv1754426 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv821743 1 16886175 16979088 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1437930 M 31 1 0 ESPNP,LOC729574,MST1L NA18951 nsv437204 1 16887281 16896887 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467085 M 60 0 1 ESPNP NA18506 nsv821754 1 16887848 16905451 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426377 M 31 1 0 ESPNP AK6 nsv821765 1 16887848 16926498 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440804 M 31 1 0 ESPNP NA18969 dgv94n100 1 16889653 17063437 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001202,nsv1013266,nsv1013007,nsv1010565,nsv1000649,nsv1009678,nsv1010728 M 29084 0 12 ESPNP,LOC729574,MIR3675,MST1L nsv819277 1 16891008 16926528 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418721 M 2 1 0 ESPNP AK1 nsv437205 1 16891707 16908818 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467086 M 60 0 1 ESPNP NA19139 esv3334984 1 16892652 16898350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692039 M 185 1 0 ESPNP NA19240 nsv437206 1 16896887 16955848 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467087 M 60 0 1 ESPNP,LOC729574,MST1L NA18863 dgv52e59 1 16902052 16998250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3377509,esv3418061,esv3347982,esv3350404 M 185 4 0 ESPNP,LOC729574,MST1L NA12878,NA12891,NA12892,NA19238 esv3419956 1 16902152 16913750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692043 M 185 1 0 ESPNP NA12892 dgv95n100 1 16902167 17090482 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998772,nsv999786,nsv998074,nsv1011776 M 29084 4 6 ESPNP,LOC729574,MIR3675,MST1L nsv545663 1 16905404 16919026 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710882,nssv710881,nssv710880 M 17421 0 3 ESPNP dgv164n54 1 16905404 16975997 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545668,nsv545664 M 17421 0 2 ESPNP,LOC729574,MST1L esv3372391 1 16907352 16964650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692045 M 185 1 0 ESPNP,LOC729574,MST1L NA19240 nsv511141 1 16907780 16919043 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625265 M 1 0 1 ESPNP 1 dgv165n54 1 16908187 16926496 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545665,nsv545666 M 17421 0 2 ESPNP nsv1009050 1 16908789 16984134 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482504 M 29084 0 1 ESPNP,LOC729574,MST1L nsv1013011 1 16909261 16987287 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475430 M 29084 1 0 ESPNP,LOC729574,MST1L nsv545667 1 16917098 16961637 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710886 M 17421 0 1 ESPNP,LOC729574,MST1L nsv1004978 1 16918033 16987287 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463375,nssv3700034,nssv3700033,nssv3480064,nssv3700035,nssv3482626,nssv3469518,nssv3474240,nssv3474852,nssv3470604 M 29084 3 7 ESPNP,LOC729574,MST1L nsv945797 1 16920746 16950113 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754575,nssv1754519,nssv1754573,nssv1754548,nssv1754505,nssv1754562,nssv1754569,nssv1754530,nssv1754486,nssv1754534,nssv1754484,nssv1754513,nssv1754499,nssv1754564,nssv1754497,nssv1754537,nssv1754485,nssv1754556,nssv1754570,nssv1754551,nssv1754493,nssv1754586,nssv1754504,nssv1754567,nssv1754578,nssv1754563,nssv1754506,nssv1754524,nssv1754502,nssv1754539,nssv1754490,nssv1754584,nssv1754514,nssv1754554,nssv1754494,nssv1754521,nssv1754498,nssv1754553,nssv1754492,nssv1754532,nssv1754501,nssv1754541,nssv1754572,nssv1754510,nssv1754571,nssv1754542,nssv1754488,nssv1754529,nssv1754574,nssv1754581,nssv1754507,nssv1754540,nssv1754576,nssv1754526,nssv1754517,nssv1754538,nssv1754496,nssv1754583,nssv1754568,nssv1754552,nssv1754503,nssv1754550,nssv1754509,nssv1754549,nssv1754495,nssv1754546,nssv1754515,nssv1754512,nssv1754491,nssv1754545,nssv1754487,nssv1754565,nssv1754543,nssv1754518,nssv1754525,nssv1754483,nssv1754560,nssv1754523,nssv1754520,nssv1754536,nssv1754557,nssv1754559,nssv1754582,nssv1754589,nssv1754516,nssv1754528,nssv1754585,nssv1754558,nssv1754527,nssv1754547,nssv1754561,nssv1754535,nssv1754579,nssv1754508,nssv1754531,nssv1754580,nssv1754587 M 97 10 0 LOC729574 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv96n100 1 16920771 17120461 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999455,nsv1008111,nsv1014855,nsv1003801,nsv1005541 M 29084 0 5 LOC729574,MIR3675,MST1L esv2440890 1 16923389 16926768 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5191715 M 1 1 0 "" NA18507 dgv22n67 1 16923424 16979241 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821810,nsv821787,nsv821776,nsv821798 M 31 4 0 LOC729574,MST1L AK16,AK18,AK2,AK4 nsv3965 1 16925098 16957629 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5340,nssv3893 M 9 2 0 LOC729574,MST1L NA12878,NA19129 esv3423215 1 16931052 16943650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692048 M 185 1 0 LOC729574 NA19239 nsv436227 1 16934681 17059410 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465895 M 2 0 1 MIR3675,MST1L NA18505 nsv436024 1 16935707 17060890 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465906 M 2 1 0 MIR3675,MST1L NA15510 nsv498664 1 16944010 16945799 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585404 M 9 0 1 "" esv3430695 1 16944752 16958350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692049 M 185 1 0 MST1L NA19239 nsv945798 1 16950113 16954997 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754606,nssv1754644,nssv1754601,nssv1754635,nssv1754673,nssv1754641,nssv1754612,nssv1754615,nssv1754591,nssv1754628,nssv1754672,nssv1754639,nssv1754602,nssv1754656,nssv1754616,nssv1754637,nssv1754674,nssv1754627,nssv1754668,nssv1754666,nssv1754604,nssv1754655,nssv1754613,nssv1754623,nssv1754597,nssv1754646,nssv1754622,nssv1754647,nssv1754608,nssv1754619,nssv1754592,nssv1754638,nssv1754593,nssv1754626,nssv1754611,nssv1754618,nssv1754598,nssv1754640,nssv1754605,nssv1754658,nssv1754675,nssv1754662,nssv1754620,nssv1754652,nssv1754595,nssv1754645,nssv1754614,nssv1754630,nssv1754670,nssv1754650,nssv1754609,nssv1754660,nssv1754603,nssv1754661,nssv1754596,nssv1754659,nssv1754669,nssv1754664,nssv1754607,nssv1754657,nssv1754594,nssv1754633,nssv1754667,nssv1754651,nssv1754600,nssv1754636,nssv1754677,nssv1754648,nssv1754624,nssv1754617,nssv1754671,nssv1754649,nssv1754663,nssv1754629,nssv1754642,nssv1754653,nssv1754634,nssv1754631,nssv1754625,nssv1754590 M 97 10 0 MST1L HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945799 1 16954997 16998477 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754688,nssv1754678,nssv1754680,nssv1754683,nssv1754684,nssv1754689,nssv1754685,nssv1754679,nssv1754686,nssv1754682,nssv1754681 M 97 10 0 MST1L HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv97n100 1 16955166 17087397 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004882,nsv1005831 M 29084 2 0 MIR3675,MST1L dgv98n100 1 16955166 17090482 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004332,nsv1008126 M 29084 4 4 MIR3675,MST1L dgv99n100 1 16955166 17133193 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000077,nsv1008985,nsv999210,nsv1010567,nsv1001925,nsv1000155,nsv1007639,nsv997860,nsv1000802,nsv1014999,nsv1008933,nsv1007409,nsv1004797,nsv1002935,nsv1013823,nsv999921,nsv1013930,nsv997752,nsv1000045,nsv1014038,nsv1012802,nsv999357,nsv1009739,nsv999593,nsv1005147 M 29084 0 32 CROCC,MIR3675,MST1L dgv100n100 1 16955166 17134822 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010566,nsv1009553,nsv1010272,nsv998287,nsv1009667,nsv1004399,nsv1007468,nsv1009109,nsv1005842,nsv1005610,nsv1004484,nsv1014720,nsv1012353,nsv1012187 M 29084 49 30 CROCC,MIR3675,MST1L dgv101n100 1 16955166 17158894 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997588,nsv997704,nsv997522,nsv1006989,nsv1010245,nsv1012064,nsv1004987,nsv1010868,nsv1008997,nsv999848,nsv1005424,nsv1014863,nsv1001823,nsv1013757 M 29084 23 0 CROCC,MIR3675,MST1L esv3414600 1 16958852 16960850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692050 M 185 1 0 MST1L NA19239 nsv1011815 1 16961924 17148816 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471830 M 29084 0 1 CROCC,MIR3675,MST1L dgv102n100 1 16965832 17134822 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009095,nsv1012410,nsv1002748,nsv1008238,nsv999158,nsv1000621,nsv1014401,nsv1005801 M 29084 18 0 CROCC,MIR3675 esv3424787 1 16968552 16977950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692051 M 185 1 0 "" NA19240 esv3397521 1 16978752 16980850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692052 M 185 1 0 "" NA19240 dgv103n100 1 16983871 17112042 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006978,nsv999083 M 29084 0 2 MIR3675 esv3408780 1 16989652 16991550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692054 M 185 1 0 "" NA19238 esv3348545 1 16992752 16997950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692055 M 185 1 0 "" NA19238 nsv945800 1 17047977 17154591 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754694,nssv1755817,nssv1754701,nssv1755790,nssv1755835,nssv1755798,nssv1754691,nssv1755856,nssv1754712,nssv1755854,nssv1754692,nssv1754690,nssv1754704,nssv1755820,nssv1754700,nssv1755833,nssv1754713,nssv1755796,nssv1754697,nssv1754715,nssv1754714,nssv1755812,nssv1754708,nssv1755802,nssv1754693,nssv1755813,nssv1754706,nssv1755794,nssv1755841,nssv1755807,nssv1755843,nssv1755805,nssv1754699,nssv1755799,nssv1754722,nssv1755795,nssv1754711,nssv1755788,nssv1754695,nssv1755822,nssv1755838,nssv1755786,nssv1754703,nssv1755804,nssv1754696,nssv1755849,nssv1755837,nssv1755818,nssv1754705,nssv1755819,nssv1754716,nssv1755787,nssv1754702,nssv1755821,nssv1755839,nssv1754723,nssv1755845,nssv1754719,nssv1755785,nssv1755793,nssv1755840,nssv1755815,nssv1755844,nssv1755791,nssv1754721,nssv1755846,nssv1754707,nssv1755810,nssv1754710,nssv1755824,nssv1755842,nssv1754718,nssv1755800,nssv1755851,nssv1755797,nssv1755829,nssv1755789,nssv1755806,nssv1755827,nssv1755808,nssv1755830,nssv1754717,nssv1755853,nssv1755809,nssv1755823,nssv1755826,nssv1755831,nssv1755832,nssv1755852,nssv1755848,nssv1755811,nssv1755816,nssv1755801,nssv1755855,nssv1755828,nssv1755834,nssv1755850 M 97 10 0 CROCC,MIR3675 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv26111 1 17048309 17154340 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv11182,esv11657,esv20155,esv15416,esv15181,esv20295,esv18904,esv16106 M 40 16 11 CROCC,MIR3675 NA07037,NA07045,NA11894,NA11993,NA12156,NA12414,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv821037 1 17048309 17154340 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420258 M 1 1 0 CROCC,MIR3675 NA10851 esv3422357 1 17048452 17053150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692056 M 185 1 0 "" NA12891 dgv53e59 1 17048452 17055050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3328740,esv3367003,esv3353084,esv3366548,esv3333777 M 185 5 0 "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv545669 1 17049451 17067767 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710888 M 17421 0 1 MIR3675 nsv1014044 1 17049620 17108845 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478018 M 29084 1 0 MIR3675 dgv104n100 1 17049620 17133838 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006496,nsv1002830,nsv1005785,nsv1013384,nsv1013495,nsv1012582,nsv997607,nsv1014805,nsv1011896,nsv1006089,nsv1007033,nsv1012137,nsv1006260,nsv998760,nsv1003243,nsv1005329,nsv1012431,nsv1001652,nsv998988,nsv1012591,nsv1010819,nsv1011464 M 29084 0 32 CROCC,MIR3675 dgv105n100 1 17049620 17134822 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000195,nsv1014380,nsv1007098,nsv1014409,nsv1006056,nsv1012503,nsv1001788,nsv1010291,nsv1005985,nsv1004202,nsv1003050,nsv1002929,nsv1008038,nsv1008693,nsv1006120,nsv1013701 M 29084 298 82 CROCC,MIR3675 dgv106n100 1 17049620 17134822 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003238,nsv1008080,nsv1012349,nsv1012933,nsv1005399,nsv1002084,nsv1006917,nsv1007186,nsv1014435,nsv1005672,nsv1009803,nsv999892,nsv1013559 M 29084 19 0 CROCC,MIR3675 nsv1006828 1 17049620 17148816 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3474179,nssv3477410,nssv3464892,nssv3477926,nssv3464446,nssv3471291,nssv3465003,nssv3470456,nssv3700135,nssv3480631,nssv3462769,nssv3477465,nssv3467228,nssv3700137,nssv3700136,nssv3700138,nssv3474178,nssv3479165,nssv3467984,nssv3463758,nssv3471245,nssv3464272,nssv3482066,nssv3476691 M 29084 23 1 CROCC,MIR3675 dgv107n100 1 17049620 17176419 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999751,nsv1002758,nsv1006648,nsv1005053,nsv1013621 M 29084 14 0 CROCC,MFAP2,MIR3675 dgv108n100 1 17049620 17209452 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999404,nsv1001977 M 29084 2 0 ATP13A2,CROCC,MFAP2,MIR3675 nsv834258 1 17049946 17153536 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443407,nssv1443418,nssv1443395 M 95 0 3 CROCC,MIR3675 nsv834269 1 17054365 17237613 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443584,nssv1443640,nssv1443473,nssv1443540,nssv1443629,nssv1443506,nssv1443484,nssv1443518,nssv1443551,nssv1443462,nssv1443595,nssv1443529,nssv1443440,nssv1443573,nssv1443451,nssv1443651,nssv1443495,nssv1443606,nssv1443429,nssv1443617,nssv1443662,nssv1443562 M 95 0 22 ATP13A2,CROCC,MFAP2,MIR3675,SDHB dgv109n100 1 17055012 17120973 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003512,nsv1014579,nsv1011863,nsv998234 M 29084 9 12 MIR3675 dgv166n54 1 17055702 17155012 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545670,nsv545671 M 17421 3 5 CROCC,MIR3675 nsv545672 1 17055702 17172570 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710897 M 17421 0 1 CROCC,MIR3675 dgv54e59 1 17055752 17148950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3406942,esv3380286 M 185 2 0 CROCC,MIR3675 NA19239,NA19240 esv3354837 1 17059052 17061550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692063 M 185 1 0 "" NA19238 dgv110n100 1 17063437 17120461 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009221,nsv1014452,nsv1010407,nsv1010206,nsv1013536,nsv1014375 M 29084 0 8 "" dgv111n100 1 17063437 17167787 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000622,nsv1006180,nsv1014411,nsv998363,nsv1005199,nsv1008482 M 29084 25 0 CROCC esv990069 1 17063449 17134834 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586006 M 3 0 1 CROCC HuRef dgv55e59 1 17067252 17078250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3329394,esv3326251 M 185 2 0 "" NA12878,NA19238 esv3584587 1 17067742 17134834 CNV gain Mokhtar_et_al_2014 24956385 SNP array essv9838720,essv9838719 M 34 2 0 CROCC KSM006,KSM008 nsv442727 1 17067742 17134834 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1617515,nssv1617546,nssv1617542,nssv1617551,nssv1617473,nssv1617492,nssv1617500,nssv1617566,nssv1617497,nssv1617523,nssv1617422,nssv1617575,nssv1617561,nssv1617496,nssv1617421,nssv1617512,nssv1617552,nssv1617623,nssv1617598,nssv1617501,nssv1617521,nssv1617550,nssv1617430,nssv1617424,nssv1617539,nssv1617584,nssv1617461,nssv1617437,nssv1617454,nssv1617457,nssv1617508,nssv1617459,nssv1617443,nssv1617553,nssv1617632,nssv1617589,nssv1617471,nssv1617578,nssv1617475,nssv1617560,nssv1617488,nssv1617456,nssv1617434,nssv1617470,nssv1617545,nssv1617431,nssv1617582,nssv1617621,nssv1617624,nssv1617452,nssv1617509,nssv1617563,nssv1617489,nssv1617606,nssv1617574,nssv1617616,nssv1617609,nssv1617572,nssv1617468,nssv1617587,nssv1617518,nssv1617594,nssv1617499,nssv1617463,nssv1617590,nssv1617617,nssv1617554,nssv1617486,nssv1617581,nssv1617619,nssv1617426,nssv1617464,nssv1617596,nssv1617631,nssv1617494,nssv1617577,nssv1617453,nssv1617441,nssv1617487,nssv1617627,nssv1617522,nssv1617573,nssv1617419,nssv1617524,nssv1617556,nssv1617438,nssv1617513,nssv1617585,nssv1617527,nssv1617618,nssv1617510,nssv1617530,nssv1617520,nssv1617445,nssv1617416,nssv1617406,nssv1617629,nssv1617533,nssv1617451,nssv1617490,nssv1617586,nssv1617405,nssv1617593,nssv1617564,nssv1617432,nssv1617534,nssv1617428,nssv1617562,nssv1617626,nssv1617567,nssv1617417,nssv1617423,nssv1617504,nssv1617467,nssv1617565,nssv1617418,nssv1617541,nssv1617477,nssv1617517,nssv1617528,nssv1617440,nssv1617415,nssv1617410,nssv1617597,nssv1617409,nssv1617570,nssv1617465,nssv1617449,nssv1617600,nssv1617483,nssv1617519,nssv1617599,nssv1617462,nssv1617548,nssv1617605,nssv1617498,nssv1617444,nssv1617607,nssv1617474,nssv1617439,nssv1617511,nssv1617628,nssv1617484,nssv1617592,nssv1617476,nssv1617481,nssv1617538,nssv1617448,nssv1617442,nssv1617544,nssv1617612,nssv1617427,nssv1617555,nssv1617604,nssv1617601,nssv1617466,nssv1617482,nssv1617526,nssv1617603,nssv1617529,nssv1617455,nssv1617571,nssv1617535,nssv1617446,nssv1617413,nssv1617433,nssv1617472,nssv1617540,nssv1617608,nssv1617516,nssv1617493,nssv1617435,nssv1617411,nssv1617588,nssv1617495,nssv1617559,nssv1617402,nssv1617557,nssv1617450,nssv1617537,nssv1617532,nssv1617507,nssv1617615,nssv1617622,nssv1617429,nssv1617420,nssv1617505,nssv1617630,nssv1617404,nssv1617543,nssv1617611,nssv1617610,nssv1617583,nssv1617478,nssv1617576,nssv1617579,nssv1617549,nssv1617568,nssv1617408,nssv1617595,nssv1617620,nssv1617479,nssv1617506,nssv1617460,nssv1617531,nssv1617485,nssv1617412,nssv1617407 M 270 208 0 CROCC NA06985,NA06991,NA07022,NA07029,NA07034,NA07048,NA07345,NA10835,NA10838,NA10846,NA10847,NA10851,NA10854,NA10855,NA10857,NA10860,NA10861,NA10863,NA11831,NA11832,NA11840,NA11992,NA11994,NA12003,NA12004,NA12005,NA12006,NA12044,NA12056,NA12057,NA12144,NA12154,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12717,NA12740,NA12751,NA12752,NA12753,NA12760,NA12762,NA12812,NA12813,NA12814,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18524,NA18526,NA18529,NA18532,NA18537,NA18540,NA18542,NA18545,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18594,NA18603,NA18605,NA18612,NA18620,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18862,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18997,NA18998,NA18999,NA19000,NA19005,NA19007,NA19012,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19192,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223,NA19239,NA19240 nsv1008351 1 17076072 17108845 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477663,nssv3465556,nssv3482661,nssv3480147,nssv3468385,nssv3469546 M 29084 1 5 "" dgv112n100 1 17076072 17120973 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011785,nsv1011411,nsv1005092,nsv1014469,nsv1004370,nsv1006185,nsv1004806,nsv1006571,nsv1006653,nsv1012168 M 29084 0 14 "" dgv113n100 1 17076072 17133838 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009920,nsv1003988,nsv1006577,nsv1000445 M 29084 6 0 CROCC dgv114n100 1 17076072 17134822 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007034,nsv1010879,nsv1012863,nsv997581,nsv1004714,nsv1013140,nsv1003420,nsv1009055 M 29084 88 88 CROCC dgv115n100 1 17076072 17134822 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002932,nsv1010636,nsv999057,nsv1011835,nsv999493,nsv1006216,nsv1011009,nsv1002908,nsv1001379,nsv1002717,nsv1008910,nsv999431,nsv1013372,nsv1005607,nsv1013913,nsv1001034 M 29084 0 39 CROCC dgv116n100 1 17076072 17148816 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999974,nsv998222,nsv1012812 M 29084 32 6 CROCC dgv23n67 1 17080164 17145194 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821821,nsv821832 M 31 2 0 CROCC NA18547,NA18592 nsv433184 1 17081038 17135964 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463065 M 9 0 1 CROCC NA12156 esv29988 1 17081919 17124754 CNV loss Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv84227 M 2 0 1 CROCC HuRef dgv117n100 1 17082178 17134822 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014213,nsv1007304,nsv1003197,nsv1011151,nsv1010217 M 29084 13 18 CROCC esv2421455 1 17082190 17140083 CNV duplication Altshuler_et_al_2010 20811451 SNP array essv5114338,essv5089028,essv5114781,essv5119277,essv5042829,essv5058264,essv5030908,essv5012630,essv5076924,essv5017332,essv5081290,essv5141602,essv5117997,essv5105808,essv5123196,essv5081176,essv5018174,essv5046246,essv5020555,essv5139651,essv5081157,essv5012897,essv5054086,essv5106735,essv5099069,essv5129083,essv5160425,essv5034838,essv5139328,essv5144065,essv5022960,essv5042625,essv5010139,essv5127811,essv5053255,essv5128315,essv5159525,essv5071647,essv5100613,essv5045095,essv5051979,essv5048138,essv5055362,essv5105050,essv5032170,essv5105069,essv5058603,essv5023433,essv5046901,essv5057110,essv5057556,essv5063794,essv5155913,essv5016117,essv5096642,essv5134308,essv5031356,essv5088681,essv5103778,essv5129159,essv5004085,essv5152014,essv5120699,essv5130594,essv5125312,essv5020880,essv5146488,essv5095343,essv5152363,essv5048396,essv5037567,essv5037484,essv5116384,essv5098315,essv5123038,essv5103759,essv5032469,essv5103826,essv5133449,essv5047460,essv5054059,essv5117115,essv5121490,essv5138727,essv5019753,essv5033120,essv5019386,essv5031413,essv5127846,essv5060130,essv5117717,essv5153278,essv5085304,essv5098055,essv5007838,essv5049144,essv5072329,essv5103379,essv5157199,essv5110120,essv5122630,essv5157797,essv5088205,essv5017890,essv5065233,essv5041169,essv5039517,essv5007779,essv5115989,essv5017379,essv5027419,essv5052461,essv5148185,essv5045249,essv5101825,essv5015131,essv5076127,essv5117492,essv5145900,essv5014180,essv5128349,essv5156813,essv5160036,essv5094810,essv5031308,essv5014694,essv5021931,essv5064371,essv5013009,essv5124285,essv5041804,essv5148464,essv5072067,essv5016687,essv5028561,essv5048297,essv5026732,essv5008007,essv5008791,essv5115772,essv5019668,essv5049622,essv5136646,essv5089140,essv5021994,essv5047898,essv5083861,essv5071772,essv5055429,essv5134440,essv5014810,essv5123032,essv5119235,essv5042300,essv5016987,essv5101502,essv5085767,essv5126766,essv5082199,essv5063672,essv5147022,essv5152305,essv5015446,essv5018177,essv5130528,essv5124020,essv5064968,essv5142604,essv5075339,essv5024108,essv5092744,essv5112080,essv5047004,essv5125769,essv5132756,essv5017794,essv5091443,essv5105512,essv5160797,essv5024608,essv5091243,essv5088248,essv5090795,essv5135370,essv5052144,essv5083755,essv5064258,essv5148048,essv5061722,essv5082948,essv5071444,essv5060546,essv5143110,essv5040865,essv5069059,essv5146556,essv5146796,essv5004444,essv5083668,essv5069410,essv5158152,essv5084379,essv5129387,essv5081843,essv5122596,essv5030592,essv5022653,essv5024519,essv5007504,essv5059549,essv5042763,essv5030387,essv5009191,essv5032473,essv5040328,essv5094626,essv5038258,essv5147309,essv5065387,essv5041980,essv5075073,essv5035883,essv5148378,essv5113041,essv5032316,essv5117284,essv5112594,essv5140347,essv5028085,essv5008000,essv5074373,essv5140684,essv5085965,essv5032394,essv5129917,essv5018172,essv5097008,essv5002204,essv5045172,essv5101186,essv5098068,essv5058964,essv5111040,essv5127738,essv5043721,essv5044898,essv5130948,essv5009826,essv5039926,essv5107567,essv5139461,essv5149250,essv5093717,essv5106448,essv5077016,essv5016821,essv5038858,essv5050331,essv5095772,essv5051588,essv5048413,essv5056651,essv5100525,essv5115978,essv5157953,essv5157378,essv5103771,essv5119616,essv5037077,essv5007479,essv5010067,essv5026844,essv5036913,essv5139551,essv5044467,essv5005847,essv5158627,essv5044987,essv5012961,essv5003156,essv5075151,essv5095836,essv5115411,essv5131593,essv5122841,essv5079291,essv5121456,essv5110707,essv5155596,essv5085695,essv5145356,essv5060750,essv5122188,essv5089151,essv5110538,essv5064110,essv5059367,essv5084910,essv5003961,essv5046441,essv5120412,essv5070319,essv5031423,essv5090637,essv5084421,essv5026223,essv5063353,essv5096160,essv5141036,essv5019224,essv5157006,essv5047389,essv5056144,essv5141584,essv5092490,essv5029838,essv5090302,essv5133460,essv5113457,essv5113019,essv5035947,essv5133752,essv5008077,essv5114037,essv5093849,essv5041116,essv5057016,essv5040787,essv5048257,essv5124993,essv5019407,essv5119844,essv5006519,essv5136108,essv5040406,essv5039821,essv5065940,essv5159889,essv5114395,essv5043135,essv5085115,essv5051338,essv5066867,essv5106778,essv5055998,essv5119346,essv5045712,essv5051479,essv5045814,essv5066838,essv5015676,essv5022740,essv5018074,essv5027457,essv5017352,essv5103415,essv5114829,essv5109059,essv5051919,essv5050900,essv5048230,essv5151985,essv5121681,essv5082429,essv5081263,essv5160920,essv5044592,essv5011659,essv5084521,essv5077558,essv5142986,essv5130485,essv5083100,essv5113280,essv5016066,essv5052392,essv5129041,essv5037760,essv5093178,essv5096519,essv5076373,essv5123076,essv5035516,essv5072970,essv5060841,essv5054766,essv5121029,essv5045959,essv5046536,essv5108682,essv5097100,essv5090873,essv5084952,essv5046748,essv5143147,essv5154202,essv5103961,essv5059805,essv5123887,essv5080865,essv5150991,essv5099230,essv5066756,essv5102792,essv5111876,essv5102812,essv5020012,essv5078545,essv5087014,essv5002508,essv5006977,essv5087089,essv5137317,essv5099962,essv5030657,essv5021138,essv5130918,essv5076785,essv5138642,essv5156413,essv5118820,essv5004269,essv5044837,essv5107317,essv5105600,essv5117088,essv5124242,essv5084771,essv5004468,essv5065761,essv5049316,essv5056899,essv5051893,essv5134265,essv5075006,essv5021274,essv5049633,essv5092788,essv5109258,essv5094424,essv5095692,essv5027238,essv5090458,essv5086298,essv5085316,essv5042364,essv5059149,essv5016348,essv5091838,essv5057304,essv5065490,essv5056012,essv5093740,essv5133688,essv5149086,essv5006467,essv5079526,essv5158666,essv5101859,essv5074418,essv5114019,essv5088408,essv5088822,essv5150313,essv5035906,essv5116575,essv5121813,essv5092709,essv5026768,essv5065977,essv5011869,essv5124305,essv5086531,essv5146549,essv5079108,essv5130731,essv5104607,essv5136757,essv5045942,essv5149295,essv5105480,essv5102689,essv5004154,essv5006490,essv5083014,essv5152392,essv5130484,essv5136376,essv5091035,essv5106194,essv5040075,essv5016691,essv5117269,essv5061003,essv5117383,essv5099226,essv5076075,essv5142856,essv5142022,essv5080701,essv5117231,essv5133655,essv5089240,essv5075932,essv5076471,essv5135969,essv5069984,essv5065477,essv5021954,essv5015485,essv5159643,essv5087882,essv5101695,essv5156750,essv5027231,essv5047555,essv5138662,essv5062523,essv5050835,essv5026386,essv5054193,essv5086846,essv5075234,essv5064954,essv5104936,essv5007503,essv5098012,essv5030388,essv5029256,essv5056267,essv5139716,essv5130675,essv5048475,essv5004579,essv5037942,essv5098226,essv5053715,essv5047063,essv5032830,essv5039437,essv5104436,essv5110435,essv5119538,essv5110166,essv5159156,essv5095375,essv5143890,essv5062068,essv5091949,essv5101426,essv5080108,essv5111824,essv5002999,essv5118129,essv5077378,essv5135966,essv5085572,essv5155086,essv5047731,essv5053053,essv5117452,essv5074168,essv5009278,essv5121078,essv5081270,essv5150465,essv5120827,essv5020252,essv5073684,essv5109355,essv5128068,essv5104802,essv5121988,essv5125345,essv5084328,essv5096648,essv5117045,essv5030042,essv5072259,essv5157311,essv5095894,essv5049281,essv5126792,essv5046634,essv5121588,essv5130759,essv5078659,essv5037850,essv5009673,essv5065965,essv5041587,essv5103322,essv5054318,essv5021911,essv5097885,essv5125865,essv5103126,essv5147205,essv5160258,essv5022891,essv5092816,essv5079599,essv5025494,essv5075589,essv5065791,essv5111803,essv5024133,essv5127120,essv5115299,essv5061412,essv5112506,essv5028001,essv5144538,essv5033382,essv5155101,essv5098036,essv5008849,essv5030913,essv5028804,essv5069245,essv5048632,essv5041206,essv5109088,essv5113637,essv5003922,essv5123097,essv5147835,essv5007786,essv5133764,essv5064272,essv5112366,essv5002754,essv5060560,essv5107122,essv5098676,essv5086014,essv5014507,essv5147986,essv5106741,essv5056874,essv5104217,essv5152984,essv5019727,essv5114344,essv5036337,essv5039612,essv5033107,essv5137608,essv5086692,essv5157609,essv5071800,essv5153944,essv5018347,essv5147504,essv5055587,essv5115933,essv5147413,essv5055154,essv5002576,essv5083720,essv5058411,essv5078527,essv5041786,essv5157375,essv5100179,essv5050841,essv5097921,essv5032089,essv5072037,essv5153097,essv5102550,essv5145666,essv5054679,essv5070553,essv5014326,essv5035199,essv5029931,essv5093977,essv5048039,essv5010821,essv5135140,essv5134811,essv5052108,essv5030772,essv5028380,essv5025020,essv5085246,essv5026459,essv5014551,essv5065875,essv5105240,essv5030022,essv5067082,essv5086951,essv5079911,essv5127759,essv5016121,essv5104214,essv5067874,essv5143686,essv5051004,essv5126598,essv5115530,essv5151178,essv5146134,essv5099314,essv5024993,essv5038223,essv5036548,essv5006951,essv5051739,essv5089873,essv5058107,essv5123426,essv5110272,essv5047562,essv5159099,essv5127109,essv5029426,essv5058801,essv5079342,essv5009030,essv5096769,essv5024780,essv5090798,essv5128838,essv5134482,essv5092468,essv5096754,essv5114680,essv5004735,essv5043975,essv5057234,essv5103855,essv5006182,essv5136215,essv5099089,essv5134163,essv5084304,essv5021628,essv5010456,essv5086652,essv5148716,essv5128868,essv5043100,essv5116817,essv5128437,essv5071137,essv5102014,essv5005212,essv5027775,essv5131352,essv5007344,essv5063859,essv5005544,essv5006744,essv5008648,essv5066068,essv5028158,essv5076493,essv5114280,essv5053913,essv5134195,essv5070821,essv5060943,essv5068855,essv5146659,essv5033589,essv5055357,essv5112549,essv5106431,essv5064411,essv5062035,essv5074466,essv5065850,essv5051143,essv5160566,essv5007467,essv5105478,essv5143625,essv5111201,essv5083511,essv5107641,essv5124332,essv5054964,essv5066540,essv5133749,essv5159082,essv5106798,essv5061190,essv5006486,essv5078913,essv5119957,essv5017049,essv5091264,essv5045122,essv5088695,essv5111478,essv5058624,essv5102184,essv5151782,essv5135041,essv5022534,essv5133268,essv5130303,essv5096269,essv5145780,essv5051017,essv5056674,essv5107685,essv5136415,essv5105910,essv5009199,essv5057255,essv5009440,essv5079835,essv5096758,essv5153800,essv5090959,essv5039355,essv5003158,essv5152822,essv5101917,essv5047270,essv5086003,essv5097936,essv5094689,essv5061673,essv5118836,essv5002555,essv5021982,essv5071290,essv5078646,essv5108762,essv5113257,essv5064028,essv5077283,essv5032435,essv5034553,essv5103286,essv5026401,essv5059015,essv5136324,essv5135695,essv5048317,essv5071124,essv5152854,essv5076597,essv5103479,essv5032838 M 1184 850 0 CROCC NA06984,NA06985,NA06986,NA06991,NA06995,NA06997,NA07000,NA07014,NA07022,NA07031,NA07045,NA07051,NA07345,NA07346,NA07347,NA07349,NA07435,NA10835,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10861,NA10863,NA10865,NA11831,NA11832,NA11840,NA11843,NA11891,NA11892,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12154,NA12234,NA12248,NA12264,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12342,NA12344,NA12347,NA12375,NA12383,NA12399,NA12400,NA12413,NA12489,NA12708,NA12740,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12762,NA12763,NA12766,NA12776,NA12778,NA12812,NA12813,NA12814,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17974,NA17975,NA17976,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18144,NA18146,NA18150,NA18152,NA18153,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18610,NA18612,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18694,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18854,NA18855,NA18857,NA18859,NA18860,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18911,NA18912,NA18914,NA18916,NA18923,NA18924,NA18925,NA18930,NA18933,NA18935,NA18939,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19038,NA19044,NA19046,NA19054,NA19056,NA19059,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19077,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19088,NA19093,NA19094,NA19095,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19114,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19161,NA19172,NA19175,NA19176,NA19179,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19208,NA19209,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19391,NA19393,NA19394,NA19396,NA19398,NA19399,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19451,NA19452,NA19456,NA19457,NA19463,NA19467,NA19468,NA19471,NA19474,NA19625,NA19649,NA19650,NA19651,NA19653,NA19657,NA19658,NA19659,NA19662,NA19663,NA19664,NA19665,NA19675,NA19677,NA19678,NA19680,NA19685,NA19686,NA19703,NA19704,NA19705,NA19708,NA19712,NA19713,NA19714,NA19719,NA19720,NA19721,NA19723,NA19724,NA19726,NA19748,NA19750,NA19751,NA19755,NA19756,NA19759,NA19761,NA19762,NA19770,NA19771,NA19772,NA19773,NA19777,NA19789,NA19794,NA19796,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19914,NA19915,NA19916,NA19917,NA19918,NA19921,NA19982,NA19983,NA20126,NA20129,NA20279,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20341,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20363,NA20502,NA20505,NA20506,NA20508,NA20510,NA20512,NA20517,NA20518,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20534,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20769,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20792,NA20795,NA20796,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20849,NA20851,NA20853,NA20854,NA20856,NA20858,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20883,NA20885,NA20887,NA20888,NA20890,NA20891,NA20892,NA20894,NA20906,NA20907,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21102,NA21103,NA21106,NA21108,NA21109,NA21113,NA21115,NA21118,NA21119,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21309,NA21316,NA21318,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21418,NA21421,NA21423,NA21435,NA21436,NA21439,NA21440,NA21441,NA21447,NA21448,NA21451,NA21454,NA21455,NA21457,NA21473,NA21476,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21513,NA21517,NA21520,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21631,NA21632,NA21634,NA21635,NA21648,NA21678,NA21682,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21723,NA21733,NA21738,NA21739,NA21768,NA21776,NA21784,NA21825 dgv118n100 1 17085289 17148816 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997739,nsv1000008 M 29084 4 0 CROCC nsv545673 1 17086470 17091065 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710898 M 17421 0 1 "" nsv834280 1 17087300 17322088 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443741,nssv1443728,nssv1443695,nssv1443717,nssv1443752,nssv1443706,nssv1443684,nssv1443673 M 95 0 8 ATP13A2,CROCC,MFAP2,PADI2,SDHB nsv437207 1 17089852 17129889 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467088 M 60 0 1 CROCC NA19208 dgv119n100 1 17089978 17131895 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007159,nsv1003614,nsv1004952 M 29084 4 0 CROCC dgv120n100 1 17089978 17197020 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000630,nsv1013544,nsv1005792 M 29084 3 0 ATP13A2,CROCC,MFAP2 dgv167n54 1 17091860 17123160 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545675,nsv545674 M 17421 0 2 CROCC dgv24n67 1 17095279 17145222 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821876,nsv821887,nsv821843 M 31 3 0 CROCC NA18552,NA18566,NA18947 nsv1004093 1 17097545 17130714 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472352,nssv3479262,nssv3477505 M 29084 1 2 CROCC dgv121n100 1 17097545 17134822 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004277,nsv1004027,nsv1001263,nsv1011902,nsv1005146 M 29084 0 7 CROCC dgv168n54 1 17097851 17131865 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545679,nsv545676 M 17421 0 2 CROCC nsv997723 1 17101281 17120973 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473113,nssv3479153,nssv3470882 M 29084 0 3 "" dgv56e59 1 17101452 17102950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3351872,esv3378698 M 185 2 0 "" NA12878,NA12891 dgv25n67 1 17102401 17133885 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821854,nsv821865,nsv821898 M 31 3 0 CROCC AK2,NA18537,NA18972 nsv545677 1 17102578 17115318 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710902 M 17421 0 1 "" esv3431776 1 17105152 17107250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692070 M 185 1 0 "" NA12891 esv3342657 1 17105683 17106433 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740943 M 185 1 0 "" NA19240 nsv545678 1 17105790 17120105 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710905,nssv710906,nssv710904,nssv710903 M 17421 0 4 "" esv3406906 1 17106152 17107850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692071 M 185 1 0 "" NA12878 nsv1006384 1 17108259 17126113 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467303 M 29084 0 1 CROCC dgv122n100 1 17108259 17134463 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000426,nsv998844,nsv1013867 M 29084 5 0 CROCC dgv123n100 1 17108259 17134822 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998767,nsv1002017,nsv1003831,nsv998672,nsv1009905,nsv1000314,nsv997518,nsv1009231,nsv998774,nsv1013736,nsv997816,nsv1005762,nsv1004895,nsv997427,nsv1013296,nsv1003807 M 29084 0 34 CROCC dgv124n100 1 17108259 17134822 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005306,nsv1008279,nsv1012684,nsv1013207,nsv1005265 M 29084 22 28 CROCC nsv508947 1 17108899 17210197 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619776,nssv623774 M 4 2 0 ATP13A2,CROCC,MFAP2 NA10860,NA18994 dgv169n54 1 17111281 17129889 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545680,nsv545683 M 17421 0 2 CROCC dgv170n54 1 17111281 17136952 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545685,nsv545682,nsv545681,nsv545684 M 17421 0 4 CROCC dgv125n100 1 17112042 17130518 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010177,nsv1008214,nsv1014417 M 29084 0 7 CROCC nsv1002599 1 17112042 17167787 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481639 M 29084 1 0 CROCC nsv1002613 1 17114941 17148816 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481654 M 29084 0 1 CROCC dgv126n100 1 17117788 17134822 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001234,nsv1003945,nsv1008243,nsv1000311,nsv1001522 M 29084 0 7 CROCC nsv1004224 1 17117788 17134822 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471310,nssv3477575,nssv3469116 M 29084 2 1 CROCC dgv171n54 1 17118222 17135964 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545689,nsv545686,nsv545688,nsv545687 M 17421 0 9 CROCC nsv482201 1 17121032 17172061 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558562 M 1 1 0 CROCC KB1 nsv437208 1 17121472 17140916 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467089 M 60 0 1 CROCC NA19240 nsv438355 1 17126415 17137953 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv469185,nssv469407,nssv469518,nssv469296 M 269 0 4 CROCC NA19207,NA19208,NA19238,NA19240 nsv471438 1 17127282 17153825 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv548300,nssv548289,nssv548311 M 3 3 0 CROCC JDW,NA18507,YH dgv127n100 1 17129892 17164469 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012323,nsv1000171 M 29084 0 2 CROCC dgv57e59 1 17143352 17144950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3347572,esv3375285,esv3452155 M 185 3 0 CROCC NA12878,NA12891,NA12892 esv3343101 1 17152552 17153350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692076 M 185 1 0 CROCC NA12891 esv3360661 1 17208470 17208492 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863677 M 185 1 0 ATP13A2 NA12005 nsv545690 1 17239458 17358240 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710923 M 17421 1 0 PADI2,SDHB esv2422314 1 17279980 17415709 CNV duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP array essv5161240 M 181 1 0 PADI1,PADI2 ND01703 nsv460662 1 17285088 17358138 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537201 M 1557 0 1 PADI2 HGDP00896 nsv545691 1 17285088 17358138 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173787 M 17421 0 1 PADI2 HGDP00896 nsv1009931 1 17299349 17360538 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468895 M 29084 1 0 PADI2 esv3305460 1 17313710 17313711 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7750186,essv7758201,essv7754097,essv7744629,essv7756324,essv7761430,essv7740897,essv7741691,essv7746912,essv7744319,essv7756230,essv7762283,essv7760271,essv7752737,essv7749234,essv7755485,essv7749714,essv7743175 M 185 18 0 PADI2 NA18486,NA18489,NA18498,NA18499,NA18502,NA18505,NA18522,NA18853,NA18856,NA18870,NA18912,NA18916,NA19093,NA19108,NA19116,NA19137,NA19138,NA19239 esv3310333 1 17313719 17313720 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7837611,essv7836931,essv7838900 M 185 3 0 PADI2 NA19238,NA19239,NA19240 esv2422211 1 17325509 17357086 CNV duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP array essv5161296 M 181 1 0 "" ND03833 nsv1004390 1 17341232 17427440 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700280 M 29084 1 0 PADI1 esv2762267 1 17358168 17386439 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7007744 M 1109 0 1 "" SW_1378 esv2627134 1 17364857 17365637 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5378317 M 1 1 0 "" NA18507 nsv512720 1 17365270 17366158 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625345 M 1 1 0 "" 1 esv1174577 1 17365301 17365301 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4070341 M 2 1 0 "" HuRef nsv834291 1 17403404 17549299 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443774,nssv1443763 M 95 2 0 PADI1,PADI3,PADI4 esv1489199 1 17407679 17407679 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3883314 M 2 1 0 PADI1 HuRef esv2762134 1 17422708 17425462 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005180 M 1109 0 1 PADI1 RW_0111 nsv470700 1 17424530 17467179 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547713 M 443 0 1 PADI1,PADI3 HGDP00298 nsv545692 1 17427440 17530121 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710924 M 17421 0 1 PADI1,PADI3,PADI4 nsv511680 1 17439160 17441668 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626318 M 1 0 1 PADI1 1 esv1009642 1 17440535 17440822 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578196 M 3 0 1 PADI1 HuRef esv1398963 1 17440584 17440872 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4132855 M 2 0 1 PADI1 HuRef nsv508958 1 17443929 17495719 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619777,nssv623775,nssv621083 M 4 3 0 PADI1,PADI3 NA10860,NA15510,NA18994 dgv128n100 1 17448915 17508587 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011098,nsv1005242 M 29084 3 0 PADI3,PADI4 nsv481528 1 17449841 17449841 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013550 M 9 0 0 PADI3 nsv521814 1 17459240 17464911 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694586 M 2026 0 1 PADI3 dgv129n100 1 17460749 17495484 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000599,nsv1014175,nsv1004800,nsv1000395,nsv997473,nsv1003069,nsv1007323,nsv1007766,nsv1000437,nsv1015132 M 29084 26 0 PADI3 nsv516116 1 17464911 17486396 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv669330,nssv654821,nssv668375,nssv666311,nssv691565 M 2026 5 0 PADI3 nsv1011954 1 17467471 17489684 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477036,nssv3470184,nssv3700287,nssv3482059 M 29084 4 0 PADI3 esv2762268 1 17467483 17489696 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7007855 M 1109 1 0 PADI3 SW_1213 nsv545693 1 17468398 17486396 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710925 M 17421 1 0 PADI3 nsv1011242 1 17468398 17501632 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472097 M 29084 1 0 PADI3 nsv1003937 1 17476192 17567288 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467117 M 29084 0 1 PADI3,PADI4 nsv4076 1 17482320 17493999 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv955 M 9 1 0 PADI3 NA19240 esv1667289 1 17488383 17488383 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3808815 M 2 1 0 "" HuRef esv997286 1 17488389 17492015 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565762 M 3 1 0 "" HuRef nsv481233 1 17525271 17525271 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019868 M 9 0 0 PADI4 nsv545694 1 17547408 17549430 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710926 M 17421 0 1 PADI4 nsv511142 1 17547408 17553864 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625376 M 1 0 1 PADI4 1 esv33950 1 17548102 17549701 CNV gain+loss de_Smith_et_al_2007 17666407 Oligo aCGH essv95154,essv96384,essv95937,essv95433,essv93123,essv96650,essv95861,essv101249,essv100231,essv101586,essv96134,essv96455,essv92812,essv100601,essv94943 M 51 12 3 PADI4 21603,21618,21721,21847,21863,21911,21944,22007,22011,22127,22231,22261,22286,22298,22371 esv21592 1 17548473 17551517 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15841,esv15492,esv16374 M 40 0 14 PADI4 NA06985,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA15510 esv4441 1 17548480 17550349 CNV loss Wang_et_al_2008 18987735 Sequencing essv26882 M 1 0 1 PADI4 YH nsv511681 1 17548587 17550285 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626319 M 1 0 1 PADI4 1 nsv545696 1 17548878 17549481 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710928 M 17421 1 0 PADI4 dgv172n54 1 17548878 17549556 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545702,nsv545695 M 17421 0 2 PADI4 nsv545697 1 17548878 17549783 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710993,nssv711044,nssv711082,nssv711110,nssv711026,nssv711081,nssv711046,nssv711073,nssv711057,nssv711083,nssv711096,nssv710988,nssv711084,nssv710973,nssv711089,nssv711095,nssv711088,nssv711134,nssv711085,nssv711090,nssv711087,nssv711086,nssv711094,nssv711092,nssv711093,nssv711091,nssv711109,nssv711031,nssv711101,nssv711098,nssv711097,nssv711100,nssv711099,nssv711103,nssv710986,nssv711108,nssv711102,nssv711023,nssv711105,nssv711107,nssv711104,nssv711106,nssv710999,nssv711041,nssv711133,nssv711010,nssv711034,nssv711112,nssv711113,nssv711111,nssv711114,nssv711025,nssv711115,nssv711118,nssv711119,nssv711120,nssv711117,nssv711116,nssv711125,nssv711024,nssv711121,nssv711122,nssv711124,nssv711123,nssv711131,nssv711126,nssv710990,nssv711127,nssv711129,nssv711132,nssv711130,nssv711128,nssv710975,nssv711050,nssv711193,nssv711140,nssv711137,nssv711135,nssv711136,nssv711139,nssv711138,nssv711157,nssv711141,nssv711144,nssv711147,nssv711142,nssv711192,nssv711143,nssv711145,nssv711146,nssv711156,nssv711148,nssv711151,nssv711155,nssv711152,nssv711149,nssv711150,nssv711153,nssv711154,nssv711163,nssv711027,nssv711036,nssv711177,nssv711158,nssv711162,nssv711159,nssv711161,nssv711160,nssv711164,nssv711168,nssv711165,nssv711167,nssv711166,nssv711169,nssv711170,nssv711176,nssv711171,nssv711174,nssv711172,nssv711175,nssv711173,nssv711183,nssv711179,nssv711018,nssv711178,nssv711004,nssv711190,nssv711182,nssv711180,nssv711191,nssv711181,nssv711185,nssv711184,nssv711189,nssv711187,nssv711188,nssv711186,nssv711002,nssv711030,nssv711011,nssv711195,nssv711070,nssv711194,nssv710998,nssv711072,nssv711201,nssv710981,nssv711196,nssv711198,nssv711197,nssv711200,nssv711219,nssv711199,nssv711202,nssv710995,nssv711203,nssv711204,nssv711211,nssv711207,nssv711206,nssv711217,nssv711205,nssv711218,nssv711208,nssv711210,nssv711209,nssv711216,nssv711212,nssv711214,nssv711213,nssv711215,nssv711051,nssv711224,nssv711001,nssv710991,nssv711220,nssv711221,nssv711222,nssv711223,nssv710974,nssv711003,nssv711045,nssv711048,nssv711028,nssv710985,nssv711000,nssv711017,nssv711071,nssv711016,nssv711068,nssv711029,nssv710997,nssv710984,nssv711012,nssv711066,nssv711013,nssv711035,nssv711058,nssv711015,nssv710983,nssv711014,nssv711033,nssv710994,nssv711047,nssv711080,nssv711074,nssv711075,nssv711009,nssv710982,nssv711008,nssv711020,nssv710936,nssv711019,nssv711053,nssv711062,nssv711069,nssv711007,nssv710996,nssv711056,nssv710935,nssv711043,nssv711064,nssv710934,nssv711037,nssv711006,nssv711042,nssv710931,nssv711040,nssv710930,nssv710929,nssv710933,nssv711005,nssv710932,nssv711039,nssv711079,nssv711067,nssv711052,nssv711021,nssv710937,nssv710940,nssv710938,nssv711032,nssv710972,nssv710954,nssv710971,nssv710979,nssv710939,nssv710941,nssv711061,nssv711054,nssv710948,nssv711065,nssv710953,nssv710943,nssv710944,nssv710942,nssv710977,nssv710980,nssv710978,nssv710947,nssv710946,nssv710945,nssv710949,nssv710976,nssv710950,nssv710952,nssv710951,nssv711076,nssv711077,nssv711078,nssv710987,nssv710992,nssv710989,nssv711063,nssv710970,nssv711060,nssv710956,nssv711059,nssv710957,nssv710955,nssv710960,nssv711055,nssv711049,nssv710959,nssv710969,nssv710958,nssv711038,nssv710962,nssv710968,nssv710961,nssv710966,nssv710965,nssv710964,nssv710963,nssv711022,nssv710967 M 17421 0 296 PADI4 dgv173n54 1 17548878 17555628 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545698,nsv545709 M 17421 0 2 PADI4 dgv26n67 1 17548925 17549903 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv821921,nsv821909 M 31 0 10 PADI4 AK10,AK18,AK2,AK6,NA18542,NA18547,NA18582,NA18592,NA18947,NA18951 dgv174n54 1 17548930 17549327 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545701,nsv545699,nsv545700 M 17421 0 4 PADI4 dgv175n54 1 17549084 17549783 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545705,nsv545707,nsv545703,nsv545708 M 17421 0 7 PADI4 dgv176n54 1 17549135 17549495 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545704,nsv545706 M 17421 0 2 PADI4 nsv473158 1 17573508 17573508 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016455 M 9 1 0 PADI6 NA19129 esv2590404 1 17577359 17578787 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5203286 M 1 0 1 PADI6 NA18507 esv2214804 1 17578009 17578656 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4985556 M 1 0 1 PADI6 NA18507 esv2626551 1 17578194 17578505 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5305827 M 1 0 1 PADI6 NA18507 nsv478562 1 17595372 17595372 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011985 M 9 1 0 PADI6 NA18507 nsv945802 1 17605774 17607631 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755962,nssv1755917,nssv1755890,nssv1755915,nssv1755910,nssv1754312,nssv1755892,nssv1755954,nssv1755900,nssv1755972,nssv1755896,nssv1755960,nssv1755897,nssv1755956,nssv1755898,nssv1755925,nssv1755907,nssv1755951,nssv1755903,nssv1755958,nssv1755877,nssv1755952,nssv1755878,nssv1755955,nssv1755970,nssv1755923,nssv1755879,nssv1755905,nssv1755966,nssv1755945,nssv1755969,nssv1755926,nssv1755894,nssv1755927,nssv1755893,nssv1755901,nssv1755899,nssv1755937,nssv1755883,nssv1755939,nssv1755889,nssv1755973,nssv1755895,nssv1755916,nssv1755885,nssv1755938,nssv1755884,nssv1754317,nssv1755908,nssv1755953,nssv1755886,nssv1755932,nssv1755882,nssv1755948,nssv1755964,nssv1755959,nssv1755967,nssv1754311,nssv1755961,nssv1755933,nssv1755963,nssv1754318,nssv1755887,nssv1755906,nssv1755971,nssv1755941,nssv1755881,nssv1755942,nssv1755965,nssv1755912,nssv1755888,nssv1755922,nssv1755914,nssv1755950,nssv1755930,nssv1755947,nssv1755928,nssv1755940,nssv1755919,nssv1755911,nssv1754315,nssv1755909,nssv1755929,nssv1755918,nssv1755936,nssv1755920,nssv1755944,nssv1755904,nssv1755943,nssv1755921,nssv1755931,nssv1755934,nssv1754316,nssv1755876,nssv1754313,nssv1754314,nssv1755949 M 97 10 0 RCC2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv821932 1 17637086 17639506 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426379 M 31 1 0 RCC2 AK6 nsv475340 1 17642385 17642385 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019257 M 9 1 0 "" NA19240 nsv1000724 1 17649408 17713578 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464679 M 29084 1 0 "" nsv945804 1 17688282 17701706 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754375,nssv1754332,nssv1754378,nssv1754343,nssv1754357,nssv1754350,nssv1754391,nssv1754339,nssv1754377,nssv1754402,nssv1754372,nssv1754330,nssv1754414,nssv1754334,nssv1754374,nssv1754320,nssv1754411,nssv1754406,nssv1754344,nssv1754325,nssv1754412,nssv1754399,nssv1754383,nssv1754321,nssv1754353,nssv1754337,nssv1754395,nssv1754327,nssv1754390,nssv1754404,nssv1754389,nssv1754340,nssv1754369,nssv1754336,nssv1754371,nssv1754326,nssv1754388,nssv1754347,nssv1754366,nssv1754397,nssv1754410,nssv1754324,nssv1754392,nssv1754398,nssv1754342,nssv1754335,nssv1754352,nssv1754331,nssv1754360,nssv1754322,nssv1754363,nssv1754333,nssv1754407,nssv1754338,nssv1754358,nssv1754328,nssv1754319,nssv1754405,nssv1754367,nssv1754400,nssv1754351,nssv1754329,nssv1754384,nssv1754348,nssv1754382,nssv1754341,nssv1754387,nssv1754323,nssv1754409,nssv1754403,nssv1754415,nssv1754401,nssv1754356,nssv1754359,nssv1754368,nssv1754349,nssv1754408,nssv1754370,nssv1754345,nssv1754365,nssv1754394,nssv1754346,nssv1754354,nssv1754355,nssv1754413,nssv1754396,nssv1754380,nssv1755032,nssv1754373,nssv1754364,nssv1754379,nssv1754385,nssv1754393,nssv1754381,nssv1754386,nssv1754361,nssv1754362 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4187 1 17702531 17736580 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2861 M 9 1 0 "" NA18555 nsv834302 1 17730518 17912534 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443785,nssv1443796 M 95 0 2 ARHGEF10L esv997027 1 17734365 17749665 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564910 M 3 0 0 ARHGEF10L HuRef nsv818089 1 17760550 17775885 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417309 M 112 0 1 ARHGEF10L NA18608 nsv470701 1 17760550 17791187 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547714 M 443 0 1 ARHGEF10L HGDP00825 esv988531 1 17761998 17772536 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563476 M 3 0 1 ARHGEF10L HuRef nsv460673 1 17765403 17791187 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537212 M 1557 0 1 ARHGEF10L HGDP00553 nsv545710 1 17765403 17791187 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173788 M 17421 0 1 ARHGEF10L HGDP00553 nsv4298 1 17814253 17835256 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8255 M 9 0 1 ARHGEF10L NA12156 esv2764267 1 17871068 17876533 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005182,essv7005181 M 1109 0 2 ARHGEF10L RW_0079,RW_0090 nsv518693 1 17871364 17873214 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696144 M 2026 0 1 ARHGEF10L nsv512721 1 17887887 17888572 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625346 M 1 1 0 ARHGEF10L 1 esv3351922 1 17888526 17888721 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652056 M 185 1 0 ARHGEF10L NA19240 nsv508248 1 17936992 18012892 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622757 M 4 0 1 ACTL8 NA18994 nsv518590 1 17946092 17947289 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696036 M 2026 0 1 "" nsv161140 1 18096718 18096718 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179718 M 24 "" esv275339 1 18103122 18109206 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585726 M 1250 0 1 "" esv3343287 1 18143682 18143693 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898715,essv8898716,essv8898713,essv8898724,essv8898718,essv8898720,essv8898721,essv8898717,essv8898726,essv8898719,essv8898723,essv8898722 M 185 12 0 "" NA18499,NA18504,NA18508,NA18510,NA18517,NA18870,NA18871,NA18909,NA19093,NA19099,NA19116,NA19129 esv3305133 1 18143683 18143684 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7741380,essv7761490,essv7756261,essv7759049,essv7749767,essv7744162,essv7758530,essv7740581,essv7758822,essv7740953,essv7753431,essv7760422 M 185 12 0 "" NA18499,NA18504,NA18508,NA18510,NA18517,NA18870,NA18871,NA18909,NA19093,NA19099,NA19116,NA19129 nsv834313 1 18154502 18361688 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443829,nssv1443818,nssv1443807 M 95 0 3 IGSF21 nsv508969 1 18185254 18251218 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619778,nssv623776 M 4 2 0 "" NA10860,NA18994 esv3305695 1 18204033 18204034 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7744658,essv7741374 M 185 2 0 "" NA18871,NA19190 esv3431824 1 18204054 18204114 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898728,essv8898727 M 185 2 0 "" NA18871,NA19190 nsv478978 1 18213061 18213061 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012826 M 9 0 0 "" nsv1014415 1 18219297 18246326 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700295 M 29084 0 1 "" nsv521926 1 18221371 18284968 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694696 M 2026 0 1 "" nsv526833 1 18247527 18250377 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703190 M 2026 0 1 "" nsv475223 1 18288015 18288015 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015205 M 9 1 0 "" NA19240 dgv177n54 1 18292731 18316579 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545711,nsv545712 M 17421 0 2 IGSF21 nsv834324 1 18373494 18553921 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443840 M 95 1 0 IGSF21 nsv4409 1 18379584 18412953 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8323 M 9 1 0 IGSF21 NA12156 nsv460684 1 18416371 18430332 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537223 M 1557 0 1 IGSF21 HGDP00554 nsv545713 1 18416371 18430332 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173789 M 17421 0 1 IGSF21 HGDP00554 nsv4520 1 18434506 18469664 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3912 M 9 1 0 IGSF21 NA12878 nsv478816 1 18440824 18440824 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012525 M 9 1 0 IGSF21 NA18507 nsv545714 1 18449300 18504955 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711243 M 17421 0 1 IGSF21 dgv130n100 1 18449697 18474485 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011251,nsv1011048 M 29084 0 8 IGSF21 nsv528445 1 18451625 18473411 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705040 M 2026 0 1 IGSF21 nsv834336 1 18499440 18685787 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443852 M 95 0 1 IGSF21,KLHDC7A nsv4631 1 18502088 18534847 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6396 M 9 1 0 IGSF21 NA12156 esv994039 1 18529669 18529764 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570521 M 3 0 1 IGSF21 HuRef nsv545715 1 18545361 18602892 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711244 M 17421 0 1 IGSF21 nsv475630 1 18569676 18569676 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016293 M 9 1 0 IGSF21 NA12878 nsv4743 1 18575182 18620397 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8453 M 9 0 1 IGSF21 NA12156 nsv545716 1 18631964 18647370 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711245 M 17421 0 1 "" esv3302487 1 18665120 18665198 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7731444,essv7731195 M 185 0 0 "" NA12878,NA12891 esv995072 1 18665125 18665125 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3567950 M 3 1 0 "" HuRef nsv160887 1 18665127 18665127 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179465 M 24 "" esv3345928 1 18665134 18665210 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8670855,essv8670854 M 185 2 0 "" NA12878,NA12891 esv1135568 1 18665188 18665188 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4108538 M 2 1 0 "" HuRef nsv159998 1 18665196 18665196 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178576 M 24 "" nsv545717 1 18671872 18691288 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711246 M 17421 0 1 KLHDC7A esv275146 1 18672834 18679704 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585623 M 1250 0 1 "" nsv518311 1 18685613 18686032 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695742 M 2026 0 1 "" nsv1006958 1 18688858 18945513 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3474041 M 29084 1 0 PAX7 nsv4854 1 18745518 18791168 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6404 M 9 0 1 "" NA12156 nsv460706 1 18766179 18781452 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537241 M 1557 0 1 "" HGDP01278 nsv545718 1 18766179 18781452 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173790 M 17421 0 1 "" HGDP01278 esv1600907 1 18797221 18797291 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4315808 M 2 0 1 "" HuRef nsv4965 1 18804399 18837973 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5358 M 9 1 0 PAX7 NA19129 nsv1008797 1 18828484 18876820 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482266 M 29084 1 0 PAX7 esv3417922 1 18852270 18852278 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863678 M 185 1 0 PAX7 NA12005 nsv5076 1 18858189 18902861 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8574 M 9 0 1 PAX7 NA12156 nsv506920 1 18868065 18874065 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619225 M 4 0 0 PAX7 NA10860 esv2599950 1 18925076 18925227 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5276923 M 1 0 1 PAX7 NA18507 esv1070523 1 18943551 18943551 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4207695 M 2 1 0 PAX7 HuRef nsv5187 1 18954665 18999571 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8645 M 9 0 1 "" NA12156 nsv475087 1 18973298 18973298 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015109 M 9 1 0 "" NA18956 esv2589469 1 19023733 19025210 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5385528 M 1 0 1 "" NA18507 esv3876 1 19024338 19024992 CNV loss Wang_et_al_2008 18987735 Sequencing essv26317 M 1 0 1 "" YH dgv59e59 1 19056352 19058050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3348156,esv3451670,esv3403682 M 185 3 0 TAS1R2 NA19238,NA19239,NA19240 nsv472669 1 19067789 19067789 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012363 M 9 1 0 "" NA18555 nsv545719 1 19072767 19080780 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711247 M 17421 0 1 ALDH4A1 nsv479029 1 19096592 19096592 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011616 M 9 0 0 ALDH4A1 nsv834347 1 19115358 19341509 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443863 M 95 1 0 IFFO2,UBR4 nsv512722 1 19125008 19125494 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625347 M 1 1 0 IFFO2 1 esv26882 1 19198813 19201050 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16565 M 40 0 1 "" NA18858 esv21929 1 19228238 19232463 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16928 M 40 0 1 "" NA19257 nsv5298 1 19237962 19275195 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5363,nssv2867,nssv3923 M 9 3 0 UBR4 NA12878,NA18555,NA19129 nsv508980 1 19241429 19296838 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621084 M 4 1 0 UBR4 NA15510 nsv545720 1 19248615 19259657 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711248 M 17421 0 1 "" nsv545721 1 19255278 19259821 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711251,nssv711250,nssv711249 M 17421 1 2 "" nsv545722 1 19255278 19259929 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711252 M 17421 1 0 "" nsv545723 1 19255278 19267311 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711253 M 17421 1 0 "" nsv545724 1 19258945 19259821 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711261,nssv711255,nssv711254,nssv711257,nssv711256,nssv711260,nssv711259,nssv711258 M 17421 1 7 "" esv1963532 1 19259049 19259392 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4528609 M 1 0 1 "" NA18507 esv29322 1 19259249 19259959 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11291 M 40 0 2 "" NA12006,NA19225 nsv545725 1 19259278 19259873 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711262,nssv711268,nssv711265,nssv711263,nssv711264,nssv711267,nssv711266 M 17421 0 7 "" dgv178n54 1 19259278 19259929 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545728,nsv545726 M 17421 14 0 "" nsv545727 1 19259278 19265620 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711282 M 17421 0 1 "" nsv512723 1 19260386 19260504 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625348 M 1 1 0 "" 1 nsv477004 1 19342298 19342298 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015931 M 9 1 0 UBR4 NA12878 nsv947415 1 19349760 19352466 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761244 M 97 1 0 UBR4 HGDP00665 nsv470702 1 19415518 19452556 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547715 M 443 1 0 EMC1,MRTO4 HGDP01179 nsv471971 1 19422781 19422781 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018521 M 9 1 0 EMC1 NA18555 nsv945806 1 19466334 19471350 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755064,nssv1755074,nssv1755046,nssv1755114,nssv1755070,nssv1755079,nssv1755050,nssv1755068,nssv1755054,nssv1755119,nssv1755066,nssv1755135,nssv1755043,nssv1755095,nssv1755125,nssv1755069,nssv1755044,nssv1755086,nssv1755121,nssv1755117,nssv1755045,nssv1755096,nssv1755073,nssv1755103,nssv1755120,nssv1755072,nssv1755124,nssv1755111,nssv1755062,nssv1755078,nssv1755126,nssv1755100,nssv1755127,nssv1755089,nssv1755063,nssv1755112,nssv1755122,nssv1755075,nssv1755048,nssv1755133,nssv1755059,nssv1755084,nssv1755129,nssv1755082,nssv1755049,nssv1755138,nssv1755128,nssv1755076,nssv1755061,nssv1755094,nssv1755123,nssv1755106,nssv1755057,nssv1755087,nssv1755047,nssv1755085,nssv1755052,nssv1755131,nssv1755056,nssv1755139,nssv1755053,nssv1755088,nssv1755060,nssv1755101,nssv1755058,nssv1755110,nssv1755071,nssv1755108,nssv1755055,nssv1755099,nssv1755051,nssv1755042,nssv1755077,nssv1755080,nssv1755091,nssv1755107,nssv1755136,nssv1755105,nssv1755083,nssv1755097,nssv1755067,nssv1755081,nssv1755116,nssv1755115,nssv1755137,nssv1755132,nssv1755118,nssv1755090,nssv1755130,nssv1755098,nssv1755134,nssv1755113,nssv1755102,nssv1755065,nssv1755109,nssv1755092,nssv1755104 M 97 10 0 AKR7L HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv26443 1 19472219 19487114 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11560 M 40 0 2 AKR7A3,AKR7L NA18523,NA18858 nsv473677 1 19475606 19475606 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010781 M 9 1 0 "" NA19129 nsv472824 1 19480677 19480677 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019594 M 9 1 0 "" NA18555 nsv945807 1 19481855 19485872 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755162,nssv1755214,nssv1755152,nssv1755200,nssv1755142,nssv1755213,nssv1755156,nssv1755163,nssv1755147,nssv1755207,nssv1755169,nssv1755196,nssv1755148,nssv1755233,nssv1755144,nssv1755211,nssv1755141,nssv1755172,nssv1755223,nssv1755187,nssv1755155,nssv1755179,nssv1755146,nssv1755188,nssv1755225,nssv1755215,nssv1755149,nssv1755192,nssv1755219,nssv1755202,nssv1755160,nssv1755217,nssv1755220,nssv1755190,nssv1755161,nssv1755209,nssv1755157,nssv1755140,nssv1755164,nssv1755176,nssv1755227,nssv1755184,nssv1755224,nssv1755182,nssv1755153,nssv1755201,nssv1755171,nssv1755166,nssv1755159,nssv1755208,nssv1755222,nssv1755212,nssv1755168,nssv1755167,nssv1755226,nssv1755231,nssv1755221,nssv1755193,nssv1755218,nssv1755216,nssv1755154,nssv1755177,nssv1755145,nssv1755204,nssv1755151,nssv1755174,nssv1755143,nssv1755170,nssv1755150,nssv1755197,nssv1755158,nssv1755205,nssv1755228,nssv1755198,nssv1755180,nssv1755199,nssv1755195,nssv1755229,nssv1755237,nssv1755186,nssv1755206,nssv1755232,nssv1755191,nssv1755210,nssv1755185,nssv1755236,nssv1755230,nssv1755203,nssv1755183,nssv1755175,nssv1755234,nssv1755178,nssv1755181,nssv1755189,nssv1755235,nssv1755165,nssv1755173 M 97 10 0 AKR7A3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945808 1 19505070 19508462 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755260,nssv1755334,nssv1755251,nssv1755273,nssv1755262,nssv1755286,nssv1755242,nssv1755315,nssv1755239,nssv1755302,nssv1755322,nssv1755277,nssv1755254,nssv1755312,nssv1755255,nssv1755299,nssv1755317,nssv1755287,nssv1755266,nssv1755329,nssv1755324,nssv1755304,nssv1755247,nssv1755261,nssv1755258,nssv1755306,nssv1755259,nssv1755331,nssv1755319,nssv1755263,nssv1755245,nssv1755271,nssv1755326,nssv1755311,nssv1755244,nssv1755279,nssv1755318,nssv1755292,nssv1755257,nssv1755332,nssv1755323,nssv1755313,nssv1755249,nssv1755310,nssv1755250,nssv1755305,nssv1755321,nssv1755282,nssv1755243,nssv1755316,nssv1755248,nssv1755265,nssv1755320,nssv1755330,nssv1755240,nssv1755270,nssv1755267,nssv1755308,nssv1755269,nssv1755291,nssv1755253,nssv1755314,nssv1755246,nssv1755327,nssv1755256,nssv1755288,nssv1755252,nssv1755238,nssv1755325,nssv1755335,nssv1755241,nssv1755293,nssv1755298,nssv1755274,nssv1755280,nssv1755301,nssv1755290,nssv1755275,nssv1755307,nssv1755309,nssv1755294,nssv1755276,nssv1755336,nssv1755333,nssv1755284,nssv1755303,nssv1755300,nssv1755297,nssv1755278,nssv1755264,nssv1755268,nssv1755289,nssv1755272,nssv1755285,nssv1755283,nssv1755281,nssv1755328 M 97 10 0 AKR7A2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2547343 1 19519310 19521534 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5328741 M 1 0 1 PQLC2 NA18507 nsv834358 1 19600452 19778614 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443874 M 95 0 1 CAPZB nsv5409 1 19603885 19608461 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1934 M 9 1 0 CAPZB NA18555 nsv1014816 1 19626434 19648398 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478468 M 29084 0 1 CAPZB esv2398290 1 19633847 19634376 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4666927 M 1 0 1 CAPZB NA18507 esv3747 1 19633947 19634251 CNV loss Wang_et_al_2008 18987735 Sequencing essv26188 M 1 0 1 CAPZB YH esv6224 1 19633962 19634251 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28665 M 1 0 0 CAPZB nsv471771 1 19633977 19634198 CNV loss Hinds_et_al_2006 16327809 Oligo aCGH,PCR nssv646052 M 95 CAPZB esv3386001 1 19687305 19687314 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863679 M 185 1 0 "" NA12005 nsv470703 1 19722243 19776798 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547716 M 443 1 0 "" HGDP01049 nsv1011246 1 19733284 19808223 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700300 M 29084 1 0 MINOS1,MINOS1-NBL1,RPS14P3 nsv508991 1 19766655 19904991 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621085 M 4 1 0 HTR6,MINOS1,MINOS1-NBL1,NBL1,RPS14P3,TMCO4 NA15510 esv3309260 1 19770867 19770868 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7838020,essv7837805,essv7838466 M 185 3 0 "" NA12878,NA12891,NA12892 esv3335212 1 19770868 19770881 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8673879,essv8673878 M 185 2 0 "" NA19238,NA19240 esv1007512 1 19802816 19819397 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565353 M 3 0 0 MINOS1,MINOS1-NBL1,RPS14P3 HuRef nsv945809 1 19806603 19807550 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755359,nssv1755428,nssv1755343,nssv1755410,nssv1755346,nssv1755388,nssv1755347,nssv1755380,nssv1755353,nssv1755384,nssv1755420,nssv1755370,nssv1755423,nssv1755371,nssv1755338,nssv1755367,nssv1755350,nssv1755396,nssv1755355,nssv1755403,nssv1755422,nssv1755363,nssv1755366,nssv1755404,nssv1755354,nssv1755375,nssv1755417,nssv1755399,nssv1755357,nssv1755434,nssv1755415,nssv1755360,nssv1755361,nssv1755377,nssv1755344,nssv1755413,nssv1755424,nssv1755425,nssv1755340,nssv1755386,nssv1755421,nssv1755402,nssv1755339,nssv1755400,nssv1755356,nssv1755376,nssv1755341,nssv1755432,nssv1755342,nssv1755391,nssv1755418,nssv1755430,nssv1755345,nssv1755362,nssv1755348,nssv1755429,nssv1755351,nssv1755401,nssv1755416,nssv1755426,nssv1755358,nssv1755337,nssv1755349,nssv1755385,nssv1755419,nssv1755411,nssv1755365,nssv1755394,nssv1755352,nssv1755427,nssv1755368,nssv1755390,nssv1755409,nssv1755405,nssv1755389,nssv1755381,nssv1755369,nssv1755378,nssv1755395,nssv1755387,nssv1755431,nssv1755408,nssv1755392,nssv1755433,nssv1755406,nssv1755372,nssv1755412,nssv1755374,nssv1755364,nssv1755382,nssv1755379,nssv1755393,nssv1755407,nssv1755373,nssv1755414,nssv1755398,nssv1755383 M 97 10 0 MINOS1,MINOS1-NBL1,RPS14P3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv159533 1 19827465 19827530 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178111 M 24 MINOS1,MINOS1-NBL1 esv2395760 1 19841881 19842314 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4876743 M 1 0 1 MINOS1-NBL1,NBL1 NA18507 esv7640 1 19841934 19842086 CNV gain Ahn_et_al_2009 19470904 Sequencing essv30081 M 1 0 0 MINOS1-NBL1 nsv474503 1 19852422 19852422 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013748 M 9 1 0 MINOS1-NBL1,NBL1 NA18956 nsv545729 1 19856514 19865100 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711284 M 17421 0 1 HTR6,MINOS1-NBL1,NBL1 esv22015 1 19963063 19964549 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11329 M 40 0 1 TMCO4 NA18861 nsv1003518 1 19968875 20089447 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700850 M 29084 0 1 OTUD3,RNF186,TMCO4 esv3450715 1 19969010 19969244 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8699413 M 185 1 0 TMCO4 NA12878 nsv460717 1 20109318 20123386 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537249 M 1557 0 1 OTUD3,PLA2G2E NINDS_168 nsv545730 1 20109318 20123386 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173791 M 17421 0 1 OTUD3,PLA2G2E NINDS_168 esv3355181 1 20129670 20129688 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898733,essv8898732,essv8898730,essv8898738,essv8898735,essv8898731,essv8898737,essv8898741,essv8898734,essv8898740,essv8898739,essv8898729 M 185 12 0 "" NA06986,NA07357,NA11830,NA11881,NA12154,NA12249,NA12717,NA18571,NA18593,NA18603,NA18609,NA18948 esv2564092 1 20131192 20132300 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5284149 M 1 1 0 "" NA18507 nsv527818 1 20178474 20252732 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv704313 M 2026 1 0 PLA2G2A nsv545731 1 20188186 20975386 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711285 M 17421 1 0 CAMK2N1,CDA,DDOST,FAM43B,HP1BP3,KIF17,LINC01141,MIR6084,MUL1,PINK1,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,SH2D5,UBXN10,VWA5B1 nsv1003802 1 20257015 20353427 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700851 M 29084 0 1 PLA2G2D,PLA2G2F,PLA2G5 nsv5520 1 20270133 20315058 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5380 M 9 0 1 PLA2G2D,PLA2G5 NA19129 esv2435763 1 20278935 20283694 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5290042 M 1 0 1 PLA2G5 NA18507 esv2164449 1 20279549 20283386 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4803624 M 1 0 1 PLA2G5 NA18507 esv25446 1 20279685 20283259 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv21099 M 40 0 3 PLA2G5 NA18517,NA19129,NA19190 nsv519515 1 20280768 20281961 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv656533,nssv674889,nssv693891,nssv689562 M 2026 0 4 PLA2G5 esv1003821 1 20303656 20315565 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564297 M 3 0 1 PLA2G2D HuRef nsv945810 1 20351722 20360956 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755446,nssv1755677,nssv1763198,nssv1755704,nssv1755438,nssv1755705,nssv1755450,nssv1755713,nssv1755662,nssv1755672,nssv1755668,nssv1755702,nssv1755664,nssv1755689,nssv1763200,nssv1755680,nssv1763202,nssv1755688,nssv1755436,nssv1763208,nssv1755443,nssv1755665,nssv1755656,nssv1755682,nssv1763203,nssv1755673,nssv1755439,nssv1755701,nssv1755437,nssv1755667,nssv1755448,nssv1755698,nssv1755661,nssv1755711,nssv1755719,nssv1755685,nssv1755657,nssv1755690,nssv1755669,nssv1755708,nssv1755660,nssv1763211,nssv1755442,nssv1763207,nssv1755659,nssv1755686,nssv1763199,nssv1755707,nssv1755447,nssv1755679,nssv1755444,nssv1755675,nssv1755440,nssv1763212,nssv1755717,nssv1755714,nssv1755720,nssv1755695,nssv1755445,nssv1763210,nssv1763201,nssv1755693,nssv1755718,nssv1763205,nssv1755449,nssv1755697,nssv1755658,nssv1755706,nssv1755441,nssv1755670,nssv1755671,nssv1755699,nssv1755692,nssv1755710,nssv1755676,nssv1763206,nssv1755703,nssv1755663,nssv1755715,nssv1755716,nssv1755712,nssv1755700,nssv1755666,nssv1755691,nssv1755696,nssv1763209,nssv1755709,nssv1755684,nssv1755681,nssv1763213,nssv1763204,nssv1755674,nssv1755678,nssv1755683,nssv1755694,nssv1755687,nssv1755435 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2606339 1 20369396 20370758 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5295790 M 1 0 1 PLA2G2C NA18507 esv2380061 1 20369588 20370508 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4621106 M 1 0 1 PLA2G2C NA18507 esv26523 1 20369816 20370376 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11635 M 40 0 1 PLA2G2C NA18858 esv26309 1 20371591 20373385 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10552 M 40 0 1 PLA2G2C NA18505 esv1000843 1 20414216 20418043 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565754 M 3 0 1 "" HuRef nsv1000821 1 20428616 20476601 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700853,nssv3700852 M 29084 0 2 "" dgv179n54 1 20428616 20478907 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545732,nsv545733 M 17421 0 2 "" nsv998806 1 20464927 20496599 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479431 M 29084 0 1 VWA5B1 nsv818100 1 20473599 20477546 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417739 M 112 0 1 "" NA19003 esv24128 1 20487218 20488654 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv16821 M 40 1 0 "" NA11993 esv2762277 1 20503421 20508286 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7007966 M 1109 0 1 VWA5B1 SW_0820 nsv5631 1 20537419 20580213 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5386,nssv3933 M 9 2 0 LINC01141,VWA5B1 NA12878,NA19129 esv2513498 1 20581164 20582087 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5214092 M 1 1 0 LINC01141 NA18507 esv3347293 1 20581252 20581950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692107 M 185 1 0 LINC01141 NA19240 esv3366225 1 20652752 20654450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692109 M 185 1 0 "" NA19238 dgv62e59 1 20652852 20654050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3325828,esv3444591 M 185 2 0 "" NA19239,NA19240 esv2560487 1 20662449 20662898 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5314979 M 1 1 0 "" NA18507 nsv512724 1 20662569 20662675 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625349 M 1 1 0 "" 1 nsv821943 1 20678598 20691234 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426380 M 31 1 0 CAMK2N1 AK6 esv3385515 1 20697513 20697513 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8638738 M 185 0 0 "" nsv945811 1 20725077 20726549 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763238,nssv1763287,nssv1763234,nssv1763273,nssv1763218,nssv1763214,nssv1763227,nssv1763276,nssv1763231,nssv1763253,nssv1763223,nssv1763307,nssv1763294,nssv1763261,nssv1763219,nssv1763248,nssv1763222,nssv1763301,nssv1763296,nssv1763288,nssv1763297,nssv1763254,nssv1763235,nssv1763268,nssv1763217,nssv1763281,nssv1763300,nssv1763250,nssv1763299,nssv1763259,nssv1763229,nssv1763251,nssv1763295,nssv1763289,nssv1763292,nssv1763252,nssv1763233,nssv1763246,nssv1763216,nssv1763240,nssv1763242,nssv1763308,nssv1763293,nssv1763255,nssv1763245,nssv1763275,nssv1763232,nssv1763284,nssv1763230,nssv1763304,nssv1763291,nssv1763265,nssv1763221,nssv1763237,nssv1763220,nssv1763279,nssv1763226,nssv1763244,nssv1763236,nssv1763239,nssv1763225,nssv1763274,nssv1763224,nssv1763262,nssv1763298,nssv1763249,nssv1763215,nssv1763277,nssv1763243,nssv1763290,nssv1763228,nssv1763241,nssv1763278,nssv1763272,nssv1763270,nssv1763267,nssv1763269,nssv1763256,nssv1763263,nssv1763257,nssv1763285,nssv1763305,nssv1763283,nssv1763309,nssv1763286,nssv1763310,nssv1763271,nssv1763264,nssv1763266,nssv1763260,nssv1763306,nssv1763280,nssv1763303,nssv1763247,nssv1763282,nssv1763302,nssv1763258 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv478723 1 20749734 20749734 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010858 M 9 1 0 "" NA18507 nsv460729 1 20766552 20791499 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537251 M 1557 1 0 CDA HGDP00552 nsv545734 1 20766552 20791499 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173792 M 17421 1 0 CDA HGDP00552 esv2750602 1 20786879 20787704 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv95034 M 51 0 1 "" 22231 nsv528156 1 20788288 20807383 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704704 M 2026 0 1 CDA esv998962 1 20797976 20803754 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565384 M 3 0 1 CDA HuRef nsv511682 1 20804213 20805394 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626320 M 1 0 1 CDA 1 esv24339 1 20805104 20806231 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19697 M 40 0 1 CDA NA18517 nsv834369 1 20808850 20978917 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443885,nssv1443896 M 95 0 2 CDA,DDOST,HP1BP3,KIF17,MIR6084,PINK1,SH2D5 esv3371341 1 20817315 20817334 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593713,essv9593724,essv9593746,essv9593735 M 185 4 0 CDA NA11881,NA12287,NA12814,NA12815 esv3305877 1 20817324 20817325 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7768893,essv7765711,essv7767205,essv7766435,essv7769259,essv7766905 M 185 6 0 CDA NA11881,NA11931,NA12045,NA12287,NA12814,NA12815 esv3359351 1 20822464 20823919 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652061 M 185 1 0 "" NA19240 esv2633764 1 20822484 20822872 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5230908 M 1 1 0 "" NA18507 esv2499678 1 20824410 20826003 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5192304 M 1 0 1 "" NA18507 esv3920 1 20824849 20825365 CNV loss Wang_et_al_2008 18987735 Sequencing essv26361 M 1 0 1 "" YH esv1075995 1 20825075 20825255 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3629701 M 2 0 1 "" HuRef nsv1003348 1 20848050 20914142 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469110 M 29084 1 0 DDOST,KIF17,PINK1 nsv522796 1 20867539 20875313 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698440 M 2026 0 1 KIF17 nsv520013 1 20883769 20927313 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697177 M 2026 0 1 KIF17,SH2D5 nsv5742 1 20957474 20992598 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3942 M 9 1 0 HP1BP3 NA12878 esv1356855 1 21015136 21015578 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3611504 M 2 0 1 EIF4G3 HuRef nsv474786 1 21056243 21056243 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019071 M 9 1 0 EIF4G3 NA19240 nsv1012238 1 21171950 21239344 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700854 M 29084 0 1 EIF4G3 nsv1009855 1 21186431 21266804 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700855 M 29084 0 1 EIF4G3 esv3387129 1 21199675 21199683 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863680 M 185 1 0 EIF4G3 NA12005 nsv834380 1 21271857 21447028 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443907 M 95 1 0 ECE1,EIF4G3 nsv160811 1 21300656 21303960 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179389 M 24 EIF4G3 esv1007787 1 21357379 21359034 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565532 M 3 1 0 EIF4G3 HuRef esv1000397 1 21393754 21412491 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565165 M 3 0 0 "" HuRef esv1387368 1 21409684 21410106 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3804670 M 2 0 1 "" HuRef nsv545735 1 21414322 21420655 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711288 M 17421 0 1 ECE1 esv1006358 1 21446403 21458931 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564803 M 3 0 1 ECE1 HuRef esv2109865 1 21499905 21500323 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4765838 M 1 0 1 ECE1 NA18507 nsv515620 1 21529749 21529826 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv664134,nssv656270 M 2026 0 2 ECE1 esv23912 1 21531415 21532035 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14361 M 40 0 1 ECE1 NA19225 nsv1007102 1 21564472 21608914 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3474977 M 29084 0 1 "" esv34155 1 21566164 22039203 CNV loss Gusev_et_al_2009 18971310 SNP array essv6990706 M 270 0 0 ALPL,HSPG2,LDLRAD2,NBPF3,RAP1GAP,USP48 esv26055 1 21570077 21687749 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14172,esv14152,esv11019 M 40 8 0 NBPF3 NA15510,NA18502,NA18511,NA18523,NA18907,NA18909,NA18916,NA19225 nsv1012251 1 21584318 21651083 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700856 M 29084 1 0 NBPF3 nsv945812 1 21598281 21630669 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763325,nssv1763406,nssv1763315,nssv1763372,nssv1763332,nssv1763334,nssv1763339,nssv1763336,nssv1763323,nssv1763349,nssv1763328,nssv1763361,nssv1763316,nssv1763404,nssv1763393,nssv1763347,nssv1763392,nssv1763382,nssv1763319,nssv1763367,nssv1763324,nssv1763357,nssv1763326,nssv1763403,nssv1763322,nssv1763341,nssv1763330,nssv1763383,nssv1763391,nssv1763407,nssv1763321,nssv1763380,nssv1763327,nssv1763363,nssv1763397,nssv1763350,nssv1763389,nssv1763399,nssv1763340,nssv1763378,nssv1763396,nssv1763370,nssv1763335,nssv1763402,nssv1763331,nssv1763344,nssv1763320,nssv1763387,nssv1763394,nssv1763343,nssv1763313,nssv1763356,nssv1763388,nssv1763385,nssv1763333,nssv1763362,nssv1763329,nssv1763351,nssv1763342,nssv1763365,nssv1763395,nssv1763311,nssv1763318,nssv1763348,nssv1763317,nssv1763358,nssv1763390,nssv1763355,nssv1763312,nssv1763338,nssv1763314,nssv1763398,nssv1763345,nssv1763377,nssv1763368,nssv1763386,nssv1763373,nssv1763379,nssv1763352,nssv1763376,nssv1763337,nssv1763384,nssv1763369,nssv1763375,nssv1763381,nssv1763371,nssv1763366,nssv1763400,nssv1763405,nssv1763374,nssv1763354,nssv1763359,nssv1763346,nssv1763364,nssv1763401,nssv1763353,nssv1763360 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv820559 1 21608059 21687749 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420269 M 1 1 0 NBPF3 NA10851 esv2758926 1 21608771 21815001 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757726 M 270 1 1 ALPL,NBPF3,RAP1GAP NA19154,NA19173 nsv428432 1 21608771 21815001 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv454587,nssv454598,nssv454620,nssv454609,nssv454554,nssv454576,nssv454565 M 62 7 0 ALPL,NBPF3,RAP1GAP HGDP00460,HGDP00463,HGDP00472,HGDP01093,HGDP01094,NA18916,NA19096 nsv9435 1 21610330 21672782 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv15120,nssv14412,nssv16109 M 31 2 1 NBPF3 NA18502,NA19173,NA19221 esv3402744 1 21621752 21626450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692122 M 185 1 0 "" NA19238 nsv945574 1 21623966 21630669 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570580,nssv2570604,nssv2570572,nssv2570602,nssv2570579,nssv2570615,nssv2570588,nssv2570630,nssv2570573,nssv2570600,nssv2570641,nssv2570619,nssv2570598,nssv2570628,nssv2570645,nssv2570595,nssv2570646,nssv2570627,nssv2570592,nssv2570638,nssv2571165,nssv2570626,nssv2570571,nssv2570605,nssv2570578,nssv2571158,nssv2571166,nssv2571162,nssv2570574,nssv2570624,nssv2570649,nssv2570625,nssv2570647,nssv2570639,nssv2570601,nssv2570611,nssv2570590,nssv2570637,nssv2570576,nssv2570612,nssv2570585,nssv2570609,nssv2570589,nssv2570596,nssv2570586,nssv2570616,nssv2570587,nssv2570569,nssv2570584,nssv2570597,nssv2570648,nssv2570606,nssv2570599,nssv2570568,nssv2570594,nssv2570603,nssv2570577,nssv2570613,nssv2570591,nssv2570620,nssv2570644,nssv2570593,nssv2570582,nssv2570635,nssv2570583,nssv2570607,nssv2570642,nssv2570633,nssv2570575,nssv2570634,nssv2570640,nssv2571164,nssv2571161,nssv2570631,nssv2570643,nssv2570570,nssv2570581,nssv2570629,nssv2570608,nssv2570623,nssv2570632,nssv2571163,nssv2571167,nssv2571159,nssv2570617,nssv2570622,nssv2570621,nssv2570610,nssv2570650,nssv2570618,nssv2570614,nssv2570636 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv7069 1 21626890 21679151 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv29510 M 1 0 0 NBPF3 nsv945813 1 21639954 21685166 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763411,nssv1763441,nssv1763485,nssv1763450,nssv1763420,nssv1764111,nssv1763428,nssv1763478,nssv1763410,nssv1763474,nssv1763425,nssv1763457,nssv1763413,nssv1763444,nssv1763432,nssv1763452,nssv1763437,nssv1763479,nssv1763421,nssv1763435,nssv1763490,nssv1763456,nssv1763423,nssv1763464,nssv1763418,nssv1763454,nssv1763427,nssv1763476,nssv1763412,nssv1763465,nssv1764110,nssv1763433,nssv1763422,nssv1763431,nssv1763491,nssv1763458,nssv1763429,nssv1763438,nssv1763419,nssv1764113,nssv1763424,nssv1763480,nssv1763488,nssv1763460,nssv1763487,nssv1763469,nssv1763486,nssv1763477,nssv1763426,nssv1763467,nssv1763489,nssv1763475,nssv1763416,nssv1763455,nssv1763436,nssv1764116,nssv1763430,nssv1763484,nssv1764109,nssv1764117,nssv1763415,nssv1764120,nssv1764108,nssv1764118,nssv1763414,nssv1763482,nssv1763417,nssv1763447,nssv1763409,nssv1763408,nssv1763439,nssv1763453,nssv1763462,nssv1763448,nssv1764114,nssv1763459,nssv1764112,nssv1764119,nssv1763440,nssv1763483,nssv1763434,nssv1763446,nssv1764115,nssv1763445,nssv1763473,nssv1763481,nssv1763468,nssv1763442,nssv1763472,nssv1763451,nssv1763466,nssv1763471,nssv1763470,nssv1763443,nssv1763463,nssv1763449,nssv1763461 M 97 10 0 NBPF3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv989724 1 21659005 21659276 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3569889 M 3 0 1 NBPF3 HuRef esv2456631 1 21659007 21659278 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5375893 M 1 0 1 NBPF3 NA18507 esv1311289 1 21659007 21659279 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4347116 M 2 0 1 NBPF3 HuRef esv2195718 1 21660138 21660586 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4650166 M 1 0 1 NBPF3 NA18507 esv1213372 1 21660332 21660396 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3769496 M 2 0 1 NBPF3 HuRef nsv160214 1 21660333 21660396 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178792 M 24 NBPF3 esv3350627 1 21660652 21667250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692123 M 185 1 0 NBPF3 NA19239 nsv945575 1 21678754 21679494 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570658,nssv2570656,nssv2570660,nssv2570655,nssv2570653,nssv2570654,nssv2570657,nssv2570661,nssv2570651,nssv2570652,nssv2570662,nssv2570659 M 97 10 0 NBPF3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945576 1 21679494 21681770 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570746,nssv2570733,nssv2570682,nssv2570724,nssv2570752,nssv2570732,nssv2570750,nssv2570742,nssv2570693,nssv2570667,nssv2570697,nssv2570721,nssv2570684,nssv2570711,nssv2570687,nssv2570736,nssv2570666,nssv2570719,nssv2570677,nssv2570744,nssv2570691,nssv2570735,nssv2570679,nssv2570741,nssv2570695,nssv2570739,nssv2570670,nssv2570730,nssv2570696,nssv2570674,nssv2570751,nssv2570672,nssv2570748,nssv2570716,nssv2570673,nssv2570717,nssv2570690,nssv2570737,nssv2570671,nssv2570714,nssv2570680,nssv2570734,nssv2570686,nssv2570675,nssv2570681,nssv2570725,nssv2570688,nssv2570700,nssv2570703,nssv2570665,nssv2570745,nssv2570707,nssv2570685,nssv2570743,nssv2570747,nssv2570702,nssv2570749,nssv2570726,nssv2570753,nssv2570727,nssv2570694,nssv2570701,nssv2570699,nssv2570713,nssv2570706,nssv2570740,nssv2570683,nssv2570728,nssv2570678,nssv2570729,nssv2570754,nssv2570708,nssv2570692,nssv2570738,nssv2570704,nssv2570723,nssv2570676,nssv2570731,nssv2570689,nssv2570710,nssv2570709,nssv2570720,nssv2570722,nssv2570718,nssv2570668,nssv2570663,nssv2570715,nssv2570664,nssv2570705,nssv2570669,nssv2570698,nssv2570712 M 97 10 0 NBPF3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv527108 1 21695879 21699153 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703488 M 2026 0 1 "" nsv834391 1 21722520 21923069 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443929,nssv1443951,nssv1443940,nssv1443918,nssv1443963 M 95 0 5 ALPL,RAP1GAP,USP48 esv1457635 1 21726126 21726126 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3639911 M 2 1 0 ALPL HuRef nsv517096 1 21736278 21869435 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv678465,nssv695226,nssv683155,nssv674624,nssv652854,nssv658962,nssv682220,nssv682311,nssv667278,nssv679211,nssv671036,nssv667702,nssv657650,nssv699191,nssv653597,nssv674071,nssv705217,nssv676837,nssv651804,nssv678892,nssv661510 M 2026 0 21 ALPL,RAP1GAP nsv460740 1 21762093 21772078 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537258 M 1557 0 1 ALPL NINDS_181 nsv545736 1 21762093 21772078 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173793 M 17421 0 1 ALPL NINDS_181 nsv998678 1 21763830 21813610 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479306 M 29084 1 0 ALPL,RAP1GAP nsv477018 1 21765193 21765193 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020352 M 9 1 0 ALPL NA12878 nsv508359 1 21777461 21853278 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622758 M 4 0 1 ALPL,RAP1GAP NA18994 nsv509002 1 21777461 21853278 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619779 M 4 1 0 ALPL,RAP1GAP NA10860 nsv470704 1 21789821 21810961 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547717 M 443 1 0 RAP1GAP HGDP00599 esv1002267 1 21807902 21817453 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564498 M 3 0 1 RAP1GAP HuRef nsv475097 1 21828184 21828184 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019566 M 9 1 0 RAP1GAP NA19240 nsv460751 1 21831123 21861209 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537263 M 1557 0 1 RAP1GAP 1780854065_A nsv545737 1 21831123 21861209 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173794 M 17421 0 1 RAP1GAP 1780854065_A nsv5854 1 21875736 21910696 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3954 M 9 1 0 USP48 NA12878 nsv1008548 1 21893732 21940846 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478122 M 29084 0 1 USP48 nsv999475 1 21908447 21961428 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3480239 M 29084 0 1 USP48 nsv5965 1 21913545 21944069 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6413 M 9 1 0 USP48 NA12156 nsv508470 1 21915252 22003696 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622759 M 4 0 1 USP48 NA18994 nsv545738 1 21998916 22030950 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711289 M 17421 0 1 HSPG2,LDLRAD2 nsv515659 1 21998916 22137880 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv663807,nssv669785,nssv687314,nssv695098,nssv664272,nssv669540,nssv705427,nssv704109,nssv705759 M 2026 0 9 HSPG2,LDLRAD2 nsv9546 1 22001165 22010558 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv17753 M 31 1 0 "" NA18972 nsv509013 1 22003696 22174188 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621086 M 4 1 0 HSPG2,LDLRAD2 NA15510 esv33753 1 22004531 22009931 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv93649 M 51 0 1 "" 21972 nsv834402 1 22007819 22195709 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443985,nssv1443996,nssv1443974 M 95 0 3 CELA3B,HSPG2,LDLRAD2 esv33407 1 22011685 22011805 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv95849,essv97380,essv99600,essv99343,essv97131,essv95073,essv97064,essv94051,essv94942,essv100572,essv94306 M 51 11 0 LDLRAD2 21721,21802,21808,21817,21879,21911,22075,22217,22231,22275,22298 nsv460762 1 22014570 22057139 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537273 M 1557 0 1 HSPG2,LDLRAD2 NINDS_70 dgv180n54 1 22014570 22063520 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545739,nsv545740 M 17421 0 2 HSPG2,LDLRAD2 NINDS_70 nsv469549 1 22014652 22219090 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1674276,nssv1675868,nssv1675099 M 265 0 3 CELA3A,CELA3B,HSPG2,LDLRAD2 esv1196174 1 22017235 22017370 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3606269 M 2 0 1 LDLRAD2 HuRef nsv470706 1 22019664 22200865 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547718,nssv547719 M 443 0 2 CELA3A,CELA3B,HSPG2,LDLRAD2 HGDP00546,HGDP00550 nsv545741 1 22022522 22038488 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711291 M 17421 1 0 HSPG2,LDLRAD2 nsv460784 1 22057139 22088866 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537294 M 1557 0 1 HSPG2 HGDP00857 nsv545742 1 22057139 22088866 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173796 M 17421 0 1 HSPG2 HGDP00857 esv1003020 1 22063120 22084921 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564134 M 3 0 1 HSPG2 HuRef nsv545743 1 22071762 22079529 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711292 M 17421 0 1 HSPG2 esv2758927 1 22095108 22285444 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757727 M 270 0 1 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 NA12057 nsv945815 1 22106159 22109092 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764195,nssv1764204,nssv1764196,nssv1764129,nssv1764187,nssv1764124,nssv1764212,nssv1764127,nssv1764158,nssv1764202,nssv1764178,nssv1764198,nssv1764161,nssv1764138,nssv1764173,nssv1764126,nssv1764146,nssv1764142,nssv1764168,nssv1764145,nssv1764189,nssv1764149,nssv1764148,nssv1764140,nssv1764197,nssv1764135,nssv1764153,nssv1764136,nssv1764156,nssv1764133,nssv1764166,nssv1764137,nssv1764121,nssv1764150,nssv1764171,nssv1764199,nssv1764190,nssv1764139,nssv1764194,nssv1764134,nssv1764188,nssv1764128,nssv1764209,nssv1764132,nssv1764177,nssv1764131,nssv1764182,nssv1764125,nssv1764175,nssv1764203,nssv1764186,nssv1764141,nssv1764213,nssv1764207,nssv1764147,nssv1764143,nssv1764164,nssv1764123,nssv1764167,nssv1764206,nssv1764170,nssv1764205,nssv1764157,nssv1764200,nssv1764165,nssv1764201,nssv1764174,nssv1764130,nssv1764179,nssv1764152,nssv1764210,nssv1764122,nssv1764181,nssv1764172,nssv1764185,nssv1764215,nssv1764184,nssv1764159,nssv1764191,nssv1764160,nssv1764180,nssv1764217,nssv1764162,nssv1764211,nssv1764216,nssv1764163,nssv1764193,nssv1764155,nssv1764192,nssv1764183,nssv1764169,nssv1764208,nssv1764154,nssv1764214,nssv1764151,nssv1764144,nssv1764176 M 97 10 0 HSPG2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv834413 1 22107800 22292761 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444029,nssv1444018,nssv1444007,nssv1444040 M 95 0 4 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 nsv460795 1 22122176 22157082 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537305 M 1557 0 1 HSPG2 NINDS_74 nsv545744 1 22122176 22157082 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173797 M 17421 0 1 HSPG2 NINDS_74 esv1468707 1 22158993 22159043 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3697282 M 2 0 1 "" HuRef nsv945816 1 22165536 22209303 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764301,nssv1764273,nssv1764304,nssv1764308,nssv1764295,nssv1764269,nssv1764229,nssv1764268,nssv1764300,nssv1764270,nssv1764299,nssv1764280,nssv1764235,nssv1764284,nssv1764223,nssv1764261,nssv1764298,nssv1764278,nssv1764303,nssv1764259,nssv1764242,nssv1764311,nssv1764225,nssv1764260,nssv1764230,nssv1764290,nssv1764219,nssv1764310,nssv1764224,nssv1764241,nssv1764239,nssv1764248,nssv1764232,nssv1764266,nssv1764238,nssv1764294,nssv1764237,nssv1764309,nssv1764226,nssv1764267,nssv1764228,nssv1764293,nssv1764227,nssv1764265,nssv1764220,nssv1764250,nssv1764249,nssv1764275,nssv1764221,nssv1764258,nssv1764234,nssv1764292,nssv1764297,nssv1764289,nssv1764296,nssv1764243,nssv1764236,nssv1764305,nssv1764231,nssv1764306,nssv1764222,nssv1764253,nssv1764246,nssv1764313,nssv1764240,nssv1764274,nssv1764302,nssv1764218,nssv1764233,nssv1764285,nssv1764247,nssv1764279,nssv1764287,nssv1764251,nssv1764276,nssv1764263,nssv1764291,nssv1764272,nssv1764245,nssv1764262,nssv1764255,nssv1764254,nssv1764271,nssv1764277,nssv1764257,nssv1764288,nssv1764283,nssv1764252,nssv1764281,nssv1764312,nssv1764282,nssv1764286,nssv1764264,nssv1764314,nssv1764307,nssv1764256,nssv1764244 M 97 10 0 CELA3A,CELA3B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv24116 1 22166472 22214926 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12969,esv9848 M 40 0 3 CELA3A,CELA3B NA18861,NA18907,NA19257 nsv436921 1 22172760 22190556 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465918 M 2 1 0 CELA3B NA18505 esv7729 1 22180202 22205018 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30170 M 1 0 0 CELA3A,CELA3B nsv9657 1 22182113 22215918 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv12446,nssv18083 M 31 0 2 CELA3A,CELA3B NA18972,NA19007 esv2760299 1 22182461 22210712 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7008299,essv7008522,essv7008410,essv7008077,essv7008188,essv7008633 M 1109 0 6 CELA3A,CELA3B SW_0086,SW_0148,SW_0285,SW_0883,SW_1031,SW_1125 esv2764236 1 22182461 22230852 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005204,essv7005185,essv7005196,essv7005194,essv7005193,essv7005200,essv7005191,essv7005195,essv7005199,essv7005198,essv7005184,essv7005187,essv7005197,essv7005183,essv7005192,essv7005186,essv7005203,essv7005202 M 1109 2 16 CELA3A,CELA3B,LINC00339 RW_0020,RW_0028,RW_0071,RW_0084,RW_0088,RW_0129,RW_0147,RW_0148,RW_0180,RW_0197,RW_0331,RW_0505,RW_0558,RW_0575,RW_0577,RW_0605,RW_0621,RW_0666 dgv27n67 1 22188645 22216691 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv821954,nsv821965 M 31 0 2 CELA3A NA18570,NA18972 nsv441686 1 22193098 22209830 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656604,nssv1656606,nssv1656605,nssv1656608,nssv1656611,nssv1656609,nssv1656600,nssv1656610,nssv1656617,nssv1656612,nssv1656601,nssv1656620,nssv1656615,nssv1656614,nssv1656613,nssv1656607,nssv1656621,nssv1656603,nssv1656618,nssv1656616,nssv1656619,nssv1656602 M 270 0 22 CELA3A NA12057,NA18522,NA18529,NA18545,NA18570,NA18861,NA18863,NA18948,NA18949,NA18970,NA18972,NA18981,NA18991,NA18994,NA19003,NA19005,NA19007,NA19012,NA19153,NA19154,NA19171,NA19206 esv2422105 1 22193102 22203126 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5122038,essv5092401,essv5139034,essv5093683,essv5062103,essv5079757,essv5116678,essv5112361,essv5160488,essv5026382,essv5012250,essv5160939,essv5114201,essv5057648,essv5087741,essv5099755,essv5004304,essv5048628,essv5014076,essv5009703,essv5072556,essv5013849,essv5120929,essv5068701,essv5005963,essv5099187,essv5047107,essv5010298,essv5136010,essv5027369,essv5151805,essv5060599,essv5048433,essv5030225,essv5092266,essv5066006,essv5039091,essv5086958,essv5090968,essv5126066,essv5089636,essv5139157,essv5155528,essv5101041,essv5131129,essv5087547,essv5109676,essv5052234,essv5073331,essv5140524,essv5082060,essv5040804,essv5060991,essv5137057,essv5012703,essv5025821,essv5098330,essv5048896,essv5130100,essv5029182,essv5052611,essv5160782,essv5010859,essv5035309,essv5039080,essv5152666,essv5089331,essv5122800,essv5092467,essv5153959,essv5057717,essv5098002,essv5047066,essv5051602,essv5079332,essv5117747,essv5156755,essv5097180,essv5048403,essv5082807,essv5040269,essv5106182,essv5122426,essv5051720,essv5127647,essv5031926,essv5069364,essv5150276,essv5049931,essv5107178,essv5008724,essv5127796,essv5013797,essv5144788,essv5079181,essv5069649,essv5067557,essv5007855,essv5021959,essv5135997,essv5013711,essv5004960,essv5118566,essv5094720 M 1184 0 104 CELA3A NA06986,NA10852,NA12057,NA17970,NA17976,NA17979,NA17998,NA18108,NA18109,NA18135,NA18146,NA18147,NA18161,NA18498,NA18529,NA18545,NA18570,NA18615,NA18616,NA18617,NA18628,NA18645,NA18647,NA18861,NA18863,NA18910,NA18911,NA18923,NA18925,NA18948,NA18949,NA18970,NA18972,NA18977,NA18979,NA18981,NA18991,NA18994,NA19005,NA19007,NA19070,NA19085,NA19086,NA19153,NA19154,NA19171,NA19184,NA19186,NA19248,NA19249,NA19257,NA19258,NA19313,NA19315,NA19317,NA19319,NA19334,NA19372,NA19396,NA19397,NA19440,NA19445,NA19446,NA19452,NA19457,NA19462,NA19467,NA19473,NA19750,NA19834,NA20126,NA20128,NA20282,NA20284,NA20333,NA20334,NA20335,NA20336,NA20540,NA20544,NA20774,NA20806,NA20818,NA20891,NA20900,NA20909,NA20910,NA21107,NA21295,NA21333,NA21378,NA21390,NA21424,NA21473,NA21520,NA21597,NA21599,NA21601,NA21613,NA21614,NA21717,NA21733,NA21739,NA21776 nsv528664 1 22200866 22261914 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv705302 M 2026 1 0 CDC42,CELA3A,LINC00339 nsv545745 1 22217680 22262659 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711293 M 17421 0 1 CDC42,LINC00339 nsv545746 1 22259809 22263284 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711294 M 17421 0 1 CDC42 nsv945817 1 22277190 22277858 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763895,nssv1763860,nssv1764330,nssv1763876,nssv1763832,nssv1763853,nssv1764326,nssv1763870,nssv1763829,nssv1763901,nssv1764325,nssv1763838,nssv1764320,nssv1763888,nssv1763843,nssv1763846,nssv1763833,nssv1763865,nssv1763831,nssv1763884,nssv1764319,nssv1763883,nssv1764322,nssv1763904,nssv1763828,nssv1763907,nssv1764329,nssv1763869,nssv1763898,nssv1763855,nssv1763889,nssv1763849,nssv1763890,nssv1763881,nssv1764327,nssv1763864,nssv1764323,nssv1763880,nssv1764318,nssv1763908,nssv1763836,nssv1763861,nssv1764316,nssv1763905,nssv1763830,nssv1763854,nssv1763840,nssv1763835,nssv1764317,nssv1763847,nssv1763894,nssv1763837,nssv1764324,nssv1763871,nssv1764328,nssv1763842,nssv1763892,nssv1763886,nssv1763834,nssv1763859,nssv1764321,nssv1763903,nssv1763891,nssv1763867,nssv1763896,nssv1763850,nssv1763893,nssv1764315,nssv1763841,nssv1763887,nssv1763897,nssv1763862,nssv1763878,nssv1763875,nssv1763844,nssv1763885,nssv1763858,nssv1763863,nssv1763882,nssv1763866,nssv1763879,nssv1763856,nssv1763906,nssv1763868,nssv1763845,nssv1763873,nssv1763902,nssv1763899,nssv1763851,nssv1763852,nssv1763877,nssv1763857,nssv1763848,nssv1763900,nssv1763872,nssv1763874,nssv1763839 M 97 10 0 CDC42 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945818 1 22285358 22286470 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763924,nssv1763998,nssv1763940,nssv1763948,nssv1763995,nssv1763976,nssv1763994,nssv1763932,nssv1763938,nssv1763973,nssv1763929,nssv1763955,nssv1763923,nssv1763965,nssv1763914,nssv1763970,nssv1763915,nssv1763979,nssv1763920,nssv1763946,nssv1763989,nssv1763943,nssv1763930,nssv1763954,nssv1763921,nssv1763945,nssv1763928,nssv1763967,nssv1763992,nssv1763972,nssv1763925,nssv1763947,nssv1763922,nssv1763971,nssv1763987,nssv1763974,nssv1763927,nssv1764003,nssv1763912,nssv1763969,nssv1763918,nssv1763996,nssv1763913,nssv1763999,nssv1763919,nssv1763942,nssv1763988,nssv1763951,nssv1763937,nssv1764004,nssv1763990,nssv1763980,nssv1763991,nssv1763935,nssv1763916,nssv1763962,nssv1763931,nssv1763952,nssv1763917,nssv1764001,nssv1763926,nssv1763957,nssv1763993,nssv1763966,nssv1763933,nssv1763981,nssv1763986,nssv1764005,nssv1763910,nssv1763950,nssv1763911,nssv1763958,nssv1763949,nssv1763968,nssv1763997,nssv1763961,nssv1763939,nssv1763985,nssv1764000,nssv1764002,nssv1763944,nssv1763956,nssv1763964,nssv1763959,nssv1763934,nssv1763975,nssv1763978,nssv1763984,nssv1763983,nssv1763941,nssv1763936,nssv1763963,nssv1763953,nssv1763909,nssv1763977,nssv1763982,nssv1763960 M 97 10 0 CDC42 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6076 1 22288886 22322991 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2871 M 9 1 0 CDC42,WNT4 NA18555 nsv945819 1 22290163 22291873 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764014,nssv1764079,nssv1764089,nssv1764006,nssv1764015,nssv1764032,nssv1764030,nssv1764042,nssv1764085,nssv1764096,nssv1764013,nssv1764075,nssv1764087,nssv1764069,nssv1764021,nssv1764073,nssv1764012,nssv1764043,nssv1764016,nssv1764067,nssv1764018,nssv1764051,nssv1764023,nssv1764052,nssv1764008,nssv1764064,nssv1764011,nssv1764060,nssv1764026,nssv1764062,nssv1764020,nssv1764071,nssv1764017,nssv1764050,nssv1764092,nssv1764033,nssv1764027,nssv1764044,nssv1764025,nssv1764076,nssv1764010,nssv1764057,nssv1764086,nssv1764070,nssv1764022,nssv1764095,nssv1764019,nssv1764098,nssv1764091,nssv1764074,nssv1764037,nssv1764045,nssv1764034,nssv1764039,nssv1764084,nssv1764099,nssv1764024,nssv1764082,nssv1764088,nssv1764066,nssv1764035,nssv1764077,nssv1764009,nssv1764040,nssv1764083,nssv1764046,nssv1764028,nssv1764048,nssv1764090,nssv1764093,nssv1764007,nssv1764068,nssv1764054,nssv1764100,nssv1764102,nssv1764038,nssv1764059,nssv1764065,nssv1764078,nssv1764063,nssv1764101,nssv1764047,nssv1764029,nssv1764049,nssv1764097,nssv1764036,nssv1764055,nssv1764058,nssv1764061,nssv1764053,nssv1764072,nssv1764080,nssv1764094,nssv1764056,nssv1764081,nssv1764041,nssv1764031 M 97 10 0 CDC42 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv460806 1 22324432 22385434 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537310 M 1557 0 1 WNT4 1780862415_A nsv545747 1 22324432 22385434 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173798 M 17421 0 1 WNT4 1780862415_A esv2762135 1 22360087 22367431 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005205 M 1109 0 1 "" RW_0118 nsv517086 1 22372117 22385434 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv669739,nssv664643,nssv677352,nssv671842,nssv663876,nssv663458,nssv666144,nssv679575,nssv671692,nssv665257,nssv684635,nssv656347,nssv653181,nssv682668,nssv664021,nssv683851,nssv676101,nssv687280,nssv682790,nssv653762,nssv661058 M 2026 0 21 "" esv2421859 1 22372815 22381838 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5026109,essv5062450,essv5095704,essv5007542,essv5054217,essv5112577,essv5138053,essv5119150,essv5016642,essv5060034,essv5054726,essv5117300,essv5043047,essv5006220,essv5142667,essv5046500,essv5114057,essv5095750,essv5147501,essv5155133,essv5009562,essv5025384,essv5102934,essv5143680,essv5106782,essv5081713,essv5023611,essv5066431,essv5063248,essv5139059 M 1184 0 30 "" NA18497,NA18855,NA18857,NA18868,NA18869,NA18933,NA18935,NA19107,NA19109,NA19113,NA19122,NA19247,NA19249,NA19379,NA19438,NA19451,NA19466,NA19713,NA19983,NA20336,NA20337,NA20341,NA20342,NA20348,NA21360,NA21361,NA21400,NA21401,NA21587,NA21650 esv2764193 1 22374303 22381793 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005213,essv7005215,essv7005222,essv7005218,essv7005207,essv7005224,essv7005220,essv7005206,essv7005217,essv7005214,essv7005216,essv7005227,essv7005211,essv7005228,essv7005226,essv7005225,essv7005229,essv7005219,essv7005209,essv7005221,essv7005208,essv7005210 M 1109 0 22 "" RW_0001,RW_0069,RW_0078,RW_0093,RW_0107,RW_0114,RW_0120,RW_0145,RW_0152,RW_0200,RW_0228,RW_0231,RW_0258,RW_0266,RW_0323,RW_0527,RW_0559,RW_0587,RW_0601,RW_0616,RW_0653,RW_0665 esv2585230 1 22398305 22399741 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5282711 M 1 0 1 "" NA18507 nsv522370 1 22428580 22464043 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695150 M 2026 0 1 "" nsv516575 1 22461580 22470644 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv674738,nssv669268 M 2026 0 2 "" nsv522775 1 22472660 22472754 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698416 M 2026 0 1 "" nsv159512 1 22472667 22481250 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178090 M 24 "" nsv528939 1 22472754 22480144 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705630 M 2026 0 1 "" dgv131n100 1 22485277 22678479 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002972,nsv1014969 M 29084 2 0 ZBTB40 nsv945820 1 22519853 22523206 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765045,nssv1765078,nssv1765106,nssv1765097,nssv1765051,nssv1765101,nssv1764105,nssv1765084,nssv1765110,nssv1765115,nssv1765058,nssv1765094,nssv1765038,nssv1765076,nssv1765035,nssv1765082,nssv1765047,nssv1765061,nssv1765055,nssv1765074,nssv1765044,nssv1765089,nssv1765042,nssv1765067,nssv1765040,nssv1765065,nssv1765041,nssv1765102,nssv1765032,nssv1765052,nssv1765113,nssv1765077,nssv1765112,nssv1765096,nssv1765039,nssv1765092,nssv1765109,nssv1765123,nssv1765046,nssv1764103,nssv1765048,nssv1765071,nssv1764106,nssv1765062,nssv1765108,nssv1765075,nssv1765033,nssv1765059,nssv1765037,nssv1765072,nssv1765043,nssv1765050,nssv1765107,nssv1765099,nssv1765105,nssv1765087,nssv1764107,nssv1765080,nssv1765036,nssv1765079,nssv1765104,nssv1765091,nssv1765056,nssv1765085,nssv1765034,nssv1765054,nssv1765111,nssv1765060,nssv1765049,nssv1765093,nssv1764104,nssv1765120,nssv1765118,nssv1765083,nssv1765114,nssv1765064,nssv1765122,nssv1765090,nssv1765081,nssv1765088,nssv1765073,nssv1765098,nssv1765053,nssv1765068,nssv1765057,nssv1765100,nssv1765070,nssv1765103,nssv1765063,nssv1765121,nssv1765116,nssv1765119,nssv1765086,nssv1765117,nssv1765066,nssv1765069,nssv1765095 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv520015 1 22547808 22555617 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697178 M 2026 0 1 "" nsv159392 1 22552144 22552282 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177970 M 24 "" nsv545748 1 22583965 22615572 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711295 M 17421 0 1 "" nsv6187 1 22588151 22608508 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3965 M 9 0 1 "" NA12878 nsv472291 1 22593413 22593413 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020184 M 9 1 0 "" NA18555 esv3401180 1 22654844 22654844 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701365 M 185 1 0 ZBTB40 NA12878 nsv6298 1 22705095 22750151 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8765 M 9 0 1 ZBTB40 NA12156 nsv506921 1 22707136 22713136 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619226,nssv623263,nssv620646 M 4 0 0 ZBTB40 NA10860,NA15510,NA18994 nsv819803 1 22728268 22728572 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418549 M 2 1 0 ZBTB40 AK1 nsv509024 1 22736070 22780823 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619780 M 4 1 0 EPHA8 NA10860 nsv480045 1 22738875 22738875 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017056 M 9 0 0 "" nsv545749 1 22750400 22824973 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711296,nssv711297 M 17421 0 2 EPHA8 nsv545750 1 22758353 22763508 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711298 M 17421 0 1 EPHA8 esv27002 1 22759112 22760850 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17180 M 40 0 1 "" NA18858 esv26050 1 22761762 22763766 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv12203,esv13267 M 40 3 0 EPHA8 NA06985,NA12044,NA18861 dgv181n54 1 22761790 22763656 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545752,nsv545751 M 17421 0 2 EPHA8 nsv545753 1 22762059 22763242 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711301 M 17421 0 1 EPHA8 dgv182n54 1 22762436 22763553 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545755,nsv545756,nsv545757 M 17421 4 0 EPHA8 dgv183n54 1 22762436 22763656 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545754,nsv545758 M 17421 0 3 EPHA8 dgv184n54 1 22762634 22763402 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545760,nsv545759 M 17421 0 2 EPHA8 dgv185n54 1 22763029 22763710 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545766,nsv545761 M 17421 2 0 EPHA8 dgv186n54 1 22763045 22763502 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545763,nsv545762 M 17421 0 2 EPHA8 dgv187n54 1 22763045 22763729 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545764,nsv545765,nsv545767 M 17421 0 3 EPHA8 nsv545768 1 22763191 22763508 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711318 M 17421 0 1 EPHA8 dgv188n54 1 22763242 22763604 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545769,nsv545770 M 17421 3 0 EPHA8 nsv545771 1 22763242 22763656 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711324,nssv711323,nssv711325,nssv711322 M 17421 2 2 EPHA8 dgv189n54 1 22763242 22763729 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545772,nsv545773 M 17421 0 3 EPHA8 dgv63e59 1 22769510 22769623 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3302676,esv3302704 M 185 0 0 EPHA8 NA12878,NA18501,NA18502,NA18508,NA18511,NA18522,NA18870,NA18916,NA18948,NA18952,NA18956,NA18965,NA19093,NA19108,NA19129,NA19225,NA19238,NA19239,NA19240,NA19257 esv3374857 1 22769528 22769622 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8670870,essv8670872,essv8670869,essv8670871 M 185 4 0 EPHA8 NA12878,NA19238,NA19239,NA19240 esv994542 1 22773973 22779231 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565422 M 3 1 0 EPHA8 HuRef dgv64e59 1 22776652 22779250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3382026,esv3437457 M 185 2 0 EPHA8 NA19238,NA19240 esv3577 1 22776903 22777261 CNV loss Wang_et_al_2008 18987735 Sequencing essv26018 M 1 0 1 EPHA8 YH nsv820259 1 22776986 22777082 CNV insertion Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418885 M 2 1 0 EPHA8 AK1 esv3440698 1 22777052 22778650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692159 M 185 1 0 EPHA8 NA19239 esv1707275 1 22777074 22777074 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3714244 M 2 1 0 EPHA8 HuRef nsv160591 1 22777075 22778172 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179169 M 24 EPHA8 esv4502 1 22777998 22778245 CNV loss Wang_et_al_2008 18987735 Sequencing essv26943 M 1 0 1 EPHA8 YH esv34161 1 22798842 23016810 CNV loss Gusev_et_al_2009 18971310 SNP array essv6990600 M 270 0 0 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684,MIR6127 nsv476854 1 22815403 22815403 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014206 M 9 1 0 "" NA12878 nsv473644 1 22845387 22845387 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016456 M 9 1 0 C1QC NA19129 esv1510090 1 22858408 22858470 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4329170 M 2 0 1 C1QB HuRef dgv65e59 1 22877152 22878250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3330989,esv3367482 M 185 2 0 "" NA19238,NA19239 esv3327416 1 22877352 22878650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692163 M 185 1 0 "" NA19240 nsv481144 1 22914009 22914009 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019815 M 9 0 0 EPHB2 esv2538911 1 22953450 22954195 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5338263 M 1 1 0 EPHB2 NA18507 nsv512725 1 22953875 22954105 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625350 M 1 1 0 EPHB2 1 nsv469829 1 22954609 23135997 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1673091,nssv1676469,nssv1672672,nssv1672826 M 265 0 4 EPHB2,MIR4253 nsv509036 1 22979219 23058578 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619781 M 4 1 0 EPHB2 NA10860 nsv476503 1 22981291 22981291 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011294 M 9 1 0 EPHB2 NA12878 esv1389294 1 23002726 23002776 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3987352 M 2 0 1 EPHB2 HuRef nsv1012432 1 23017176 23037343 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473195 M 29084 0 1 EPHB2 nsv528926 1 23061710 23079271 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705616 M 2026 0 1 EPHB2,MIR4253 nsv6409 1 23097385 23129238 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1954 M 9 1 0 EPHB2 NA18555 esv2504682 1 23149050 23149979 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5188949 M 1 1 0 "" NA18507 esv1485438 1 23149534 23149534 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4125835 M 2 1 0 "" HuRef nsv819213 1 23183977 23211560 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418711 M 2 0 1 C1orf234 AK1 esv3425192 1 23244753 23244761 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863681 M 185 1 0 KDM1A NA12005 nsv6520 1 23276956 23295633 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5396 M 9 1 0 KDM1A,LUZP1 NA19129 nsv819728 1 23317319 23321760 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419637 M 2 0 1 LUZP1 AK1 nsv834424 1 23331991 23475289 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444051 M 95 0 1 HTR1D,LUZP1 nsv821976 1 23367288 23368997 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1429554 M 31 1 0 LUZP1 AK14 nsv479944 1 23436357 23436357 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020457 M 9 0 0 "" nsv481230 1 23441227 23441227 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017604 M 9 0 0 "" nsv480038 1 23442109 23442109 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011032 M 9 0 0 "" nsv945824 1 23443034 23444347 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765193,nssv1765263,nssv1765187,nssv1765211,nssv1765203,nssv1765201,nssv1765257,nssv1765229,nssv1765199,nssv1765226,nssv1765179,nssv1765230,nssv1765204,nssv1765270,nssv1765258,nssv1765231,nssv1765255,nssv1765264,nssv1765184,nssv1765228,nssv1765256,nssv1765265,nssv1765176,nssv1765238,nssv1765252,nssv1765214,nssv1765192,nssv1765241,nssv1765183,nssv1765237,nssv1765206,nssv1765236,nssv1765189,nssv1765267,nssv1765180,nssv1765218,nssv1765261,nssv1765268,nssv1765178,nssv1765210,nssv1765188,nssv1765216,nssv1765177,nssv1765239,nssv1765182,nssv1765224,nssv1765196,nssv1765245,nssv1765190,nssv1765248,nssv1765195,nssv1765222,nssv1765194,nssv1765243,nssv1765191,nssv1765246,nssv1765185,nssv1765217,nssv1765254,nssv1765209,nssv1765260,nssv1765235,nssv1765181,nssv1765269,nssv1765186,nssv1765249,nssv1765253,nssv1765205,nssv1765259,nssv1765250,nssv1765197,nssv1765251,nssv1765232,nssv1765213,nssv1765207,nssv1765198,nssv1765219,nssv1765227,nssv1765240,nssv1765244,nssv1765220,nssv1765208,nssv1765233,nssv1765223,nssv1765225,nssv1765242,nssv1765247,nssv1765215,nssv1765234,nssv1765271,nssv1765175,nssv1765262,nssv1765221,nssv1765266,nssv1765202,nssv1765212,nssv1765200 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv475902 1 23443910 23443910 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011902 M 9 1 0 "" NA12878 nsv480771 1 23444563 23444563 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016100 M 9 0 0 "" nsv480819 1 23445465 23445465 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017381 M 9 0 0 "" nsv6631 1 23466481 23485360 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv964,nssv1966,nssv5405,nssv6423,nssv10760,nssv3974,nssv9804 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv509047 1 23470552 23489158 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619782,nssv617990,nssv623777,nssv621087 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1003688 1 23475723 23476851 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564590 M 3 1 0 "" HuRef nsv525446 1 23568739 23573899 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv701574 M 2026 1 0 C1orf213,ZNF436 nsv521882 1 23583062 23587252 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694653 M 2026 0 1 TCEA3 nsv512726 1 23591356 23591714 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625351 M 1 1 0 TCEA3 1 esv9540 1 23591438 23591769 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31981 M 1 0 0 TCEA3 esv2558689 1 23591446 23591647 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5285756 M 1 0 1 TCEA3 NA18507 dgv28n67 1 23609069 23610338 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv821998,nsv821987 M 31 0 7 TCEA3 AK16,AK18,AK4,NA18547,NA18582,NA18592,NA18999 esv3326511 1 23654652 23656550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692194 M 185 1 0 ASAP3 NA19239 nsv834435 1 23672049 23850518 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444062,nssv1444074 M 95 0 2 ASAP3,E2F2,ID3,MDS2 nsv819574 1 23682227 23683902 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419305 M 2 1 0 ASAP3 AK1 esv3413244 1 23694302 23694302 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8823867 M 185 1 0 "" NA12878 esv3417759 1 23694324 23694324 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8638759 M 185 0 0 "" esv1790599 1 23694331 23694331 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3794850 M 2 1 0 "" HuRef esv3417141 1 23723185 23723192 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863682 M 185 1 0 E2F2 NA12005 nsv160295 1 23763647 23767838 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178873 M 24 "" nsv460840 1 23809848 23860948 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537340 M 1557 0 1 MDS2 1780862162_A nsv545774 1 23809848 23860948 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173799 M 17421 0 1 MDS2 1780862162_A esv275297 1 23830358 23833443 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585424 M 1250 0 1 MDS2 esv3303493 1 23853709 23853710 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7763444,essv7766407,essv7764690,essv7767072,essv7767723,essv7768890,essv7765382,essv7768115 M 185 8 0 "" NA07347,NA11918,NA12234,NA12249,NA12287,NA12878,NA12891,NA12892 esv3309057 1 23853711 23853712 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7840539,essv7841153,essv7839894 M 185 3 0 "" NA12878,NA12891,NA12892 esv3430049 1 23853718 23853728 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8673983,essv8673984,essv8673982 M 185 3 0 "" NA12878,NA12891,NA12892 nsv160080 1 23876065 23879493 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178658 M 24 "" nsv473882 1 23903573 23903573 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018778 M 9 1 0 "" NA12156 esv1587089 1 24036505 24036505 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4060701 M 2 1 0 "" HuRef esv29329 1 24072733 24073978 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15695,esv12811 M 40 0 15 CNR2 NA11894,NA11931,NA11993,NA12004,NA12749,NA12878,NA18505,NA18511,NA18517,NA18861,NA18907,NA18909,NA19147,NA19190,NA19225 dgv29n67 1 24073049 24073899 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822020,nsv822009,nsv822032,nsv822043 M 31 0 5 CNR2 AK2,AK6,NA18947,NA18951,NA18972 dgv190n54 1 24073111 24073749 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545775,nsv545776,nsv545777 M 17421 0 3 CNR2 nsv545778 1 24073346 24073749 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711335,nssv711334,nssv711332,nssv711333 M 17421 0 4 CNR2 dgv191n54 1 24073359 24073944 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545780,nsv545779 M 17421 0 4 CNR2 esv991485 1 24081324 24087471 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563891 M 3 1 0 CNR2 HuRef nsv512727 1 24082950 24083431 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625352 M 1 1 0 CNR2 1 esv1663042 1 24083423 24083423 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4228988 M 2 1 0 CNR2 HuRef esv3418378 1 24116502 24116512 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863683 M 185 1 0 "" NA12005 nsv6742 1 24126500 24159968 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2882 M 9 1 0 MIR378F,PNRC2 NA18555 nsv945826 1 24141234 24148293 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764963,nssv1764984,nssv1764961,nssv1765963,nssv1764967,nssv1764975,nssv1764955,nssv1765004,nssv1764972,nssv1764966,nssv1764947,nssv1764981,nssv1765026,nssv1765012,nssv1764954,nssv1765030,nssv1765023,nssv1764973,nssv1764951,nssv1765000,nssv1765273,nssv1765958,nssv1764953,nssv1764991,nssv1764960,nssv1764988,nssv1764948,nssv1764978,nssv1764949,nssv1764987,nssv1765025,nssv1764993,nssv1764958,nssv1765011,nssv1765028,nssv1765019,nssv1764964,nssv1764989,nssv1764952,nssv1764976,nssv1765022,nssv1765031,nssv1764962,nssv1765008,nssv1764950,nssv1764968,nssv1765020,nssv1765002,nssv1765024,nssv1765001,nssv1764959,nssv1765015,nssv1764946,nssv1765959,nssv1764956,nssv1764983,nssv1765274,nssv1764980,nssv1764971,nssv1764997,nssv1764974,nssv1765010,nssv1764957,nssv1765957,nssv1765021,nssv1764996,nssv1765029,nssv1765961,nssv1765027,nssv1764970,nssv1764965,nssv1764982,nssv1764994,nssv1764986,nssv1765007,nssv1764995,nssv1764969,nssv1765960,nssv1765016,nssv1764979,nssv1764990,nssv1764977,nssv1765014,nssv1764985,nssv1765005,nssv1765003,nssv1765006,nssv1765272,nssv1764999,nssv1765013,nssv1765962,nssv1764998,nssv1765009,nssv1765956,nssv1765018,nssv1765017,nssv1764992 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945827 1 24168278 24170467 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765971,nssv1766013,nssv1766041,nssv1766057,nssv1765982,nssv1766018,nssv1765980,nssv1766034,nssv1765993,nssv1765998,nssv1765968,nssv1766033,nssv1766043,nssv1766030,nssv1766048,nssv1766059,nssv1766047,nssv1766010,nssv1765969,nssv1766053,nssv1765979,nssv1766054,nssv1765981,nssv1766028,nssv1765983,nssv1766020,nssv1765976,nssv1765989,nssv1766050,nssv1766019,nssv1765995,nssv1766032,nssv1765970,nssv1765994,nssv1765978,nssv1766035,nssv1765984,nssv1766007,nssv1765975,nssv1766005,nssv1765986,nssv1766017,nssv1765985,nssv1765996,nssv1766049,nssv1766025,nssv1766044,nssv1766003,nssv1765965,nssv1766040,nssv1765966,nssv1766029,nssv1766046,nssv1766026,nssv1765992,nssv1766021,nssv1765974,nssv1766056,nssv1765972,nssv1766024,nssv1766042,nssv1766014,nssv1765967,nssv1766012,nssv1766045,nssv1766039,nssv1765973,nssv1766055,nssv1765988,nssv1766052,nssv1765977,nssv1766006,nssv1765991,nssv1766009,nssv1766015,nssv1766022,nssv1766016,nssv1766060,nssv1766001,nssv1766031,nssv1766037,nssv1765990,nssv1766000,nssv1765997,nssv1766058,nssv1766036,nssv1766008,nssv1766051,nssv1766038,nssv1766004,nssv1766011,nssv1766002,nssv1766027,nssv1766023,nssv1765999,nssv1765987,nssv1765964 M 97 10 0 SRSF10 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv511683 1 24191456 24194778 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626322 M 1 0 1 "" 1 esv3393873 1 24201348 24201367 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593802,essv9593813 M 185 2 0 "" NA12287,NA12873 nsv475436 1 24255969 24255969 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014221 M 9 1 0 MYOM3 NA19240 esv2609872 1 24275040 24276823 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5352209 M 1 0 1 MYOM3 NA18507 esv5851 1 24275314 24276190 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28292 M 1 0 0 MYOM3 esv1968924 1 24275390 24276076 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4552184 M 1 0 1 MYOM3 NA18507 esv989974 1 24275574 24275890 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571507 M 3 0 1 MYOM3 HuRef esv1250620 1 24275590 24275907 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3762899 M 2 0 1 MYOM3 HuRef nsv822054 1 24280927 24281558 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431798 M 31 0 1 MYOM3 AK20 nsv472633 1 24302735 24302735 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015597 M 9 1 0 MYOM3 NA18555 nsv506922 1 24347155 24353155 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619227,nssv617526,nssv623264,nssv620647 M 4 0 0 "" CHM,NA10860,NA15510,NA18994 nsv506923 1 24364233 24370233 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619228,nssv617527,nssv623265,nssv620649 M 4 0 0 IFNLR1 CHM,NA10860,NA15510,NA18994 nsv6853 1 24364700 24398808 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8821 M 9 1 0 IFNLR1 NA12156 nsv545781 1 24389467 24395879 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711340 M 17421 0 1 "" esv29789 1 24392931 24396291 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14913 M 40 0 7 "" NA07037,NA07045,NA11993,NA12004,NA12044,NA12414,NA12749 dgv30n67 1 24393400 24395993 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822065,nsv822087,nsv822076 M 31 0 14 "" AK12,AK14,AK18,AK20,AK6,AK8,NA18542,NA18547,NA18570,NA18592,NA18942,NA18951,NA18969,NA18973 dgv192n54 1 24394051 24395330 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545786,nsv545790,nsv545784,nsv545783,nsv545791,nsv545785,nsv545782,nsv545792 M 17421 0 74 "" dgv193n54 1 24394051 24395879 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545794,nsv545788,nsv545787,nsv545789,nsv545793,nsv545797 M 17421 0 93 "" dgv194n54 1 24394429 24395330 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545796,nsv545795 M 17421 0 2 "" nsv545798 1 24394429 24398583 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711510 M 17421 0 1 "" dgv195n54 1 24394635 24395330 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545801,nsv545799 M 17421 0 4 "" nsv545800 1 24394635 24395575 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711513 M 17421 0 1 "" dgv196n54 1 24394778 24395879 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545803,nsv545804,nsv545802 M 17421 0 4 "" nsv475891 1 24412733 24412733 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015467 M 9 1 0 "" NA12878 nsv822098 1 24428586 24429374 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434162 M 31 0 1 "" NA18570 esv2762309 1 24430347 24444667 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7008744 M 1109 0 1 "" SW_1506 nsv469575 1 24452284 24648983 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1676636 M 265 0 1 GRHL3,NIPAL3,STPG1 esv1964436 1 24464970 24465349 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4922131 M 1 0 1 "" NA18507 nsv834447 1 24522170 24677795 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444085 M 95 0 1 GRHL3,NIPAL3,STPG1 esv3426242 1 24534655 24534655 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740957 M 185 1 0 GRHL3 NA19240 esv1739869 1 24544150 24544150 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4074743 M 2 1 0 GRHL3 HuRef esv1745617 1 24544352 24544352 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4185921 M 2 1 0 GRHL3 HuRef esv994910 1 24647483 24651098 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565699 M 3 1 0 NIPAL3 HuRef nsv6965 1 24667583 24687729 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1967 M 9 0 1 NIPAL3 NA18555 nsv545805 1 24670970 24679601 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711520,nssv711522,nssv711521 M 17421 0 3 NIPAL3 esv23193 1 24676884 24680227 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19100,esv9733 M 40 0 4 "" NA11931,NA11993,NA12489,NA12749 nsv498665 1 24677123 24680037 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585415 M 9 0 1 "" dgv197n54 1 24677881 24679420 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545810,nsv545806,nsv545811,nsv545807,nsv545814 M 17421 0 5 "" dgv198n54 1 24677881 24679773 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545813,nsv545812,nsv545809,nsv545808,nsv545815 M 17421 0 117 "" nsv822109 1 24678281 24679447 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431800 M 31 0 1 "" AK20 dgv31n67 1 24678281 24680509 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822131,nsv822120 M 31 0 6 "" AK16,NA18537,NA18547,NA18582,NA18949,NA18969 dgv199n54 1 24678477 24679773 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545816,nsv545818,nsv545820,nsv545822,nsv545817,nsv545819,nsv545821 M 17421 0 18 "" nsv513983 1 24678480 24679292 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2857348,nssv2857330,nssv2857400,nssv2857374,nssv2857353,nssv2857337,nssv2857357,nssv2857351,nssv2857407,nssv2857418,nssv2857414,nssv2857391,nssv2857356,nssv2857371,nssv2857389,nssv2857358,nssv2857349,nssv2857338,nssv2857367,nssv2857350,nssv2857362,nssv2857345,nssv2857332,nssv2857368,nssv2857381,nssv2857401,nssv2857408,nssv2857398,nssv2857340,nssv2857412,nssv2857392,nssv2857383,nssv2857376,nssv2857373,nssv2857369,nssv2857385,nssv2857327,nssv2857343,nssv2857390,nssv2857336,nssv2857399,nssv2857355,nssv2857404,nssv2857352,nssv2857334,nssv2857360,nssv2857339,nssv2857405,nssv2857364,nssv2857359,nssv2857370,nssv2857333,nssv2857417,nssv2857331,nssv2857397,nssv2857403,nssv2857363,nssv2857411,nssv2857410,nssv2857394,nssv2857378,nssv2857372,nssv2857379,nssv2857415,nssv2857388,nssv2857413,nssv2857393,nssv2857344,nssv2857366,nssv2857377,nssv2857402,nssv2857395,nssv2857346,nssv2857382,nssv2857354,nssv2857375,nssv2857387,nssv2857329,nssv2857380,nssv2857328,nssv2857386,nssv2857384,nssv2857409,nssv2857406,nssv2857347,nssv2857361,nssv2857396,nssv2857365,nssv2857326,nssv2857335,nssv2857341,nssv2857342,nssv2857416 M 2366 0 93 "" NA06984,NA07349,NA10837,NA10850,NA10857,NA10860,NA11830,NA11840,NA11893,NA11993,NA12043,NA12272,NA12344,NA12348,NA12375,NA12383,NA12399,NA12489,NA12708,NA12718,NA12748,NA12749,NA12753,NA12763,NA12829,NA12832,NA12842,NA12877,NA12890,NA18486,NA18497,NA18510,NA18537,NA18547,NA18555,NA18558,NA18576,NA18582,NA18633,NA18859,NA18860,NA18868,NA18874,NA18910,NA18911,NA18917,NA18924,NA18949,NA18956,NA18960,NA18961,NA18969,NA18980,NA18981,NA18992,NA18995,NA19000,NA19092,NA19096,NA19097,NA19098,NA19101,NA19117,NA19149,NA19151,NA19152,NA19153,NA19154,NA19160,NA19179,NA19184,NA19185,NA19189,NA19191,NA19193,NA19197,NA19200,NA19201,NA19202,NA19205,NA19209,NA19210,NA19211,NA19225,NA19247,NA19249,NA21391,NA21399,NA21476,NA21514,NA21525,NA21581,NA21583 esv1298380 1 24694156 24694156 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3759955 M 2 1 0 "" HuRef nsv472981 1 24722274 24722274 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020463 M 9 1 0 RCAN3 NA19129 nsv545823 1 24767584 24820535 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711663 M 17421 1 0 NCMAP nsv436645 1 24768045 24774830 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465929 M 2 0 1 NCMAP NA18505 esv27046 1 24768383 24773731 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13814 M 40 0 3 NCMAP NA18505,NA18508,NA18511 nsv834458 1 24776906 24868722 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444096 M 95 0 1 NCMAP,SRRM1 esv1961948 1 24801192 24801860 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4674738 M 1 0 1 NCMAP NA18507 nsv473361 1 24812961 24812961 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012740 M 9 1 0 "" NA19129 esv2560351 1 24813235 24814028 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5277621 M 1 1 0 "" NA18507 nsv160922 1 24831331 24839597 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179500 M 24 "" nsv947416 1 24857129 24863556 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2766073 M 97 1 0 SRRM1 HGDP00998 nsv460862 1 24859464 24912454 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537354 M 1557 0 1 SRRM1 HGDP00974 nsv545824 1 24859464 24912454 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173800 M 17421 0 1 SRRM1 HGDP00974 nsv945828 1 24871388 24872155 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766138,nssv1766124,nssv1766079,nssv1766113,nssv1766075,nssv1766149,nssv1766074,nssv1766129,nssv1766145,nssv1766099,nssv1766085,nssv1766096,nssv1766073,nssv1766126,nssv1766077,nssv1766116,nssv1766065,nssv1766061,nssv1766072,nssv1766137,nssv1766068,nssv1766101,nssv1766142,nssv1766127,nssv1766063,nssv1766135,nssv1766081,nssv1766130,nssv1766144,nssv1766148,nssv1766140,nssv1766156,nssv1766141,nssv1766108,nssv1766078,nssv1766093,nssv1766139,nssv1766125,nssv1766066,nssv1766107,nssv1766067,nssv1766150,nssv1766147,nssv1766084,nssv1766146,nssv1766118,nssv1766064,nssv1766132,nssv1766083,nssv1766117,nssv1766082,nssv1766091,nssv1766070,nssv1766110,nssv1766092,nssv1766123,nssv1766076,nssv1766104,nssv1766080,nssv1766154,nssv1766071,nssv1766095,nssv1766089,nssv1766109,nssv1766143,nssv1766151,nssv1766062,nssv1766098,nssv1766069,nssv1766131,nssv1766090,nssv1766111,nssv1766121,nssv1766088,nssv1766128,nssv1766086,nssv1766119,nssv1766122,nssv1766114,nssv1766153,nssv1766136,nssv1766120,nssv1766103,nssv1766100,nssv1766097,nssv1766102,nssv1766087,nssv1766115,nssv1766094,nssv1766152,nssv1766112,nssv1766157,nssv1766134,nssv1766133,nssv1766155,nssv1766106,nssv1766105 M 97 10 0 SRRM1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv522437 1 24953109 25059303 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv705795 M 2026 1 0 CLIC4 nsv1002864 1 24962097 24995327 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465288 M 29084 0 1 CLIC4 nsv1014245 1 24983491 25042598 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3476665 M 29084 1 0 CLIC4 nsv7076 1 24988905 25069215 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv973,nssv3984,nssv1983 M 9 0 3 CLIC4 NA12878,NA18555,NA19240 esv2525447 1 25030307 25034340 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5183045 M 1 0 1 CLIC4 NA18507 esv7429 1 25031013 25034311 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29870 M 1 0 0 CLIC4 esv2082154 1 25031077 25034306 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4974766 M 1 0 1 CLIC4 NA18507 nsv511684 1 25031132 25034328 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626323 M 1 0 1 CLIC4 1 esv3809 1 25031257 25034166 CNV loss Wang_et_al_2008 18987735 Sequencing essv26250 M 1 0 1 CLIC4 YH nsv498666 1 25031274 25034113 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585426 M 9 0 1 CLIC4 esv995974 1 25031277 25034098 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571583 M 3 0 1 CLIC4 HuRef esv1446144 1 25031290 25034112 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3781063 M 2 0 1 CLIC4 HuRef esv995045 1 25031290 25037077 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564027 M 3 0 1 CLIC4 HuRef nsv160319 1 25031291 25034112 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178897 M 24 CLIC4 nsv945829 1 25042197 25043299 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766159,nssv1766249,nssv1766173,nssv1766214,nssv1766167,nssv1766200,nssv1766170,nssv1766230,nssv1766236,nssv1766254,nssv1766176,nssv1766202,nssv1766165,nssv1766252,nssv1766160,nssv1766212,nssv1766162,nssv1766210,nssv1766239,nssv1766223,nssv1766174,nssv1766232,nssv1766242,nssv1766226,nssv1766241,nssv1766246,nssv1766175,nssv1766253,nssv1766237,nssv1766224,nssv1766163,nssv1766158,nssv1766187,nssv1766209,nssv1766244,nssv1766193,nssv1766161,nssv1766198,nssv1766164,nssv1766205,nssv1766189,nssv1766231,nssv1766235,nssv1766191,nssv1766178,nssv1766247,nssv1766179,nssv1766181,nssv1766182,nssv1766185,nssv1766180,nssv1766196,nssv1766169,nssv1766213,nssv1766238,nssv1766234,nssv1766177,nssv1766227,nssv1766168,nssv1766248,nssv1766243,nssv1766204,nssv1766171,nssv1766195,nssv1766166,nssv1766184,nssv1766186,nssv1766203,nssv1766240,nssv1766245,nssv1766172,nssv1766220,nssv1766207,nssv1766192,nssv1766201,nssv1766229,nssv1766183,nssv1766216,nssv1766218,nssv1766211,nssv1766219,nssv1766225,nssv1766250,nssv1766215,nssv1766233,nssv1766206,nssv1766251,nssv1766222,nssv1766197,nssv1766199,nssv1766190,nssv1766228,nssv1766217,nssv1766208,nssv1766221,nssv1766194,nssv1766188 M 97 10 0 CLIC4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv26140 1 25074420 25076013 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10325 M 40 0 3 "" NA18909,NA19099,NA19240 nsv508581 1 25083566 25167306 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622760 M 4 0 1 MIR6731,RUNX3 NA18994 dgv132n100 1 25180259 25592186 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000112,nsv1005598,nsv1010673 M 29084 4 0 C1orf63,RHCE,RHD,SYF2,TMEM50A esv3390012 1 25212052 25212950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692243 M 185 1 0 "" NA19239 esv3416321 1 25234652 25236350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692244 M 185 1 0 "" NA19240 esv3412285 1 25237452 25239550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692245 M 185 1 0 "" NA19239 nsv526082 1 25282194 25292029 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702326 M 2026 0 1 "" nsv471772 1 25283474 25283645 CNV loss Hinds_et_al_2006 16327809 Oligo aCGH,PCR nssv646053 M 95 "" esv2758928 1 25318097 25336438 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756839 M 270 0 1 "" NA18524 nsv945830 1 25319848 25324366 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766520,nssv1766554,nssv1766585,nssv1766571,nssv1766256,nssv1766561,nssv1766588,nssv1766601,nssv1766259,nssv1766549,nssv1766525,nssv1766544,nssv1766527,nssv1766542,nssv1766261,nssv1766578,nssv1766529,nssv1766543,nssv1766584,nssv1766555,nssv1766521,nssv1766530,nssv1766263,nssv1766559,nssv1766523,nssv1766566,nssv1766590,nssv1766551,nssv1766524,nssv1766574,nssv1766262,nssv1766583,nssv1766522,nssv1766565,nssv1766535,nssv1766547,nssv1766260,nssv1766545,nssv1766592,nssv1766596,nssv1766591,nssv1766560,nssv1766531,nssv1766603,nssv1766257,nssv1766570,nssv1766586,nssv1766597,nssv1766516,nssv1766556,nssv1766528,nssv1766577,nssv1766519,nssv1766569,nssv1766589,nssv1766563,nssv1766517,nssv1766539,nssv1766526,nssv1766602,nssv1766536,nssv1766595,nssv1766518,nssv1766568,nssv1766538,nssv1766567,nssv1766258,nssv1766537,nssv1766587,nssv1766553,nssv1766593,nssv1766582,nssv1766580,nssv1766552,nssv1766255,nssv1766579,nssv1766532,nssv1766573,nssv1766564,nssv1766546,nssv1766540,nssv1766548,nssv1766541,nssv1766598,nssv1766562,nssv1766599,nssv1766550,nssv1766576,nssv1766572,nssv1766594,nssv1766557,nssv1766534,nssv1766581,nssv1766600,nssv1766558,nssv1766575,nssv1766533 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv523480 1 25332019 25333235 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699245 M 2026 0 1 "" nsv818112 1 25392210 25398468 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417310 M 112 0 1 "" NA18608 nsv7187 1 25396205 25428584 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6432 M 9 1 0 SYF2 NA12156 dgv133n100 1 25427096 25560863 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001418,nsv1000586,nsv999277,nsv997585,nsv997459,nsv998928,nsv1003875,nsv1013100,nsv1011274,nsv1007012,nsv1009563,nsv1014746,nsv1008533,nsv997277,nsv1006609 M 29084 15 0 C1orf63,RHD,SYF2,TMEM50A nsv475560 1 25430187 25430187 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015177 M 9 1 0 SYF2 NA19240 dgv134n100 1 25431147 25519561 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999496,nsv1003163,nsv998556,nsv1010825,nsv1006870,nsv1006754,nsv1005659 M 29084 37 0 C1orf63,RHD,SYF2 dgv135n100 1 25443417 25501206 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014835,nsv1007623,nsv998391,nsv1004078 M 29084 6 0 C1orf63,RHD nsv7298 1 25443655 25544725 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3995,nssv6442,nssv10899,nssv9806 M 9 0 4 C1orf63,RHD,TMEM50A NA12156,NA12878,NA15510,NA18507 nsv232 1 25445605 25544725 CNV deletion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv232 M 1 0 1 C1orf63,RHD,TMEM50A NA15510 nsv545825 1 25446109 25519520 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711664 M 17421 0 1 C1orf63,RHD dgv136n100 1 25447046 25535885 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003885,nsv1007231,nsv1011672,nsv1014241,nsv1011605 M 29084 0 5 RHD nsv834469 1 25454993 25635122 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1444229,nssv1444129,nssv1444140,nssv1444207,nssv1444107,nssv1444162,nssv1444118,nssv1444173,nssv1444240,nssv1444196,nssv1444151,nssv1444218,nssv1444185 M 95 2 11 RHCE,RHD,TMEM50A,TMEM57 dgv137n100 1 25455204 25550964 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008056,nsv1007615,nsv1012311,nsv1014586,nsv1006789,nsv1005580,nsv1004985,nsv1011077,nsv1009034,nsv1000921 M 29084 226 614 RHD,TMEM50A esv2762632 1 25455216 25589952 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7020632,essv7019521,essv7012743,essv7015744,essv7019744,essv7009521,essv7016633,essv7012299,essv7020521,essv7016744,essv7021632,essv7012077,essv7015300,essv7012410,essv7020410,essv7015522,essv7009633,essv7016411,essv7009855,essv7008966,essv7016300,essv7018299,essv7021410,essv7013744,essv7013411,essv7017966,essv7010966,essv7018966,essv7018077,essv7020299,essv7017633,essv7017299,essv7018744,essv7017077,essv7013966,essv7020966,essv7015189,essv7016188,essv7009744,essv7013078,essv7021188,essv7009188,essv7018522,essv7014855,essv7014300,essv7020188,essv7009966,essv7010188,essv7009077,essv7011855,essv7014189,essv7019188,essv7021855,essv7014966,essv7019077,essv7011077,essv7021743,essv7021077,essv7010855,essv7016077,essv7012854,essv7011188,essv7011521,essv7019299,essv7018855,essv7014633,essv7013855,essv7021966,essv7013633,essv7014744,essv7022188,essv7016966,essv7015855,essv7018633,essv7013189,essv7021521,essv7017744,essv7008855,essv7011410,essv7019410,essv7019855,essv7012967,essv7009299,essv7011966,essv7014078,essv7015966,essv7010410,essv7015077,essv7015633,essv7020077,essv7017855,essv7019633,essv7017188,essv7010521,essv7020744,essv7022077,essv7010077,essv7015411,essv7019966,essv7016855,essv7013300,essv7017411,essv7012188,essv7011743,essv7022299,essv7016522,essv7011299,essv7010744,essv7010632,essv7011632,essv7018188,essv7020855,essv7014411,essv7012521,essv7013522,essv7021299,essv7017522,essv7009410,essv7018410,essv7014522,essv7010299,essv7012632 M 1109 5 93 RHCE,RHD,TMEM50A SW_0007,SW_0016,SW_0017,SW_0030,SW_0047,SW_0049,SW_0086,SW_0091,SW_0113,SW_0143,SW_0144,SW_0146,SW_0165,SW_0184,SW_0187,SW_0203,SW_0216,SW_0227,SW_0230,SW_0241,SW_0255,SW_0268,SW_0286,SW_0340,SW_0351,SW_0353,SW_0554,SW_0593,SW_0619,SW_0635,SW_0716,SW_0717,SW_0762,SW_0803,SW_0805,SW_0814,SW_0828,SW_0832,SW_0847,SW_0860,SW_0871,SW_0873,SW_0890,SW_1034,SW_1039,SW_1044,SW_1049,SW_1053,SW_1077,SW_1080,SW_1085,SW_1092,SW_1093,SW_1095,SW_1106,SW_1111,SW_1122,SW_1152,SW_1166,SW_1170,SW_1171,SW_1182,SW_1188,SW_1199,SW_1211,SW_1215,SW_1225,SW_1235,SW_1249,SW_1254,SW_1258,SW_1261,SW_1267,SW_1276,SW_1283,SW_1295,SW_1299,SW_1308,SW_1313,SW_1318,SW_1330,SW_1333,SW_1337,SW_1364,SW_1374,SW_1389,SW_1392,SW_1393,SW_1396,SW_1407,SW_1431,SW_1441,SW_1448,SW_1470,SW_1503,SW_1506,SW_1535,SW_1570 dgv138n100 1 25455418 25519561 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010467,nsv1008344,nsv1007934,nsv1011563,nsv1009320,nsv1011287,nsv1006617 M 29084 406 690 RHD nsv9768 1 25455902 25640203 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv12770,nssv15764,nssv16094,nssv18443,nssv13100,nssv13743,nssv14745,nssv13413,nssv14751,nssv15102,nssv14101,nssv14742,nssv14749,nssv15433,nssv29252,nssv13083,nssv15434,nssv16744,nssv16428,nssv13771,nssv14417,nssv15450,nssv14747,nssv13086,nssv12115,nssv12776,nssv15105,nssv13438,nssv15763,nssv13108,nssv13106,nssv17074,nssv12772,nssv15111,nssv13418,nssv13764,nssv17404,nssv13416,nssv13434,nssv13088,nssv15435 M 31 21 1 RHCE,RHD,TMEM50A,TMEM57 NA07048,NA10839,NA10847,NA10863,NA12155,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19221,NA19240 nsv822143 1 25457603 25537973 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1433413,nssv1422364,nssv1430337 M 31 0 3 RHD,TMEM50A AK16,NA18526,NA18552 nsv821372 1 25457603 25538019 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420280 M 1 0 1 RHD,TMEM50A NA10851 esv22615 1 25457812 25537782 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv19712,esv17091 M 40 24 6 RHD,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv32921 1 25457932 25537445 CNV gain+loss de_Smith_et_al_2007 17666407 Oligo aCGH essv101732,essv100169,essv96835,essv95026,essv101286,essv93733 M 51 3 3 RHD,TMEM50A 21659,21805,21909,21972,22231,22286 dgv3e180 1 25458023 25537400 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array esv1009924,esv990723 M 3 1 0 RHD,TMEM50A HuRef nsv945831 1 25459108 25492538 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766613,nssv1766637,nssv1764635,nssv1764607,nssv1766622,nssv1766634,nssv1766635,nssv1764616,nssv1766632,nssv1764597,nssv1766614,nssv1764599,nssv1766606,nssv1764606,nssv1766624,nssv1764610,nssv1766608,nssv1764609,nssv1766605,nssv1766638,nssv1764634,nssv1764618,nssv1766626,nssv1766630,nssv1766620,nssv1764615,nssv1766621,nssv1764628,nssv1766612,nssv1764614,nssv1766609,nssv1766631,nssv1764638,nssv1764604,nssv1766611,nssv1766627,nssv1766619,nssv1764596,nssv1766633,nssv1764603,nssv1764632,nssv1764612,nssv1766618,nssv1764600,nssv1766617,nssv1764619,nssv1766607,nssv1764622,nssv1766628,nssv1766604,nssv1766625,nssv1764623,nssv1764637,nssv1764598,nssv1766615,nssv1764613,nssv1764630,nssv1764625,nssv1764631,nssv1764602,nssv1764633,nssv1764617,nssv1766623,nssv1764620,nssv1764629,nssv1764605,nssv1766616,nssv1764595,nssv1764636,nssv1764624,nssv1766610,nssv1764608,nssv1764601,nssv1764594,nssv1766629,nssv1766636,nssv1764627,nssv1764611,nssv1764621,nssv1764626 M 97 10 0 RHD HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv200n54 1 25461733 25499919 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545833,nsv545830,nsv545826 M 17421 0 11 RHD esv2421857 1 25461733 25534799 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5140020,essv5047101,essv5139792,essv5067157,essv5137308,essv5010857,essv5013628,essv5056082,essv5082163,essv5113984,essv5146020,essv5067947,essv5024116,essv5058769,essv5023035,essv5109647,essv5113628,essv5097823,essv5105392,essv5033550,essv5087709,essv5112124,essv5128978,essv5042292,essv5141369,essv5091094,essv5041714,essv5131302,essv5105085,essv5047169,essv5118360,essv5026235,essv5079054,essv5025602,essv5129683,essv5058514,essv5017260,essv5059195,essv5014447,essv5123095,essv5017327,essv5158031,essv5022144,essv5065634,essv5113423,essv5136938,essv5145360,essv5124630,essv5085338,essv5108701,essv5009799,essv5082883,essv5096259,essv5111192,essv5092242,essv5087858,essv5160623,essv5095663,essv5012855,essv5024213,essv5130239,essv5128183,essv5135218,essv5079399,essv5122788,essv5098695,essv5056058,essv5117026,essv5122992,essv5128808,essv5078911,essv5057653,essv5050184,essv5060529,essv5057948,essv5040904,essv5066801,essv5138781,essv5017143,essv5032861,essv5026739,essv5073133,essv5096398,essv5037674,essv5085137,essv5082929,essv5023178,essv5015901,essv5140307,essv5015825,essv5048597,essv5016506,essv5151593,essv5159485,essv5059333,essv5157994,essv5054376,essv5147815,essv5038039,essv5120048,essv5105430,essv5030807,essv5088120,essv5054446,essv5116864,essv5008097,essv5155256,essv5152554,essv5035986,essv5138177,essv5150897,essv5009261,essv5002879,essv5072538,essv5114255,essv5091674,essv5156244,essv5034340,essv5046028,essv5003958,essv5051480,essv5046501,essv5120740,essv5025505,essv5076833,essv5073065,essv5064696,essv5151146,essv5099229,essv5081685,essv5025268,essv5078460,essv5090060,essv5133792,essv5014373,essv5078218,essv5133133,essv5143932,essv5058251,essv5093377,essv5090256,essv5121794,essv5024154,essv5040974,essv5065734,essv5108066,essv5113393,essv5124283,essv5130187,essv5089045,essv5018977,essv5053175,essv5076093,essv5089551,essv5045154,essv5147945,essv5007583,essv5049893,essv5118643,essv5147588,essv5018506,essv5158872,essv5034606,essv5021910,essv5036702,essv5055335,essv5012416,essv5156202,essv5114671,essv5136889,essv5080281,essv5116093,essv5032508,essv5017565,essv5064492,essv5068330,essv5053235,essv5142370,essv5043793,essv5149063,essv5152069,essv5026565,essv5133094,essv5157836,essv5053389,essv5025216,essv5029065,essv5107616,essv5070008,essv5078382,essv5099909,essv5118896,essv5025353,essv5158896,essv5047974,essv5142656,essv5050776,essv5134977,essv5133677,essv5033012,essv5146558,essv5130660,essv5123139,essv5150816,essv5010813,essv5044859,essv5137751,essv5011384,essv5124430,essv5108756,essv5091441,essv5088003,essv5004232,essv5125283,essv5021447,essv5016090,essv5082433,essv5055292,essv5125910,essv5053567,essv5044887,essv5069190,essv5004352,essv5151764,essv5057263,essv5094025,essv5064974,essv5080406,essv5147235,essv5137440,essv5056633,essv5003442,essv5008817,essv5129477,essv5009382,essv5017876,essv5029243,essv5136383,essv5080467,essv5109954,essv5039265,essv5128345,essv5158850,essv5128108,essv5030906,essv5128172,essv5056096,essv5115319,essv5069482,essv5005217,essv5007440,essv5035013,essv5147272,essv5075759,essv5048844,essv5152295,essv5091462,essv5065928,essv5065371,essv5113590,essv5109110,essv5094386,essv5124582,essv5020838,essv5094802,essv5023208,essv5033778,essv5138232,essv5020784,essv5153011,essv5154775,essv5147839,essv5153623,essv5155647,essv5058796,essv5028311,essv5003366,essv5007672,essv5125039,essv5059401,essv5037110,essv5079981,essv5028365,essv5004315,essv5157141,essv5095554,essv5014537,essv5016370,essv5150619,essv5132115,essv5118565,essv5131476,essv5037893,essv5042185,essv5047152,essv5028430,essv5022476,essv5016991,essv5144277,essv5116136,essv5027267,essv5076799,essv5087504,essv5008221,essv5094217,essv5145070,essv5058426,essv5055329,essv5088678,essv5135986,essv5059029,essv5151355,essv5153490,essv5033915,essv5145980,essv5143595,essv5089622,essv5062085,essv5076452,essv5070189,essv5050338,essv5149523,essv5111735,essv5065254,essv5024612,essv5116489,essv5113903,essv5033407,essv5063196,essv5106367,essv5080950,essv5022767,essv5009459,essv5045453,essv5141412,essv5003226,essv5089478,essv5059254,essv5158180,essv5142111,essv5157677,essv5088421,essv5033301,essv5077667,essv5115091,essv5106070,essv5037688,essv5135855,essv5139596,essv5044349,essv5132018,essv5083652,essv5016021,essv5083463,essv5134935,essv5037645,essv5049421,essv5105366,essv5063006,essv5122105,essv5002344,essv5111829,essv5014510,essv5003234,essv5109869,essv5141824,essv5097618,essv5145086,essv5152955,essv5080575,essv5106123,essv5073403,essv5010391,essv5130404,essv5058217,essv5130611,essv5066634,essv5039765,essv5148164,essv5127709,essv5047250,essv5110081,essv5159704,essv5125105,essv5018521,essv5133513,essv5079059,essv5135973,essv5157623,essv5122226,essv5002183,essv5134564,essv5039122,essv5007066,essv5119807,essv5143138,essv5066670,essv5046014,essv5012871,essv5003311,essv5130740,essv5124398,essv5002155,essv5158951,essv5121511,essv5108293,essv5054650,essv5046481,essv5067460,essv5055624,essv5154564,essv5142820,essv5130794,essv5068241,essv5034343,essv5024098,essv5048811,essv5047766,essv5116211 M 1184 0 419 RHD NA06984,NA06985,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07056,NA07346,NA07349,NA07357,NA10830,NA10831,NA10835,NA10837,NA10838,NA10839,NA10843,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11882,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12154,NA12156,NA12234,NA12248,NA12272,NA12273,NA12282,NA12283,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12740,NA12751,NA12752,NA12753,NA12761,NA12763,NA12766,NA12775,NA12776,NA12802,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12878,NA12890,NA12891,NA17980,NA17993,NA18102,NA18122,NA18154,NA18157,NA18159,NA18484,NA18488,NA18497,NA18507,NA18515,NA18516,NA18518,NA18519,NA18520,NA18526,NA18546,NA18552,NA18571,NA18599,NA18609,NA18613,NA18614,NA18615,NA18620,NA18631,NA18636,NA18640,NA18704,NA18855,NA18861,NA18863,NA18867,NA18869,NA18871,NA18872,NA18940,NA18946,NA18955,NA18960,NA18964,NA18994,NA19001,NA19054,NA19066,NA19075,NA19078,NA19079,NA19094,NA19095,NA19102,NA19107,NA19109,NA19117,NA19118,NA19122,NA19131,NA19132,NA19140,NA19141,NA19143,NA19146,NA19154,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19181,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19206,NA19209,NA19211,NA19214,NA19221,NA19222,NA19236,NA19237,NA19309,NA19317,NA19327,NA19350,NA19375,NA19379,NA19380,NA19382,NA19435,NA19448,NA19474,NA19649,NA19650,NA19652,NA19653,NA19654,NA19658,NA19659,NA19661,NA19662,NA19678,NA19680,NA19684,NA19685,NA19686,NA19700,NA19703,NA19716,NA19746,NA19749,NA19751,NA19773,NA19776,NA19778,NA19782,NA19784,NA19794,NA19819,NA19828,NA19900,NA19901,NA20276,NA20277,NA20279,NA20284,NA20287,NA20288,NA20289,NA20290,NA20297,NA20317,NA20319,NA20332,NA20333,NA20334,NA20335,NA20336,NA20342,NA20343,NA20344,NA20345,NA20349,NA20350,NA20356,NA20360,NA20363,NA20504,NA20505,NA20506,NA20509,NA20512,NA20516,NA20518,NA20519,NA20522,NA20524,NA20528,NA20529,NA20530,NA20534,NA20538,NA20539,NA20540,NA20541,NA20543,NA20586,NA20589,NA20752,NA20754,NA20755,NA20756,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20770,NA20771,NA20773,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20792,NA20796,NA20797,NA20801,NA20807,NA20808,NA20809,NA20811,NA20813,NA20819,NA20826,NA20846,NA20847,NA20849,NA20851,NA20852,NA20854,NA20858,NA20859,NA20861,NA20870,NA20871,NA20873,NA20875,NA20879,NA20882,NA20884,NA20885,NA20888,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20899,NA20900,NA20902,NA20904,NA20908,NA20911,NA21089,NA21090,NA21091,NA21092,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21113,NA21115,NA21117,NA21118,NA21123,NA21137,NA21141,NA21143,NA21144,NA21295,NA21301,NA21302,NA21303,NA21333,NA21339,NA21353,NA21356,NA21359,NA21367,NA21371,NA21381,NA21385,NA21386,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21423,NA21424,NA21434,NA21435,NA21436,NA21441,NA21473,NA21475,NA21478,NA21480,NA21488,NA21489,NA21490,NA21524,NA21574,NA21575,NA21583,NA21599,NA21600,NA21601,NA21631,NA21635,NA21636,NA21647,NA21648,NA21678,NA21717,NA21718,NA21738,NA21740,NA21825 dgv201n54 1 25461733 25538558 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545828,nsv545839,nsv545842,nsv545841,nsv545840,nsv545827,nsv545831,nsv545838 M 17421 0 44 RHD,TMEM50A nsv433185 1 25462210 25537253 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463066 M 9 0 1 RHD NA12156 nsv820028 1 25463365 25536785 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418757 M 2 1 0 RHD AK1 nsv498667 1 25463557 25535542 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585437 M 9 0 1 RHD nsv7174 1 25464374 25590811 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9262,nssv9251 M 9 0 0 RHCE,RHD,TMEM50A NA18517 nsv513984 1 25465250 25536194 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2856896,nssv2857043,nssv2856926,nssv2857070,nssv2858431,nssv2856911,nssv2858441,nssv2858438,nssv2855851,nssv2856924,nssv2857057,nssv2855821,nssv2858380,nssv2857009,nssv2858448,nssv2857025,nssv2857079,nssv2856956,nssv2855829,nssv2857010,nssv2856931,nssv2858486,nssv2856897,nssv2856990,nssv2858401,nssv2857005,nssv2856968,nssv2858483,nssv2856953,nssv2856892,nssv2857042,nssv2857008,nssv2856895,nssv2857077,nssv2858445,nssv2857018,nssv2855782,nssv2855830,nssv2858470,nssv2857004,nssv2858473,nssv2857083,nssv2858407,nssv2855790,nssv2857031,nssv2856998,nssv2857030,nssv2855774,nssv2858396,nssv2858389,nssv2857073,nssv2856957,nssv2856929,nssv2858374,nssv2856905,nssv2857013,nssv2855873,nssv2857097,nssv2858405,nssv2857035,nssv2858485,nssv2858474,nssv2855825,nssv2855789,nssv2856888,nssv2856942,nssv2857040,nssv2857076,nssv2856961,nssv2857045,nssv2857099,nssv2856988,nssv2858481,nssv2858369,nssv2856944,nssv2855857,nssv2855815,nssv2858468,nssv2858419,nssv2855841,nssv2855846,nssv2857019,nssv2858364,nssv2856979,nssv2855775,nssv2858465,nssv2856894,nssv2858427,nssv2855791,nssv2856950,nssv2858429,nssv2857037,nssv2858469,nssv2857002,nssv2855835,nssv2856962,nssv2858409,nssv2855827,nssv2856982,nssv2856887,nssv2858494,nssv2856904,nssv2855854,nssv2855817,nssv2856912,nssv2858368,nssv2855861,nssv2858392,nssv2857067,nssv2855812,nssv2857029,nssv2857090,nssv2858367,nssv2857074,nssv2856993,nssv2856994,nssv2856971,nssv2858493,nssv2858406,nssv2858454,nssv2855798,nssv2856986,nssv2858370,nssv2858379,nssv2857006,nssv2858457,nssv2857021,nssv2856941,nssv2858408,nssv2855849,nssv2855867,nssv2858410,nssv2855868,nssv2857098,nssv2855853,nssv2857026,nssv2857034,nssv2855839,nssv2858373,nssv2855871,nssv2858390,nssv2856891,nssv2858371,nssv2855819,nssv2856919,nssv2858415,nssv2858403,nssv2856893,nssv2858456,nssv2857085,nssv2858399,nssv2856996,nssv2856987,nssv2856940,nssv2855777,nssv2856898,nssv2856901,nssv2858426,nssv2856884,nssv2858402,nssv2858477,nssv2855840,nssv2858480,nssv2855860,nssv2856969,nssv2855866,nssv2858461,nssv2856906,nssv2856948,nssv2855852,nssv2857036,nssv2858471,nssv2858459,nssv2857051,nssv2856967,nssv2856925,nssv2857028,nssv2855810,nssv2857088,nssv2855823,nssv2855773,nssv2858466,nssv2855865,nssv2858422,nssv2856921,nssv2855785,nssv2857093,nssv2855778,nssv2856965,nssv2856903,nssv2856936,nssv2856992,nssv2858440,nssv2858423,nssv2857046,nssv2855864,nssv2855811,nssv2857050,nssv2858388,nssv2856907,nssv2857086,nssv2856976,nssv2858451,nssv2858432,nssv2857062,nssv2857058,nssv2858450,nssv2857017,nssv2857082,nssv2856997,nssv2857084,nssv2856918,nssv2855805,nssv2857023,nssv2855844,nssv2856952,nssv2858443,nssv2857080,nssv2858382,nssv2856939,nssv2857012,nssv2856978,nssv2858444,nssv2855832,nssv2857089,nssv2856934,nssv2855780,nssv2855824,nssv2856882,nssv2857069,nssv2857063,nssv2858376,nssv2856910,nssv2858421,nssv2855802,nssv2856890,nssv2856908,nssv2856886,nssv2855786,nssv2857022,nssv2856973,nssv2858482,nssv2855807,nssv2856951,nssv2856932,nssv2855872,nssv2855801,nssv2855783,nssv2858442,nssv2855781,nssv2856972,nssv2858488,nssv2857016,nssv2857020,nssv2858433,nssv2856954,nssv2856935,nssv2856938,nssv2858425,nssv2855784,nssv2858384,nssv2856960,nssv2856914,nssv2857047,nssv2858377,nssv2858463,nssv2856983,nssv2857044,nssv2855788,nssv2855833,nssv2856889,nssv2857092,nssv2855843,nssv2855845,nssv2855809,nssv2855779,nssv2855793,nssv2855863,nssv2858447,nssv2855816,nssv2857024,nssv2857053,nssv2858453,nssv2855834,nssv2856970,nssv2855836,nssv2858437,nssv2855826,nssv2855796,nssv2858455,nssv2855787,nssv2858434,nssv2857056,nssv2857091,nssv2856880,nssv2855855,nssv2855828,nssv2858452,nssv2857052,nssv2856915,nssv2858395,nssv2858478,nssv2857049,nssv2858391,nssv2858458,nssv2858424,nssv2857003,nssv2856991,nssv2858472,nssv2856955,nssv2858394,nssv2858436,nssv2858404,nssv2857094,nssv2856981,nssv2855859,nssv2857007,nssv2856922,nssv2858475,nssv2857066,nssv2858381,nssv2858484,nssv2856985,nssv2856943,nssv2856902,nssv2855814,nssv2856975,nssv2858428,nssv2858492,nssv2856989,nssv2858387,nssv2858375,nssv2857038,nssv2858491,nssv2856977,nssv2856974,nssv2858449,nssv2857048,nssv2858414,nssv2856964,nssv2858378,nssv2855794,nssv2858487,nssv2857059,nssv2856980,nssv2856909,nssv2858418,nssv2857011,nssv2858412,nssv2855822,nssv2856966,nssv2858411,nssv2856999,nssv2858420,nssv2857032,nssv2856885,nssv2857014,nssv2857071,nssv2856899,nssv2856927,nssv2857078,nssv2855806,nssv2856913,nssv2856963,nssv2855795,nssv2857072,nssv2857060,nssv2855803,nssv2855792,nssv2856945,nssv2858439,nssv2858386,nssv2856881,nssv2858393,nssv2856947,nssv2856923,nssv2858385,nssv2856928,nssv2855862,nssv2858398,nssv2858413,nssv2856917,nssv2856959,nssv2856995,nssv2857065,nssv2858400,nssv2857095,nssv2855869,nssv2858460,nssv2858479,nssv2855858,nssv2856946,nssv2858416,nssv2858383,nssv2856883,nssv2857068,nssv2856958,nssv2855813,nssv2856916,nssv2858464,nssv2857000,nssv2857081,nssv2858397,nssv2855842,nssv2858435,nssv2857039,nssv2858467,nssv2858372,nssv2857075,nssv2857041,nssv2856920,nssv2858446,nssv2857054,nssv2855776,nssv2855818,nssv2858489,nssv2856984,nssv2858462,nssv2855808,nssv2858365,nssv2856933,nssv2855856,nssv2855848,nssv2855838,nssv2857001,nssv2855847,nssv2857015,nssv2856937,nssv2856949,nssv2855870,nssv2857096,nssv2858476,nssv2855874,nssv2857061,nssv2857087,nssv2857055,nssv2857064,nssv2858490,nssv2858366,nssv2856930,nssv2857033,nssv2858417,nssv2855797,nssv2855820,nssv2855831,nssv2856900,nssv2858430,nssv2855850,nssv2855804,nssv2857027,nssv2855837,nssv2855799,nssv2855800 M 2366 453 0 RHD NA06985,NA06986,NA06991,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10831,NA10835,NA10836,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11894,NA11917,NA11918,NA11920,NA11930,NA11992,NA11994,NA11995,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12340,NA12341,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12485,NA12489,NA12546,NA12708,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12842,NA12864,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21718 dgv202n54 1 25465670 25492176 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545829,nsv545832 M 17421 0 6 RHD esv3584591 1 25465715 25519533 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9838688 M 34 0 1 RHD KSF024 nsv442830 1 25465715 25534592 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617641,nssv1617716,nssv1617683,nssv1617701,nssv1617699,nssv1617634,nssv1617708,nssv1617642,nssv1617687,nssv1617742,nssv1617674,nssv1617690,nssv1617665,nssv1617645,nssv1617703,nssv1617719,nssv1617712,nssv1617706,nssv1617723,nssv1617726,nssv1617651,nssv1617671,nssv1617729,nssv1617710,nssv1617684,nssv1617737,nssv1617700,nssv1617692,nssv1617696,nssv1617728,nssv1617745,nssv1617681,nssv1617685,nssv1617678,nssv1617744,nssv1617715,nssv1617675,nssv1617718,nssv1617682,nssv1617679,nssv1617644,nssv1617667,nssv1617655,nssv1617664,nssv1617720,nssv1617731,nssv1617663,nssv1617707,nssv1617697,nssv1617714,nssv1617709,nssv1617688,nssv1617694,nssv1617643,nssv1617635,nssv1617653,nssv1617689,nssv1617704,nssv1617670,nssv1617735,nssv1617659,nssv1617673,nssv1617738,nssv1617652,nssv1617739,nssv1617660,nssv1617654,nssv1617727,nssv1617676,nssv1617672,nssv1617656,nssv1617686,nssv1617662,nssv1617639,nssv1617668,nssv1617646,nssv1617649,nssv1617666,nssv1617721,nssv1617730,nssv1617711,nssv1617648,nssv1617640,nssv1617637,nssv1617734,nssv1617638,nssv1617677,nssv1617705,nssv1617698,nssv1617741,nssv1617717,nssv1617693,nssv1617732,nssv1617722,nssv1617695,nssv1617633,nssv1617661,nssv1617657,nssv1617743,nssv1617733,nssv1617650,nssv1617740 M 270 0 102 RHD NA06985,NA06991,NA06993,NA06994,NA07022,NA07029,NA07034,NA07055,NA07056,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10851,NA10854,NA10855,NA10856,NA10859,NA10860,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11882,NA11992,NA11993,NA12003,NA12004,NA12005,NA12006,NA12043,NA12044,NA12056,NA12057,NA12144,NA12145,NA12154,NA12156,NA12234,NA12236,NA12248,NA12707,NA12716,NA12740,NA12751,NA12752,NA12753,NA12761,NA12763,NA12802,NA12815,NA12864,NA12872,NA12873,NA12874,NA12878,NA12891,NA18507,NA18515,NA18516,NA18526,NA18552,NA18571,NA18609,NA18620,NA18636,NA18855,NA18861,NA18863,NA18871,NA18872,NA18940,NA18960,NA18964,NA18994,NA19092,NA19094,NA19102,NA19131,NA19132,NA19140,NA19141,NA19143,NA19154,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19206,NA19209,NA19211,NA19221,NA19222 esv2764200 1 25465715 25535931 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005255,essv7005260,essv7005247,essv7005241,essv7005253,essv7005270,essv7005251,essv7005261,essv7005249,essv7005244,essv7005248,essv7005231,essv7005264,essv7005230,essv7005266,essv7005242,essv7005233,essv7005269,essv7005274,essv7005236,essv7005240,essv7005265,essv7005271,essv7005259,essv7005237,essv7005273,essv7005246,essv7005232,essv7005263,essv7005252,essv7005268,essv7005239,essv7005254,essv7005272,essv7005258,essv7005275,essv7005262,essv7005238,essv7005243,essv7005250,essv7005235,essv7005257 M 1109 6 36 RHD RW_0017,RW_0018,RW_0023,RW_0025,RW_0042,RW_0049,RW_0053,RW_0064,RW_0068,RW_0072,RW_0079,RW_0088,RW_0106,RW_0123,RW_0129,RW_0132,RW_0152,RW_0158,RW_0168,RW_0171,RW_0173,RW_0190,RW_0209,RW_0216,RW_0220,RW_0227,RW_0241,RW_0253,RW_0254,RW_0310,RW_0325,RW_0502,RW_0513,RW_0550,RW_0554,RW_0564,RW_0568,RW_0571,RW_0587,RW_0615,RW_0624,RW_0664 nsv7409 1 25467919 25500774 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4006 M 9 1 0 RHD NA12878 dgv139n100 1 25468522 25519521 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012128,nsv1013309 M 29084 0 22 RHD dgv140n100 1 25468522 25560863 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007888,nsv999016,nsv1011005,nsv1000590,nsv999620,nsv1001739,nsv1007059,nsv1005890,nsv1014567,nsv1000220,nsv1000794,nsv998813 M 29084 31 0 RHD,TMEM50A nsv822154 1 25468568 25538019 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1431065,nssv1429556 M 31 2 0 RHD,TMEM50A AK14,AK18 dgv141n100 1 25468980 25550964 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002585,nsv1005538,nsv1014847,nsv1014951,nsv997527,nsv1009868,nsv1011490,nsv998503 M 29084 0 40 RHD,TMEM50A esv2451224 1 25469238 25531749 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5204513 M 1 0 1 RHD NA18507 dgv203n54 1 25470863 25519520 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545834,nsv545850,nsv545845,nsv545851,nsv545847,nsv545835,nsv545848,nsv545849,nsv545846 M 17421 0 34 RHD dgv204n54 1 25470863 25528125 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545836,nsv545837 M 17421 2 23 RHD nsv545843 1 25470863 25566773 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711770,nssv711769 M 17421 0 2 RHCE,RHD,TMEM50A nsv482212 1 25471568 25529523 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558573 M 1 1 0 RHD KB1 dgv142n100 1 25472880 25535885 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008571,nsv1005511,nsv1004546 M 29084 19 0 RHD nsv545844 1 25475511 25499919 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711771 M 17421 0 1 RHD dgv205n54 1 25478794 25537253 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545855,nsv545856,nsv545852,nsv545857,nsv545858 M 17421 0 7 RHD esv29949 1 25482036 25536138 CNV gain Wheeler_et_al_2008 18421352 Oligo aCGH,Sequencing essv84188 M 3 1 0 RHD WATSON esv3375696 1 25482652 25486850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692246 M 185 1 0 RHD NA12892 dgv206n54 1 25483680 25515183 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545853,nsv545854 M 17421 0 3 RHD esv29997 1 25488723 25521045 CNV gain Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv84236 M 2 1 0 RHD HuRef nsv945832 1 25492538 25493637 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764645,nssv1764665,nssv1764657,nssv1764698,nssv1764722,nssv1764699,nssv1764643,nssv1764700,nssv1764651,nssv1764681,nssv1764720,nssv1764702,nssv1764648,nssv1764706,nssv1764670,nssv1764709,nssv1764667,nssv1764691,nssv1764668,nssv1764707,nssv1764663,nssv1764703,nssv1764656,nssv1764674,nssv1764640,nssv1765655,nssv1764647,nssv1764688,nssv1764646,nssv1765658,nssv1764644,nssv1764673,nssv1764660,nssv1764710,nssv1764649,nssv1764687,nssv1764718,nssv1764714,nssv1764658,nssv1764701,nssv1765649,nssv1764686,nssv1765648,nssv1764662,nssv1764655,nssv1765652,nssv1764717,nssv1764713,nssv1764716,nssv1764690,nssv1764650,nssv1764689,nssv1764721,nssv1764695,nssv1764654,nssv1764639,nssv1764642,nssv1764696,nssv1764653,nssv1764683,nssv1764659,nssv1764677,nssv1764719,nssv1764664,nssv1764661,nssv1765651,nssv1764723,nssv1764671,nssv1764641,nssv1764694,nssv1764652,nssv1764684,nssv1764708,nssv1764679,nssv1765650,nssv1765656,nssv1764693,nssv1765659,nssv1764692,nssv1765653,nssv1764697,nssv1764669,nssv1764711,nssv1764680,nssv1764705,nssv1764682,nssv1764678,nssv1764715,nssv1765657,nssv1764666,nssv1764676,nssv1764712,nssv1765654,nssv1764685,nssv1764675,nssv1764704,nssv1764672 M 97 10 0 RHD HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945833 1 25493637 25537924 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765682,nssv1765728,nssv1765739,nssv1765709,nssv1765661,nssv1765696,nssv1765732,nssv1765725,nssv1765676,nssv1765683,nssv1765669,nssv1765706,nssv1765664,nssv1765718,nssv1765678,nssv1765711,nssv1765672,nssv1765716,nssv1765736,nssv1765727,nssv1765675,nssv1765697,nssv1765737,nssv1765693,nssv1765663,nssv1765701,nssv1765689,nssv1765707,nssv1765677,nssv1765720,nssv1765688,nssv1765685,nssv1765662,nssv1765695,nssv1765733,nssv1765724,nssv1765681,nssv1765699,nssv1765734,nssv1765713,nssv1765735,nssv1765703,nssv1765730,nssv1765722,nssv1765680,nssv1765717,nssv1765667,nssv1765692,nssv1765738,nssv1765710,nssv1765668,nssv1765686,nssv1765691,nssv1765687,nssv1765674,nssv1765719,nssv1765666,nssv1765702,nssv1765679,nssv1765726,nssv1765684,nssv1765712,nssv1765673,nssv1765715,nssv1765665,nssv1765704,nssv1765671,nssv1765700,nssv1765670,nssv1765729,nssv1765731,nssv1765705,nssv1765721,nssv1765723,nssv1765694,nssv1765708,nssv1765690,nssv1765714,nssv1765660,nssv1765698 M 97 10 0 RHD,TMEM50A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv207n54 1 25497633 25519520 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545860,nsv545859 M 17421 0 3 RHD nsv1010001 1 25500660 25558419 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468965 M 29084 1 0 RHD,TMEM50A nsv545861 1 25502225 25519520 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711801 M 17421 1 0 RHD dgv208n54 1 25502225 25532274 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545865,nsv545864,nsv545862 M 17421 0 23 RHD nsv545863 1 25506792 25519520 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711803,nssv711815,nssv711804,nssv711807,nssv711805,nssv711806,nssv711814,nssv711808,nssv711809,nssv711810,nssv711812,nssv711813,nssv711811,nssv711818,nssv711819,nssv711817,nssv711816 M 17421 0 17 RHD dgv209n54 1 25506792 25537386 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545869,nsv545866,nsv545871,nsv545867 M 17421 0 10 RHD,TMEM50A nsv821617 1 25510392 25559491 CNV loss Sebat_et_al_2004 15273396 ROMA nssv1421396,nssv1421385 M 31 0 2 RHD,TMEM50A dgv210n54 1 25510840 25532274 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545868,nsv545870 M 17421 0 3 RHD nsv834480 1 25511185 25641885 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444251 M 95 1 0 RHCE,RHD,TMEM50A,TMEM57 nsv499798 1 25528107 25565790 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nssv585484 M 9 0 0 RHCE,RHD,TMEM50A nsv1009831 1 25535885 25618826 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468788 M 29084 1 0 RHCE,TMEM50A esv996331 1 25561153 25623155 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586287 M 3 1 0 RHCE,TMEM50A HuRef esv28510 1 25561198 25624359 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv21345,esv10711,esv16269 M 40 23 7 RHCE,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv482037 1 25561328 25619950 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558398 M 1 1 0 RHCE,TMEM50A KB1 dgv211n54 1 25561584 25567564 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545872,nsv545873,nsv545874 M 17421 0 10 RHCE nsv945834 1 25561642 25594358 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765755,nssv1765784,nssv1765758,nssv1765740,nssv1765813,nssv1765763,nssv1765756,nssv1765773,nssv1765744,nssv1765805,nssv1765760,nssv1765791,nssv1765812,nssv1765794,nssv1765817,nssv1765785,nssv1765750,nssv1765774,nssv1765751,nssv1765798,nssv1765819,nssv1765803,nssv1765816,nssv1765778,nssv1765769,nssv1765765,nssv1765757,nssv1765770,nssv1765743,nssv1765807,nssv1765818,nssv1765780,nssv1765762,nssv1765787,nssv1765746,nssv1765786,nssv1765814,nssv1765809,nssv1765815,nssv1765776,nssv1765761,nssv1765797,nssv1765810,nssv1765793,nssv1765768,nssv1765795,nssv1765749,nssv1765802,nssv1765742,nssv1765804,nssv1765759,nssv1765775,nssv1765764,nssv1765789,nssv1765741,nssv1765800,nssv1765748,nssv1765781,nssv1765747,nssv1765777,nssv1765754,nssv1765799,nssv1765745,nssv1765796,nssv1765753,nssv1765779,nssv1765752,nssv1765783,nssv1765811,nssv1765808,nssv1765771,nssv1765792,nssv1765806,nssv1765766,nssv1765790,nssv1765772,nssv1765782,nssv1765767,nssv1765801,nssv1765788 M 97 10 0 RHCE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv212n54 1 25563538 25567564 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545876,nsv545875,nsv545877,nsv545878 M 17421 0 6 RHCE dgv213n54 1 25568195 25571242 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545880,nsv545879 M 17421 0 4 RHCE esv2762137 1 25583643 25595837 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7005276 M 1109 1 0 RHCE RW_0117 nsv7479 1 25584324 25617005 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6452 M 9 1 0 RHCE NA12156 nsv945835 1 25594358 25601944 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765904,nssv1765846,nssv1765897,nssv1765912,nssv1765838,nssv1765862,nssv1765827,nssv1765881,nssv1765826,nssv1765895,nssv1765829,nssv1765908,nssv1765836,nssv1765910,nssv1765830,nssv1765911,nssv1765824,nssv1765893,nssv1765899,nssv1765852,nssv1765832,nssv1765847,nssv1765903,nssv1765870,nssv1765851,nssv1765889,nssv1765906,nssv1765820,nssv1765902,nssv1765874,nssv1765831,nssv1765865,nssv1765835,nssv1765894,nssv1765837,nssv1765878,nssv1765821,nssv1765871,nssv1765901,nssv1765854,nssv1765825,nssv1765864,nssv1765822,nssv1765914,nssv1765841,nssv1765887,nssv1765834,nssv1765913,nssv1765823,nssv1765843,nssv1765848,nssv1765916,nssv1765842,nssv1765858,nssv1765840,nssv1765868,nssv1765839,nssv1765888,nssv1765828,nssv1765860,nssv1765898,nssv1765892,nssv1765833,nssv1765883,nssv1765844,nssv1765855,nssv1765900,nssv1765896,nssv1765849,nssv1765877,nssv1765905,nssv1765879,nssv1765867,nssv1765866,nssv1765845,nssv1765850,nssv1765885,nssv1765853,nssv1765884,nssv1765907,nssv1765859,nssv1765856,nssv1765869,nssv1765915,nssv1765873,nssv1765890,nssv1765876,nssv1765909,nssv1765882,nssv1765886,nssv1765880,nssv1765857,nssv1765875,nssv1765863,nssv1765861,nssv1765891,nssv1765872 M 97 10 0 RHCE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945837 1 25601944 25624909 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766671,nssv1766657,nssv1765939,nssv1766643,nssv1765928,nssv1766661,nssv1765935,nssv1766650,nssv1765933,nssv1765951,nssv1765921,nssv1766642,nssv1766670,nssv1766639,nssv1765931,nssv1765949,nssv1766675,nssv1766648,nssv1765934,nssv1765954,nssv1766676,nssv1766654,nssv1765948,nssv1766663,nssv1765923,nssv1766668,nssv1765929,nssv1766667,nssv1765946,nssv1766664,nssv1765922,nssv1765953,nssv1765937,nssv1766658,nssv1766677,nssv1766669,nssv1765920,nssv1765950,nssv1765932,nssv1765944,nssv1765919,nssv1766655,nssv1765927,nssv1765942,nssv1766679,nssv1765943,nssv1765938,nssv1766647,nssv1765925,nssv1766640,nssv1766672,nssv1766644,nssv1766674,nssv1765917,nssv1765936,nssv1766641,nssv1765918,nssv1766659,nssv1765945,nssv1766653,nssv1765930,nssv1766652,nssv1766673,nssv1766651,nssv1766678,nssv1766662,nssv1765926,nssv1766649,nssv1765924,nssv1766645,nssv1765941,nssv1765955,nssv1766656,nssv1765940,nssv1766660,nssv1765952,nssv1766666,nssv1765947,nssv1766665,nssv1766646 M 97 10 0 RHCE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545881 1 25605135 25608713 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711875 M 17421 0 1 RHCE nsv480324 1 25613749 25613749 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010836 M 9 0 0 RHCE nsv479344 1 25614703 25614703 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013510 M 9 0 0 RHCE nsv481117 1 25617238 25617238 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016459 M 9 0 0 RHCE nsv479861 1 25620134 25620134 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010883 M 9 0 0 "" nsv479805 1 25620195 25620195 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011109 M 9 0 0 "" nsv479901 1 25620430 25620430 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011143 M 9 0 0 "" nsv480379 1 25620793 25620793 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018956 M 9 0 0 "" nsv479196 1 25621333 25621333 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014536 M 9 0 0 "" nsv479194 1 25621421 25621421 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020531 M 9 0 0 "" nsv479086 1 25626796 25626796 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011071 M 9 0 0 "" esv2570786 1 25631110 25632621 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5375032 M 1 0 1 TMEM57 NA18507 nsv480155 1 25632163 25632163 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020275 M 9 0 0 TMEM57 nsv474866 1 25632170 25632170 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010859 M 9 1 0 TMEM57 NA18956 nsv477052 1 25634116 25634116 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020165 M 9 1 0 TMEM57 NA18517 nsv471819 1 25634668 25634668 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012970 M 9 1 0 TMEM57 NA18555 nsv479992 1 25634945 25634945 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016889 M 9 0 0 TMEM57 nsv479544 1 25635641 25635641 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017923 M 9 0 0 TMEM57 nsv480469 1 25635756 25635756 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011202 M 9 0 0 TMEM57 nsv480564 1 25635870 25635870 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019950 M 9 0 0 TMEM57 nsv480070 1 25640186 25640186 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014701 M 9 0 0 TMEM57 nsv474100 1 25643101 25643101 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015884 M 9 1 0 TMEM57 NA12156 nsv479765 1 25644998 25644998 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011014 M 9 0 0 TMEM57 nsv480393 1 25645247 25645247 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010911 M 9 0 0 TMEM57 nsv474039 1 25645311 25645311 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019468 M 9 1 0 TMEM57 NA12156 nsv479656 1 25648059 25648059 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016917 M 9 0 0 TMEM57 dgv71e59 1 25707852 25708150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3413689,esv3445747 M 185 2 0 "" NA12891,NA12892 esv3450111 1 25728279 25728662 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652078 M 185 1 0 "" NA19240 esv3310450 1 25728582 25728582 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843644,essv7843646,essv7843645 M 185 3 0 "" NA19238,NA19239,NA19240 esv3381307 1 25728583 25728583 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8653233,essv8653234,essv8653235 M 185 3 0 "" NA19238,NA19239,NA19240 nsv480715 1 25764471 25764471 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016389 M 9 0 0 LDLRAP1 nsv477742 1 25768596 25768596 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019300 M 9 1 0 "" NA18517 nsv479294 1 25768737 25768737 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018335 M 9 0 0 "" nsv480818 1 25769505 25769505 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010744 M 9 0 0 "" nsv480597 1 25772074 25772074 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017202 M 9 0 0 "" nsv478983 1 25775644 25775644 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017876 M 9 0 0 "" nsv480023 1 25776591 25776591 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011670 M 9 0 0 "" nsv477804 1 25777669 25777669 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013432 M 9 1 0 "" NA18517 nsv481318 1 25777823 25777823 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013716 M 9 0 0 "" nsv480169 1 25779012 25779012 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019987 M 9 0 0 "" nsv479385 1 25779261 25779261 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014935 M 9 0 0 "" nsv480202 1 25779498 25779498 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016088 M 9 0 0 "" nsv476293 1 25780646 25780646 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016128 M 9 1 0 "" NA12878 nsv475325 1 25780899 25780899 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012172 M 9 1 0 "" NA19240 nsv481307 1 25782926 25782926 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016750 M 9 0 0 "" nsv480669 1 25783187 25783187 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011149 M 9 0 0 "" nsv480032 1 25783461 25783461 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020469 M 9 0 0 "" nsv475110 1 25786141 25786141 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019725 M 9 1 0 "" NA19240 nsv473914 1 25788479 25788479 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016731 M 9 1 0 "" NA12156 nsv480591 1 25788870 25788870 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019801 M 9 0 0 "" nsv481331 1 25789418 25789418 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017157 M 9 0 0 "" nsv478997 1 25792224 25792224 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011964 M 9 0 0 "" nsv480055 1 25793302 25793302 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014238 M 9 0 0 "" nsv479415 1 25796775 25796775 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010782 M 9 0 0 "" nsv481294 1 25797504 25797504 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013438 M 9 0 0 "" esv3358130 1 25863340 25863371 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863684 M 185 1 0 MAN1C1 NA12005 esv3357351 1 25914152 25914950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692258 M 185 1 0 MAN1C1 NA19239 nsv834491 1 25925489 26113195 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444262,nssv1444273 M 95 0 2 AUNIP,LOC646471,MAN1C1,MIR3917,MTFR1L,PAQR7,SEPN1,STMN1 nsv545882 1 25940048 25994684 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711876 M 17421 0 1 MAN1C1 nsv947417 1 25954071 25959719 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2759055 M 97 1 0 MAN1C1 HGDP00998 nsv819900 1 25961529 25965424 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419585 M 2 1 0 MAN1C1 AK1 esv2116011 1 25966663 25967529 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4648407 M 1 0 1 MAN1C1 NA18507 esv3381476 1 25967452 25968650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692259 M 185 1 0 MAN1C1 NA19239 nsv460884 1 25977560 26090671 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537367 M 1557 0 1 AUNIP,LOC646471,MAN1C1,MTFR1L,PAQR7,SEPN1,STMN1 HGDP01023 nsv545883 1 25977560 26090671 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173801 M 17421 0 1 AUNIP,LOC646471,MAN1C1,MTFR1L,PAQR7,SEPN1,STMN1 HGDP01023 nsv7490 1 25996935 26042615 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6462 M 9 0 1 AUNIP,LOC646471,MTFR1L,SEPN1 NA12156 esv2353706 1 26007187 26007636 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4547374 M 1 0 1 SEPN1 NA18507 esv1998326 1 26021366 26022037 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4882212 M 1 0 1 LOC646471,MTFR1L NA18507 nsv834502 1 26033359 26186506 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444284 M 95 1 0 AUNIP,MIR3917,PAFAH2,PAQR7,STMN1 nsv822165 1 26035402 26035875 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423950 M 31 0 1 AUNIP NA18582 nsv945838 1 26086399 26091055 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766694,nssv1764350,nssv1764378,nssv1766712,nssv1764374,nssv1764337,nssv1766700,nssv1764360,nssv1766702,nssv1766710,nssv1766709,nssv1764363,nssv1764375,nssv1764389,nssv1766684,nssv1764336,nssv1766690,nssv1764391,nssv1766689,nssv1764338,nssv1766681,nssv1764359,nssv1766697,nssv1764384,nssv1766696,nssv1766705,nssv1766711,nssv1764366,nssv1766695,nssv1764390,nssv1766698,nssv1764361,nssv1766691,nssv1764346,nssv1766688,nssv1764341,nssv1766685,nssv1766706,nssv1766708,nssv1766715,nssv1766683,nssv1764344,nssv1766687,nssv1764333,nssv1764381,nssv1766713,nssv1766686,nssv1764357,nssv1766682,nssv1764367,nssv1764380,nssv1764385,nssv1764376,nssv1764365,nssv1766704,nssv1764355,nssv1766701,nssv1764383,nssv1766693,nssv1764340,nssv1764373,nssv1766714,nssv1766692,nssv1764331,nssv1764372,nssv1764348,nssv1764377,nssv1764347,nssv1764379,nssv1764387,nssv1766699,nssv1764370,nssv1764342,nssv1764343,nssv1764382,nssv1764335,nssv1764352,nssv1764358,nssv1764351,nssv1764371,nssv1764369,nssv1764353,nssv1766703,nssv1764362,nssv1764356,nssv1764388,nssv1764345,nssv1764332,nssv1764349,nssv1766707,nssv1764368,nssv1766680,nssv1764364,nssv1764339,nssv1764334,nssv1764354,nssv1764386 M 97 10 0 STMN1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv834513 1 26122058 26286463 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444296 M 95 1 0 EXTL1,PAFAH2,SLC30A2,TRIM63 nsv472827 1 26150342 26150342 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013002 M 9 1 0 "" NA18555 nsv7501 1 26186060 26219501 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4016 M 9 1 0 PAFAH2 NA12878 nsv508678 1 26250144 26305214 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622761 M 4 0 1 TRIM63 NA18994 nsv478347 1 26275378 26275378 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012956 M 9 1 0 "" NA18507 nsv511129 1 26322688 26340581 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626365 M 1 0 1 PDIK1L 1 nsv819393 1 26322882 26323584 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419064 M 2 0 1 PDIK1L AK1 nsv945839 1 26325838 26328719 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765396,nssv1764392,nssv1765402,nssv1765389,nssv1764401,nssv1765377,nssv1765393,nssv1765410,nssv1765399,nssv1765369,nssv1764398,nssv1765368,nssv1765398,nssv1765349,nssv1764412,nssv1765375,nssv1764400,nssv1765352,nssv1764399,nssv1765370,nssv1764409,nssv1765407,nssv1765344,nssv1765381,nssv1764394,nssv1765367,nssv1764397,nssv1765346,nssv1764411,nssv1765355,nssv1764407,nssv1765362,nssv1765340,nssv1765371,nssv1764413,nssv1765372,nssv1764402,nssv1765379,nssv1764393,nssv1765353,nssv1764408,nssv1765382,nssv1764403,nssv1765405,nssv1764405,nssv1765390,nssv1765345,nssv1765403,nssv1764410,nssv1765388,nssv1764406,nssv1765341,nssv1765401,nssv1765343,nssv1765395,nssv1765411,nssv1764395,nssv1764415,nssv1765347,nssv1765342,nssv1765397,nssv1765357,nssv1764404,nssv1765380,nssv1764414,nssv1765384,nssv1764396,nssv1765363,nssv1765394,nssv1765392,nssv1765400,nssv1765360,nssv1765404,nssv1765406,nssv1765376,nssv1765412,nssv1765351,nssv1765408,nssv1765358,nssv1765359,nssv1765365,nssv1765387,nssv1765356,nssv1765378,nssv1765386,nssv1765350,nssv1765354,nssv1765385,nssv1765383,nssv1765348,nssv1765409,nssv1765374,nssv1765391,nssv1765364,nssv1765361,nssv1765366,nssv1765373 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv7512 1 26327011 26355920 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6471,nssv983 M 9 0 2 "" NA12156,NA19240 nsv822176 1 26328727 26337042 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1434164,nssv1437563,nssv1437934,nssv1423951 M 31 4 0 "" NA18547,NA18570,NA18582,NA18951 dgv214n54 1 26329174 26336842 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545884,nsv545886,nsv545885 M 17421 0 8 "" nsv511685 1 26331902 26337511 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626324 M 1 0 1 "" 1 esv23014 1 26332157 26337219 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv20260 M 40 23 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12239,NA12489,NA12749,NA12878,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19114,NA19129,NA19190,NA19257 nsv498668 1 26332682 26337394 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585448 M 9 0 1 "" dgv215n54 1 26333039 26335980 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545887,nsv545893 M 17421 0 13 "" dgv216n54 1 26333039 26337092 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545888,nsv545894,nsv545898,nsv545890,nsv545891,nsv545897,nsv545895,nsv545892,nsv545896,nsv545889 M 17421 0 121 "" nsv821140 1 26333085 26337699 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420292 M 1 0 1 "" NA10851 nsv822187 1 26333085 26337699 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1430338,nssv1428821,nssv1431801,nssv1436333,nssv1428020,nssv1423112,nssv1421447,nssv1432052,nssv1427250,nssv1425491,nssv1437220,nssv1431066,nssv1422365 M 31 0 13 "" AK10,AK12,AK16,AK18,AK20,AK4,AK8,NA18542,NA18552,NA18949,NA18972,NA18997,NA18999 nsv514923 1 26333144 26336748 CNV gain+loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2857947,nssv2857923,nssv2857934,nssv2857924,nssv2857959,nssv2857925,nssv2857937,nssv2857926,nssv2857943,nssv2857927,nssv2857940,nssv2858070,nssv2857938,nssv2858081,nssv2857957,nssv2857146,nssv2857949,nssv2858207,nssv2857941,nssv2858126,nssv2857954,nssv2858055,nssv2857945,nssv2858090,nssv2857929,nssv2858234,nssv2857953,nssv2858218,nssv2857936,nssv2858146,nssv2857931,nssv2857916,nssv2857962,nssv2858120,nssv2857955,nssv2857213,nssv2857956,nssv2857156,nssv2857939,nssv2857236,nssv2857932,nssv2857188,nssv2857961,nssv2857143,nssv2857960,nssv2858226,nssv2857948,nssv2858065,nssv2857933,nssv2858033,nssv2857942,nssv2857100,nssv2857952,nssv2857174,nssv2857964,nssv2858029,nssv2857951,nssv2858213,nssv2857935,nssv2858064,nssv2857965,nssv2858039,nssv2857950,nssv2857247,nssv2857966,nssv2857907,nssv2857958,nssv2858248,nssv2857963,nssv2857123,nssv2857946,nssv2858205,nssv2857944,nssv2858072,nssv2857930,nssv2858202,nssv2858111,nssv2857905,nssv2858258,nssv2858142,nssv2858219,nssv2857182,nssv2857186,nssv2857246,nssv2858181,nssv2858145,nssv2857897,nssv2858167,nssv2857116,nssv2858096,nssv2858119,nssv2857105,nssv2858239,nssv2857152,nssv2857922,nssv2858215,nssv2858257,nssv2857241,nssv2858118,nssv2858162,nssv2858259,nssv2858075,nssv2857890,nssv2858238,nssv2857101,nssv2858171,nssv2857149,nssv2857115,nssv2858227,nssv2858069,nssv2858041,nssv2857226,nssv2857894,nssv2857181,nssv2858101,nssv2857153,nssv2858056,nssv2858150,nssv2858187,nssv2858249,nssv2858131,nssv2858086,nssv2858152,nssv2857163,nssv2857245,nssv2858074,nssv2857190,nssv2857216,nssv2858244,nssv2858190,nssv2857232,nssv2858045,nssv2857107,nssv2857898,nssv2857103,nssv2858170,nssv2857178,nssv2858037,nssv2857229,nssv2858095,nssv2858079,nssv2858236,nssv2857887,nssv2857892,nssv2857113,nssv2857134,nssv2857205,nssv2857144,nssv2857151,nssv2858186,nssv2857211,nssv2857167,nssv2857230,nssv2857914,nssv2858077,nssv2858044,nssv2857910,nssv2858147,nssv2857901,nssv2858136,nssv2857124,nssv2857212,nssv2857132,nssv2858243,nssv2858255,nssv2858130,nssv2858089,nssv2857139,nssv2858184,nssv2857237,nssv2858177,nssv2857235,nssv2858156,nssv2858032,nssv2857227,nssv2858030,nssv2858217,nssv2857122,nssv2857217,nssv2858216,nssv2857210,nssv2857135,nssv2857102,nssv2858068,nssv2858051,nssv2857215,nssv2857242,nssv2857198,nssv2858211,nssv2857902,nssv2858105,nssv2857193,nssv2857889,nssv2857111,nssv2858083,nssv2858173,nssv2858242,nssv2858137,nssv2858115,nssv2857157,nssv2857109,nssv2858129,nssv2857919,nssv2857206,nssv2858160,nssv2858085,nssv2858201,nssv2857127,nssv2857184,nssv2857201,nssv2857108,nssv2857171,nssv2857141,nssv2858063,nssv2858139,nssv2858163,nssv2857140,nssv2857148,nssv2858128,nssv2858112,nssv2858208,nssv2858088,nssv2857118,nssv2858220,nssv2858144,nssv2858155,nssv2857200,nssv2858233,nssv2857154,nssv2858098,nssv2858161,nssv2858143,nssv2858047,nssv2857196,nssv2858210,nssv2858132,nssv2857915,nssv2857240,nssv2857175,nssv2858223,nssv2858040,nssv2857119,nssv2857207,nssv2858151,nssv2857121,nssv2858199,nssv2858180,nssv2858175,nssv2858206,nssv2858182,nssv2858049,nssv2857208,nssv2858076,nssv2858057,nssv2858241,nssv2858048,nssv2858078,nssv2857183,nssv2858174,nssv2857228,nssv2857117,nssv2857913,nssv2857195,nssv2857909,nssv2857126,nssv2857899,nssv2858225,nssv2857180,nssv2857166,nssv2857112,nssv2857912,nssv2858066,nssv2858124,nssv2858071,nssv2858168,nssv2858035,nssv2857248,nssv2857225,nssv2858092,nssv2857173,nssv2857903,nssv2858134,nssv2857238,nssv2858188,nssv2858164,nssv2857895,nssv2858179,nssv2858099,nssv2858232,nssv2857204,nssv2858189,nssv2858116,nssv2857177,nssv2858203,nssv2858034,nssv2858250,nssv2858221,nssv2858082,nssv2858194,nssv2857920,nssv2857891,nssv2857886,nssv2857170,nssv2858237,nssv2858053,nssv2858059,nssv2858209,nssv2857133,nssv2857203,nssv2857179,nssv2857120,nssv2858031,nssv2858084,nssv2858185,nssv2858093,nssv2858108,nssv2857885,nssv2857172,nssv2857114,nssv2858222,nssv2857244,nssv2858196,nssv2857928,nssv2858230,nssv2857187,nssv2857191,nssv2858247,nssv2858231,nssv2857202,nssv2858195,nssv2857194,nssv2858133,nssv2857176,nssv2858117,nssv2858229,nssv2857233,nssv2858097,nssv2857904,nssv2857219,nssv2858091,nssv2858050,nssv2857165,nssv2857185,nssv2858121,nssv2858253,nssv2858141,nssv2858261,nssv2858200,nssv2857131,nssv2858254,nssv2858038,nssv2858198,nssv2858183,nssv2857161,nssv2858052,nssv2858212,nssv2858153,nssv2857917,nssv2857159,nssv2857145,nssv2858169,nssv2858123,nssv2858046,nssv2857169,nssv2858165,nssv2857137,nssv2858158,nssv2858087,nssv2857150,nssv2858122,nssv2857138,nssv2857900,nssv2858228,nssv2857199,nssv2858192,nssv2858094,nssv2858080,nssv2858062,nssv2858148,nssv2858073,nssv2858235,nssv2858224,nssv2857189,nssv2858110,nssv2857222,nssv2858197,nssv2858135,nssv2857223,nssv2858154,nssv2857136,nssv2857220,nssv2857209,nssv2857104,nssv2857130,nssv2858178,nssv2857110,nssv2858204,nssv2858240,nssv2858103,nssv2857908,nssv2858159,nssv2858191,nssv2857231,nssv2858245,nssv2858114,nssv2857147,nssv2858042,nssv2857218,nssv2857158,nssv2858125,nssv2858172,nssv2857155,nssv2857221,nssv2858260,nssv2858138,nssv2857168,nssv2858193,nssv2858157,nssv2858060,nssv2858058,nssv2858176,nssv2857906,nssv2858109,nssv2858107,nssv2857921,nssv2858256,nssv2857214,nssv2858036,nssv2858061,nssv2857192,nssv2858127,nssv2857888,nssv2858102,nssv2857197,nssv2857106,nssv2858067,nssv2858166,nssv2857918,nssv2858214,nssv2857160,nssv2857224,nssv2857911,nssv2857164,nssv2858140,nssv2858106,nssv2857234,nssv2857125,nssv2858054,nssv2857243,nssv2857129,nssv2858113,nssv2857142,nssv2857162,nssv2857239,nssv2858104,nssv2857128,nssv2858149,nssv2857896,nssv2858252,nssv2858251,nssv2858100,nssv2858043,nssv2857893,nssv2858246 M 2366 460 4 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10855,NA10857,NA10859,NA10860,NA10863,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12044,NA12045,NA12056,NA12058,NA12145,NA12146,NA12154,NA12155,NA12156,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18488,NA18489,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19114,NA19115,NA19117,NA19118,NA19119,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21454,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21522,NA21523,NA21524,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 dgv217n54 1 26334109 26337092 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545900,nsv545899,nsv545902,nsv545901 M 17421 0 16 "" dgv218n54 1 26335166 26336842 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545905,nsv545904,nsv545903 M 17421 0 6 "" nsv545906 1 26335708 26337092 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712041 M 17421 0 1 "" esv2202284 1 26343585 26343998 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4736067 M 1 0 1 "" NA18507 nsv1002191 1 26348108 26418238 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464989 M 29084 1 0 CATSPER4,CNKSR1,FAM110D,ZNF593 esv3399845 1 26353885 26353894 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863685 M 185 1 0 "" NA12005 esv9535 1 26362204 26362970 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31976 M 1 0 0 "" esv4795 1 26362364 26362929 CNV loss Wang_et_al_2008 18987735 Sequencing essv27236 M 1 0 1 "" YH nsv160685 1 26362400 26362725 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179263 M 24 "" esv1290851 1 26362410 26362736 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3833066 M 2 0 1 "" HuRef nsv473502 1 26456921 26456921 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012680 M 9 1 0 CEP85 NA19129 esv1007945 1 26544094 26544144 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584480 M 3 0 1 AIM1L HuRef esv1693475 1 26544109 26544160 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3874525 M 2 0 1 AIM1L HuRef esv993255 1 26544116 26544166 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3572032 M 3 0 1 AIM1L HuRef nsv545907 1 26551628 26569213 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712042 M 17421 0 1 AIM1L,ZNF683 nsv1014791 1 26576917 26619399 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478434 M 29084 1 0 LIN28A esv1056005 1 26598890 26598890 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860909 M 2 1 0 "" HuRef esv1539325 1 26598896 26598896 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3612388 M 2 1 0 "" HuRef nsv945840 1 26625417 26628515 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765415,nssv1765443,nssv1765414,nssv1765483,nssv1765420,nssv1765479,nssv1765431,nssv1765501,nssv1765429,nssv1765484,nssv1765442,nssv1765451,nssv1765495,nssv1765506,nssv1765423,nssv1765481,nssv1765441,nssv1765463,nssv1765417,nssv1765458,nssv1765427,nssv1765500,nssv1765494,nssv1765472,nssv1765430,nssv1765461,nssv1765496,nssv1765465,nssv1765421,nssv1765447,nssv1765418,nssv1765446,nssv1765419,nssv1765488,nssv1765437,nssv1765457,nssv1765416,nssv1765486,nssv1765499,nssv1765413,nssv1765435,nssv1765440,nssv1765434,nssv1765436,nssv1765424,nssv1765509,nssv1765426,nssv1765474,nssv1765432,nssv1765453,nssv1765433,nssv1765466,nssv1765444,nssv1765489,nssv1765493,nssv1765464,nssv1765425,nssv1765467,nssv1765497,nssv1765507,nssv1765492,nssv1765478,nssv1765498,nssv1765449,nssv1765491,nssv1765468,nssv1765422,nssv1765439,nssv1765490,nssv1765482,nssv1765428,nssv1765450,nssv1765469,nssv1765459,nssv1765454,nssv1765487,nssv1765438,nssv1765485,nssv1765504,nssv1765508,nssv1765477,nssv1765502,nssv1765462,nssv1765473,nssv1765452,nssv1765460,nssv1765448,nssv1765470,nssv1765455,nssv1765480,nssv1765503,nssv1765471,nssv1765476,nssv1765505,nssv1765475,nssv1765445,nssv1765456 M 97 10 0 LIN28A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945841 1 26651563 26655142 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765511,nssv1765552,nssv1765531,nssv1765560,nssv1765524,nssv1765553,nssv1765595,nssv1765599,nssv1765528,nssv1765579,nssv1765513,nssv1765563,nssv1765589,nssv1765549,nssv1765591,nssv1765572,nssv1765521,nssv1765557,nssv1765517,nssv1765559,nssv1765514,nssv1765570,nssv1765518,nssv1765605,nssv1765532,nssv1765537,nssv1765593,nssv1765603,nssv1765541,nssv1765542,nssv1765539,nssv1765580,nssv1765516,nssv1765581,nssv1765527,nssv1765586,nssv1765538,nssv1765602,nssv1765592,nssv1765562,nssv1765530,nssv1765600,nssv1765534,nssv1765558,nssv1765515,nssv1765565,nssv1765587,nssv1765548,nssv1765526,nssv1765540,nssv1765529,nssv1765543,nssv1765596,nssv1765585,nssv1765523,nssv1765583,nssv1765519,nssv1765510,nssv1765520,nssv1765571,nssv1765512,nssv1765533,nssv1765525,nssv1765555,nssv1765590,nssv1765569,nssv1765522,nssv1765576,nssv1765588,nssv1765574,nssv1765594,nssv1765564,nssv1765554,nssv1765544,nssv1765567,nssv1765573,nssv1765578,nssv1765550,nssv1765561,nssv1765604,nssv1765606,nssv1765597,nssv1765575,nssv1765546,nssv1765535,nssv1765584,nssv1765556,nssv1765566,nssv1765568,nssv1765536,nssv1765598,nssv1765551,nssv1765547,nssv1765577,nssv1765545,nssv1765582,nssv1765601 M 97 10 0 DHDDS HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv947418 1 26669692 26676358 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761713 M 97 1 0 DHDDS,HMGN2 HGDP00998 nsv945842 1 26673796 26675311 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766301,nssv1766268,nssv1765627,nssv1766266,nssv1765616,nssv1766317,nssv1765629,nssv1765643,nssv1765625,nssv1765646,nssv1765608,nssv1766297,nssv1765609,nssv1765632,nssv1765623,nssv1766293,nssv1766307,nssv1766273,nssv1765611,nssv1766264,nssv1765621,nssv1766296,nssv1765622,nssv1766280,nssv1766306,nssv1765640,nssv1765624,nssv1766319,nssv1765613,nssv1765644,nssv1765636,nssv1766291,nssv1766302,nssv1765642,nssv1765635,nssv1766275,nssv1766303,nssv1765639,nssv1765618,nssv1766314,nssv1765610,nssv1766265,nssv1765628,nssv1766286,nssv1765615,nssv1766277,nssv1765638,nssv1765633,nssv1765631,nssv1766267,nssv1765614,nssv1766318,nssv1766308,nssv1766310,nssv1765626,nssv1766295,nssv1766309,nssv1766289,nssv1766304,nssv1766288,nssv1765612,nssv1766316,nssv1765620,nssv1765634,nssv1765617,nssv1766271,nssv1765619,nssv1766278,nssv1766300,nssv1766299,nssv1766305,nssv1766270,nssv1766274,nssv1766313,nssv1766279,nssv1766292,nssv1766312,nssv1766282,nssv1766272,nssv1766281,nssv1766294,nssv1766311,nssv1766290,nssv1765607,nssv1765641,nssv1766284,nssv1766287,nssv1765645,nssv1765630,nssv1765647,nssv1765637,nssv1766283,nssv1766269,nssv1766315,nssv1766276,nssv1766285,nssv1766298 M 97 10 0 HMGN2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545908 1 26708378 26860613 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712043 M 17421 0 1 MIR1976,RPS6KA1 nsv945843 1 26718298 26722007 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766335,nssv1765275,nssv1765284,nssv1765279,nssv1766338,nssv1766382,nssv1766328,nssv1766366,nssv1765289,nssv1766353,nssv1766344,nssv1765298,nssv1765287,nssv1765281,nssv1766321,nssv1766369,nssv1765290,nssv1766350,nssv1766348,nssv1766380,nssv1766324,nssv1766347,nssv1766336,nssv1765296,nssv1766334,nssv1766379,nssv1766332,nssv1766354,nssv1766342,nssv1765302,nssv1766323,nssv1766377,nssv1766339,nssv1765297,nssv1766337,nssv1766368,nssv1766351,nssv1766373,nssv1766327,nssv1766365,nssv1766333,nssv1766345,nssv1766325,nssv1766352,nssv1765292,nssv1766385,nssv1766329,nssv1766363,nssv1766340,nssv1766386,nssv1765288,nssv1766370,nssv1766330,nssv1766359,nssv1765293,nssv1766384,nssv1766331,nssv1765294,nssv1766341,nssv1766361,nssv1765286,nssv1765299,nssv1766322,nssv1765278,nssv1766349,nssv1766378,nssv1765285,nssv1766376,nssv1765291,nssv1765300,nssv1766326,nssv1765277,nssv1766387,nssv1765282,nssv1766346,nssv1766358,nssv1766374,nssv1766357,nssv1766362,nssv1766364,nssv1766375,nssv1766356,nssv1765280,nssv1766372,nssv1766383,nssv1766355,nssv1766360,nssv1766371,nssv1765276,nssv1766367,nssv1765301,nssv1765283,nssv1765303,nssv1765295,nssv1766343,nssv1766381,nssv1766320 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv526179 1 26733868 26778154 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv702441 M 2026 1 0 MIR1976,RPS6KA1 esv3409657 1 26735352 26738450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692260 M 185 1 0 RPS6KA1 NA19239 esv8356 1 26794293 26794450 CNV gain Ahn_et_al_2009 19470904 Sequencing essv30797 M 1 0 0 "" nsv7175 1 26797061 26886029 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10774,nssv1994,nssv4025,nssv5431,nssv6489,nssv994,nssv6480,nssv5440,nssv9811 M 9 0 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv994838 1 26837438 26849722 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564799 M 3 0 0 "" HuRef dgv2n50 1 26838846 26847109 OTHER inversion Arlt_et_al_2011 21212237 Sequencing,SNP array nsv513634,nsv513635 M 1 0 0 "" 1 nsv499540 1 26839406 26845950 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nssv585485 M 9 0 0 "" dgv72e59 1 26839510 26846713 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3349952,esv3333532 M 185 0 0 "" NA12878 esv1761897 1 26840409 26845806 OTHER inversion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4032934 M 2 0 0 "" HuRef nsv822198 1 26843335 26845358 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1427251 M 31 1 0 "" AK8 esv275548 1 26869653 26898376 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2586060 M 1250 0 1 ARID1A esv1007463 1 26882488 26887236 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565285 M 3 1 0 "" HuRef nsv1000012 1 26914047 27340606 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700633 M 29084 1 0 ARID1A,C1orf172,FAM46B,GPATCH3,GPN2,NR0B2,NUDC,PIGV,SFN,SLC9A1,TRNP1,ZDHHC18 nsv7523 1 26940776 26985618 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8873 M 9 0 1 ARID1A NA12156 nsv820211 1 26999996 27023596 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418692 M 2 0 1 "" AK1 nsv834524 1 27029262 27193580 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1444373,nssv1444307,nssv1444329,nssv1444362,nssv1444340,nssv1444351,nssv1444318 M 95 2 5 C1orf172,GPATCH3,GPN2,NR0B2,NUDC,SFN,TRNP1,ZDHHC18 nsv7535 1 27056171 27076901 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9264 M 9 1 0 SFN NA18517 nsv508689 1 27111540 27158584 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv620126 M 4 0 1 C1orf172,NR0B2,NUDC NA15510 esv1159948 1 27126362 27126362 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4022881 M 2 1 0 NUDC HuRef nsv945844 1 27174635 27185957 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765308,nssv1766405,nssv1765317,nssv1766392,nssv1765305,nssv1766416,nssv1766433,nssv1765330,nssv1766437,nssv1766390,nssv1765322,nssv1766413,nssv1765320,nssv1766419,nssv1765306,nssv1765337,nssv1766429,nssv1766410,nssv1765318,nssv1766412,nssv1765325,nssv1766414,nssv1765311,nssv1765334,nssv1765332,nssv1765304,nssv1765307,nssv1765331,nssv1766435,nssv1765329,nssv1765313,nssv1766408,nssv1765321,nssv1766415,nssv1765312,nssv1766401,nssv1765328,nssv1766427,nssv1765309,nssv1766421,nssv1766430,nssv1766417,nssv1766431,nssv1766425,nssv1765314,nssv1766398,nssv1765323,nssv1766448,nssv1765315,nssv1766440,nssv1765326,nssv1766409,nssv1765335,nssv1766422,nssv1765310,nssv1766443,nssv1766438,nssv1766397,nssv1765319,nssv1766391,nssv1765324,nssv1766442,nssv1765316,nssv1766395,nssv1766436,nssv1766393,nssv1765333,nssv1766447,nssv1766434,nssv1766399,nssv1766432,nssv1766420,nssv1766389,nssv1766388,nssv1766402,nssv1766424,nssv1765339,nssv1766418,nssv1766445,nssv1765327,nssv1766400,nssv1766426,nssv1766407,nssv1766394,nssv1765338,nssv1765336,nssv1766446,nssv1766441,nssv1766406,nssv1766396,nssv1766428,nssv1766444,nssv1766423,nssv1766411,nssv1766439,nssv1766404,nssv1766403 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv834535 1 27205663 27379004 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1444395,nssv1444384 M 95 1 1 FAM46B,SLC9A1 nsv1005755 1 27219364 27297480 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481726 M 29084 1 0 "" esv2763082 1 27221530 27280721 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7022410 M 1109 1 0 "" SW_0113 nsv545909 1 27240280 27276561 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712044 M 17421 0 1 "" nsv509058 1 27267926 27308443 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623778 M 4 1 0 SLC9A1 NA18994 esv2498789 1 27285352 27285762 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5196385 M 1 1 0 "" NA18507 esv3336032 1 27306104 27306304 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652079 M 185 1 0 SLC9A1 NA19240 esv28309 1 27337400 27338705 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14516 M 40 0 2 SLC9A1 NA19108,NA19114 esv1220296 1 27359590 27360237 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3949051 M 2 0 1 "" HuRef nsv471845 1 27361043 27361043 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014776 M 9 1 0 "" NA18555 nsv945846 1 27363412 27410385 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766478,nssv1757025,nssv1766451,nssv1766508,nssv1766455,nssv1766501,nssv1757042,nssv1766484,nssv1757034,nssv1766497,nssv1766467,nssv1766496,nssv1766458,nssv1757046,nssv1766450,nssv1766472,nssv1766464,nssv1766489,nssv1757039,nssv1766500,nssv1766453,nssv1757044,nssv1757040,nssv1757027,nssv1766457,nssv1766493,nssv1757043,nssv1757051,nssv1766465,nssv1766507,nssv1766473,nssv1757028,nssv1766463,nssv1757053,nssv1766466,nssv1766498,nssv1766469,nssv1766502,nssv1766454,nssv1766449,nssv1766456,nssv1766487,nssv1757041,nssv1757047,nssv1766462,nssv1757029,nssv1766471,nssv1766482,nssv1766452,nssv1766481,nssv1766461,nssv1757026,nssv1766470,nssv1766510,nssv1766480,nssv1766505,nssv1766460,nssv1766511,nssv1757036,nssv1766509,nssv1757035,nssv1766483,nssv1766468,nssv1766490,nssv1766459,nssv1766495,nssv1766477,nssv1757050,nssv1757037,nssv1766494,nssv1757038,nssv1766514,nssv1766506,nssv1757045,nssv1766476,nssv1766479,nssv1766512,nssv1766499,nssv1766515,nssv1766474,nssv1766492,nssv1766488,nssv1757049,nssv1757031,nssv1757032,nssv1757024,nssv1757052,nssv1766475,nssv1757030,nssv1766504,nssv1766491,nssv1757033,nssv1757048,nssv1766503,nssv1766485,nssv1766513,nssv1766486 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1010793 1 27413801 27481105 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477431,nssv3475703 M 29084 2 0 WDTC1 nsv526051 1 27483333 27644596 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv702288 M 2026 1 0 CD164L2,FCN3,GPR3,LOC644961,MAP3K6,SYTL1,TMEM222,WASF2,WDTC1 nsv945849 1 27510818 27513501 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757070,nssv1757090,nssv1757139,nssv1757119,nssv1757071,nssv1757129,nssv1757067,nssv1757054,nssv1757066,nssv1757086,nssv1757063,nssv1757149,nssv1757137,nssv1757103,nssv1757076,nssv1757110,nssv1757064,nssv1757121,nssv1757065,nssv1757145,nssv1757055,nssv1757093,nssv1757072,nssv1757087,nssv1757083,nssv1757127,nssv1757085,nssv1757080,nssv1757140,nssv1757105,nssv1757138,nssv1757096,nssv1757078,nssv1757144,nssv1757057,nssv1757122,nssv1757060,nssv1757130,nssv1757136,nssv1757143,nssv1757074,nssv1757114,nssv1757075,nssv1757120,nssv1757131,nssv1757113,nssv1757069,nssv1757106,nssv1757058,nssv1757108,nssv1757132,nssv1757126,nssv1757073,nssv1757111,nssv1757082,nssv1757150,nssv1757133,nssv1757109,nssv1757061,nssv1757142,nssv1757134,nssv1757098,nssv1757068,nssv1757094,nssv1757059,nssv1757095,nssv1757056,nssv1757148,nssv1757135,nssv1757115,nssv1757062,nssv1757124,nssv1757123,nssv1757077,nssv1757089,nssv1757079,nssv1757088,nssv1757118,nssv1757125,nssv1757101,nssv1757116,nssv1757147,nssv1757099,nssv1757084,nssv1757081,nssv1757100,nssv1757104,nssv1757117,nssv1757141,nssv1757112,nssv1757097,nssv1757091,nssv1757107,nssv1757146,nssv1757128,nssv1757102,nssv1757092 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945850 1 27523538 27527914 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757168,nssv1757213,nssv1757167,nssv1757212,nssv1757180,nssv1757202,nssv1757162,nssv1757223,nssv1757173,nssv1757194,nssv1757232,nssv1757201,nssv1757171,nssv1757222,nssv1757152,nssv1757188,nssv1757175,nssv1757218,nssv1757169,nssv1757209,nssv1757235,nssv1757214,nssv1757153,nssv1757216,nssv1757237,nssv1757227,nssv1757233,nssv1757199,nssv1757229,nssv1757226,nssv1757179,nssv1757239,nssv1757154,nssv1757196,nssv1757234,nssv1757204,nssv1757160,nssv1757191,nssv1757228,nssv1757238,nssv1757172,nssv1757183,nssv1757170,nssv1757177,nssv1757164,nssv1757187,nssv1757155,nssv1757207,nssv1757182,nssv1757184,nssv1757158,nssv1757200,nssv1757161,nssv1757243,nssv1757230,nssv1757225,nssv1757156,nssv1757242,nssv1757165,nssv1757246,nssv1757231,nssv1757190,nssv1757159,nssv1757240,nssv1757163,nssv1757219,nssv1757157,nssv1757193,nssv1757166,nssv1757217,nssv1757236,nssv1757208,nssv1757189,nssv1757220,nssv1757205,nssv1757210,nssv1757224,nssv1757151,nssv1757192,nssv1757211,nssv1757195,nssv1757244,nssv1757203,nssv1757247,nssv1757241,nssv1757215,nssv1757174,nssv1757185,nssv1757206,nssv1757245,nssv1757186,nssv1757198,nssv1757197,nssv1757178,nssv1757181,nssv1757176,nssv1757221 M 97 10 0 LOC644961,TMEM222 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv516766 1 27534822 27604238 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv670705,nssv654983 M 2026 0 2 CD164L2,FCN3,GPR3,MAP3K6,SYTL1,TMEM222,WASF2 esv1006916 1 27565654 27579596 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565148 M 3 0 1 CD164L2,FCN3,MAP3K6 HuRef esv3345943 1 27597552 27600850 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692271 M 185 1 0 "" NA19239 dgv14n27 1 27644596 27817946 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460895,nsv460906 M 1557 0 2 AHDC1,FGR,WASF2 1780854103_A,HGDP00861 esv2763086 1 27645135 27721887 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7022521 M 1109 1 0 WASF2 SW_1162 dgv219n54 1 27658921 27817946 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545911,nsv545912,nsv545910 M 17421 0 3 AHDC1,FGR,WASF2 HGDP00850,HGDP00861 esv2459986 1 27675886 27677456 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5207086 M 1 0 1 WASF2 NA18507 esv2248480 1 27676502 27677228 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4593459 M 1 0 1 WASF2 NA18507 esv4796 1 27676654 27677123 CNV loss Wang_et_al_2008 18987735 Sequencing essv27237 M 1 0 1 WASF2 YH esv2049917 1 27688425 27688740 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4809581 M 1 0 1 WASF2 NA18507 nsv159932 1 27688490 27688572 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178510 M 24 WASF2 nsv460917 1 27721887 27810043 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537395 M 1557 0 1 AHDC1 HGDP00890 dgv220n54 1 27721887 27830832 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545915,nsv545914,nsv545913 M 17421 0 4 AHDC1,FGR HGDP00890 nsv522842 1 27721887 27884441 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698494 M 2026 1 0 AHDC1,FGR,IFI6 nsv520790 1 27731623 27749069 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697612 M 2026 0 1 AHDC1 esv6834 1 27746629 27746779 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29275 M 1 0 0 AHDC1 nsv476781 1 27746930 27746930 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014802 M 9 1 0 AHDC1 NA12878 nsv508700 1 27755741 27852783 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv620127 M 4 0 1 AHDC1,FGR NA15510 nsv1014991 1 27759600 27827972 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700634 M 29084 1 0 AHDC1,FGR esv28987 1 27794010 27794965 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17459 M 40 0 1 AHDC1 NA12006 esv3375492 1 27794052 27795350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692272 M 185 1 0 AHDC1 NA19239 esv3938 1 27807843 27808388 CNV loss Wang_et_al_2008 18987735 Sequencing essv26379 M 1 0 1 "" YH esv2527619 1 27807978 27808106 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5200455 M 1 0 1 "" NA18507 nsv945851 1 27848450 27849600 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757250,nssv1758266,nssv1757265,nssv1757312,nssv1757329,nssv1758262,nssv1757264,nssv1757306,nssv1757259,nssv1757275,nssv1757260,nssv1757278,nssv1757263,nssv1757303,nssv1757325,nssv1757283,nssv1757262,nssv1758261,nssv1757270,nssv1758260,nssv1757258,nssv1757318,nssv1757249,nssv1757294,nssv1757266,nssv1757273,nssv1758258,nssv1757282,nssv1758256,nssv1757310,nssv1757330,nssv1757298,nssv1757326,nssv1757285,nssv1758257,nssv1757319,nssv1757267,nssv1757293,nssv1757269,nssv1757315,nssv1757272,nssv1757295,nssv1757268,nssv1757286,nssv1757254,nssv1757311,nssv1757252,nssv1757309,nssv1757276,nssv1757317,nssv1757261,nssv1757299,nssv1757327,nssv1757291,nssv1757277,nssv1757280,nssv1757331,nssv1757301,nssv1757279,nssv1757296,nssv1757328,nssv1757284,nssv1757255,nssv1757313,nssv1757253,nssv1757304,nssv1757256,nssv1757274,nssv1757257,nssv1758265,nssv1757251,nssv1758267,nssv1758263,nssv1757287,nssv1757271,nssv1757248,nssv1757320,nssv1757289,nssv1757324,nssv1757297,nssv1757288,nssv1757323,nssv1757307,nssv1757314,nssv1758264,nssv1757290,nssv1757281,nssv1758259,nssv1758268,nssv1757316,nssv1757321,nssv1757292,nssv1757308,nssv1757302,nssv1757300,nssv1757305,nssv1757322 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3303011 1 27851877 27852059 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7731701,essv7737696,essv7736153,essv7736679,essv7736546 M 185 0 0 "" NA12828,NA18582,NA18943,NA19005,NA19093 nsv160061 1 27852023 27852023 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178639 M 24 "" esv3434332 1 27885052 27887150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692273 M 185 1 0 "" NA19239 nsv476742 1 27904377 27904377 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016655 M 9 1 0 "" NA12878 nsv509069 1 28016558 28105054 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621088 M 4 1 0 PPP1R8,RPA2,SCARNA1,STX12,THEMIS2 NA15510 nsv947419 1 28016999 28023579 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2757611 M 97 1 0 STX12 HGDP00998 nsv511686 1 28051801 28054617 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626325 M 1 0 1 "" 1 nsv160741 1 28073149 28074083 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179319 M 24 THEMIS2 nsv512728 1 28077278 28077556 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625353 M 1 1 0 THEMIS2 1 esv3446306 1 28077432 28078250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652080 M 185 1 0 THEMIS2 NA19240 esv2400943 1 28120208 28120877 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4647745 M 1 0 1 "" NA18507 esv6007 1 28120280 28120930 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28448 M 1 0 0 "" esv3840 1 28120309 28120757 CNV loss Wang_et_al_2008 18987735 Sequencing essv26281 M 1 0 1 "" YH esv1132135 1 28120394 28120703 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4106955 M 2 0 1 "" HuRef nsv945852 1 28166408 28167521 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757714,nssv1757706,nssv1757654,nssv1757699,nssv1757653,nssv1757686,nssv1757666,nssv1757713,nssv1757650,nssv1757701,nssv1757715,nssv1757731,nssv1757659,nssv1757690,nssv1757722,nssv1757725,nssv1757643,nssv1757703,nssv1757718,nssv1757698,nssv1757645,nssv1757672,nssv1757721,nssv1757674,nssv1758270,nssv1757696,nssv1757640,nssv1757708,nssv1757665,nssv1757662,nssv1757651,nssv1757707,nssv1757657,nssv1757664,nssv1757652,nssv1757693,nssv1757655,nssv1757733,nssv1757719,nssv1757671,nssv1757649,nssv1757709,nssv1758271,nssv1757732,nssv1757658,nssv1757669,nssv1757656,nssv1757680,nssv1757644,nssv1757675,nssv1757720,nssv1757681,nssv1757647,nssv1757697,nssv1757668,nssv1757728,nssv1757641,nssv1757702,nssv1757642,nssv1757689,nssv1757661,nssv1757724,nssv1757717,nssv1757678,nssv1757723,nssv1757726,nssv1757648,nssv1757673,nssv1757716,nssv1757679,nssv1757646,nssv1757704,nssv1757676,nssv1757695,nssv1758269,nssv1757712,nssv1757663,nssv1757682,nssv1757685,nssv1757700,nssv1757729,nssv1757692,nssv1757683,nssv1757691,nssv1757705,nssv1757677,nssv1757670,nssv1757710,nssv1757711,nssv1757730,nssv1757688,nssv1757684,nssv1757687,nssv1757667,nssv1757727,nssv1757694,nssv1757660 M 97 10 0 XKR8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2255639 1 28200372 28200819 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4919567 M 1 0 1 EYA3 NA18507 esv2641492 1 28200543 28200642 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5244068 M 1 0 1 EYA3 NA18507 nsv998557 1 28201495 28275683 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479185 M 29084 1 0 EYA3 nsv947420 1 28226711 28231786 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2760201 M 97 1 0 EYA3 HGDP00998 nsv945853 1 28294245 28295475 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757753,nssv1757775,nssv1757817,nssv1757782,nssv1757812,nssv1757780,nssv1757762,nssv1757797,nssv1757751,nssv1757807,nssv1757747,nssv1757791,nssv1757750,nssv1757808,nssv1757765,nssv1757784,nssv1757746,nssv1757764,nssv1757737,nssv1757781,nssv1757740,nssv1757824,nssv1757756,nssv1757787,nssv1757815,nssv1757800,nssv1757742,nssv1757779,nssv1757754,nssv1757757,nssv1757736,nssv1757803,nssv1757749,nssv1757798,nssv1757735,nssv1757734,nssv1757752,nssv1757769,nssv1757818,nssv1757793,nssv1757811,nssv1757795,nssv1757763,nssv1757785,nssv1757743,nssv1757796,nssv1757816,nssv1757805,nssv1757758,nssv1757827,nssv1757745,nssv1757790,nssv1757819,nssv1757783,nssv1757748,nssv1757804,nssv1757755,nssv1757802,nssv1757744,nssv1757789,nssv1757738,nssv1757828,nssv1757814,nssv1757774,nssv1757739,nssv1757759,nssv1757741,nssv1757767,nssv1757820,nssv1757830,nssv1757813,nssv1757810,nssv1757826,nssv1757822,nssv1757761,nssv1757771,nssv1757829,nssv1757825,nssv1757792,nssv1757772,nssv1757799,nssv1757768,nssv1757821,nssv1757773,nssv1757778,nssv1757786,nssv1757770,nssv1757806,nssv1757801,nssv1757809,nssv1757777,nssv1757776,nssv1757766,nssv1757788,nssv1757823,nssv1757760,nssv1757794 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3359002 1 28348752 28350250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692280 M 185 1 0 PTAFR NA19239 nsv7546 1 28364799 28382553 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8875 M 9 0 1 PTAFR NA12156 esv3370107 1 28381129 28381129 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740958 M 185 1 0 PTAFR NA19240 nsv473375 1 28386281 28386281 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017047 M 9 1 0 PTAFR NA19129 nsv545916 1 28407820 28823449 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712049 M 17421 1 0 ATPIF1,DNAJC8,MED18,PHACTR4,RAB42,RCC1,SESN2,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,TAF12,TRNAU1AP nsv945854 1 28415656 28418176 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757855,nssv1757897,nssv1757850,nssv1757867,nssv1757834,nssv1757861,nssv1757848,nssv1757906,nssv1757859,nssv1757831,nssv1757847,nssv1757883,nssv1757844,nssv1757903,nssv1757862,nssv1757881,nssv1757853,nssv1757886,nssv1757837,nssv1757873,nssv1757851,nssv1757920,nssv1757832,nssv1757891,nssv1757860,nssv1757864,nssv1757915,nssv1757863,nssv1757840,nssv1757894,nssv1757839,nssv1757905,nssv1757849,nssv1757879,nssv1757909,nssv1757899,nssv1757913,nssv1757854,nssv1757841,nssv1757871,nssv1757912,nssv1757904,nssv1757917,nssv1757857,nssv1757852,nssv1757907,nssv1757910,nssv1757900,nssv1757846,nssv1757876,nssv1757833,nssv1757925,nssv1757843,nssv1757888,nssv1757914,nssv1757878,nssv1757908,nssv1757877,nssv1757911,nssv1757921,nssv1757835,nssv1757890,nssv1757836,nssv1757882,nssv1757845,nssv1757901,nssv1757916,nssv1757919,nssv1757838,nssv1757895,nssv1757842,nssv1757893,nssv1757884,nssv1757885,nssv1757880,nssv1757866,nssv1757918,nssv1757902,nssv1757892,nssv1757896,nssv1757870,nssv1757865,nssv1757858,nssv1757923,nssv1757887,nssv1757926,nssv1757869,nssv1757868,nssv1757927,nssv1757874,nssv1757856,nssv1757872,nssv1757924,nssv1757898,nssv1757889,nssv1757922,nssv1757875 M 97 10 0 DNAJC8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545917 1 28436866 28522964 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712050 M 17421 0 1 ATPIF1,SESN2 nsv819729 1 28437053 28444819 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419841 M 2 0 1 ATPIF1 AK1 nsv545918 1 28443393 28480203 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712051 M 17421 0 1 SESN2 esv994212 1 28469991 28480057 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564064 M 3 0 1 SESN2 HuRef esv2452579 1 28493653 28495158 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5173712 M 1 0 1 "" NA18507 esv1987510 1 28494019 28494439 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4722951 M 1 0 1 "" NA18507 nsv945855 1 28509876 28513227 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757947,nssv1758636,nssv1757939,nssv1758582,nssv1758625,nssv1758599,nssv1757930,nssv1758596,nssv1757944,nssv1758584,nssv1758575,nssv1758604,nssv1758621,nssv1758631,nssv1757945,nssv1758595,nssv1758564,nssv1758570,nssv1757941,nssv1758579,nssv1758622,nssv1758574,nssv1757931,nssv1758614,nssv1757936,nssv1758581,nssv1758629,nssv1758587,nssv1758572,nssv1758615,nssv1758566,nssv1758600,nssv1758630,nssv1758577,nssv1757929,nssv1758571,nssv1757934,nssv1758608,nssv1758628,nssv1758567,nssv1757942,nssv1758610,nssv1758627,nssv1758594,nssv1757946,nssv1758603,nssv1757937,nssv1758605,nssv1758626,nssv1758583,nssv1758573,nssv1758619,nssv1757938,nssv1758640,nssv1758623,nssv1758609,nssv1757940,nssv1758592,nssv1758565,nssv1758576,nssv1758568,nssv1758586,nssv1757933,nssv1758601,nssv1757932,nssv1758635,nssv1757935,nssv1758606,nssv1757943,nssv1758589,nssv1758624,nssv1758585,nssv1758620,nssv1758597,nssv1758578,nssv1758591,nssv1758580,nssv1758639,nssv1758590,nssv1758612,nssv1758588,nssv1758611,nssv1758607,nssv1758637,nssv1758598,nssv1758633,nssv1758613,nssv1758634,nssv1758638,nssv1758602,nssv1757928,nssv1758616,nssv1758618,nssv1758593,nssv1758632,nssv1758569,nssv1758617 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv480459 1 28521478 28521478 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020056 M 9 0 0 "" esv27407 1 28525684 28527481 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20171 M 40 0 2 "" NA18861,NA19129 nsv7557 1 28536220 28568097 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4043,nssv2893,nssv1003,nssv6496 M 9 4 0 "" NA12156,NA12878,NA18555,NA19240 esv3400135 1 28552631 28552744 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740959 M 185 1 0 "" NA19240 nsv481407 1 28577152 28577152 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015573 M 9 0 0 PHACTR4 nsv7568 1 28580390 28611219 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2004 M 9 1 0 PHACTR4 NA18555 nsv479078 1 28581970 28581970 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015846 M 9 0 0 PHACTR4 nsv481368 1 28587139 28587139 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019879 M 9 0 0 PHACTR4 nsv481357 1 28588446 28588446 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013054 M 9 0 0 PHACTR4 nsv477974 1 28589385 28589385 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016415 M 9 1 0 PHACTR4 NA18517 nsv480514 1 28590613 28590613 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013789 M 9 0 0 PHACTR4 esv2763087 1 28594585 28607999 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7022632 M 1109 0 1 PHACTR4 SW_1209 nsv480119 1 28596365 28596365 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013910 M 9 0 0 PHACTR4 nsv478136 1 28597042 28597042 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018023 M 9 1 0 PHACTR4 NA18507 nsv479595 1 28597071 28597071 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012113 M 9 0 0 PHACTR4 nsv481172 1 28597237 28597237 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013348 M 9 0 0 PHACTR4 nsv475594 1 28597534 28597534 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015236 M 9 1 0 PHACTR4 NA12878 nsv480904 1 28599566 28599566 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017412 M 9 0 0 PHACTR4 nsv473950 1 28601676 28601676 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014940 M 9 1 0 PHACTR4 NA12156 nsv475285 1 28602205 28602205 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015844 M 9 1 0 PHACTR4 NA19240 nsv474600 1 28603002 28603002 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016109 M 9 1 0 PHACTR4 NA18956 nsv479574 1 28603439 28603439 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015149 M 9 0 0 PHACTR4 nsv480960 1 28605187 28605187 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016694 M 9 0 0 PHACTR4 nsv479237 1 28606115 28606115 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013141 M 9 0 0 PHACTR4 nsv480717 1 28611119 28611119 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016895 M 9 0 0 PHACTR4 nsv480258 1 28611374 28611374 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020021 M 9 0 0 PHACTR4 nsv481019 1 28615436 28615436 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019602 M 9 0 0 PHACTR4 nsv481264 1 28686966 28686966 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013900 M 9 0 0 PHACTR4 nsv478587 1 28687080 28687080 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019869 M 9 1 0 PHACTR4 NA18507 nsv475450 1 28689386 28689386 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015357 M 9 1 0 PHACTR4 NA19240 nsv480111 1 28692904 28692904 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019965 M 9 0 0 PHACTR4 nsv472443 1 28698334 28698334 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018397 M 9 1 0 PHACTR4 NA18555 nsv479444 1 28698557 28698557 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014002 M 9 0 0 PHACTR4 nsv480901 1 28698581 28698581 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016622 M 9 0 0 PHACTR4 nsv480236 1 28698850 28698850 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013744 M 9 0 0 PHACTR4 nsv475240 1 28700194 28700194 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016840 M 9 1 0 "" NA19240 nsv545919 1 28700476 28710162 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712052 M 17421 0 1 RCC1,SNHG3 nsv477406 1 28701135 28701135 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017414 M 9 1 0 "" NA18517 nsv481388 1 28704480 28704480 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011552 M 9 0 0 "" nsv481614 1 28704925 28704925 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012216 M 9 0 0 "" nsv947421 1 28705050 28716447 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761555 M 97 1 0 RCC1,SNHG3 HGDP00665 nsv479542 1 28705088 28705088 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013958 M 9 0 0 RCC1,SNHG3 nsv479597 1 28707954 28707954 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010995 M 9 0 0 RCC1,SNHG3 nsv480107 1 28708611 28708611 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011450 M 9 0 0 RCC1,SNHG3 nsv945856 1 28724966 28726237 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758665,nssv1758696,nssv1758659,nssv1758713,nssv1758647,nssv1758704,nssv1758645,nssv1758693,nssv1758660,nssv1758680,nssv1758658,nssv1758731,nssv1758657,nssv1758710,nssv1758722,nssv1758676,nssv1758649,nssv1758730,nssv1758718,nssv1758734,nssv1758672,nssv1758682,nssv1758654,nssv1758702,nssv1758643,nssv1758733,nssv1758663,nssv1758666,nssv1758644,nssv1758714,nssv1758669,nssv1758675,nssv1758651,nssv1758701,nssv1758670,nssv1758678,nssv1758656,nssv1758707,nssv1758720,nssv1758717,nssv1758642,nssv1758728,nssv1758661,nssv1758671,nssv1758725,nssv1758690,nssv1758726,nssv1758737,nssv1758655,nssv1758712,nssv1758727,nssv1758674,nssv1758648,nssv1758700,nssv1758653,nssv1758673,nssv1758652,nssv1758681,nssv1758723,nssv1758692,nssv1758724,nssv1758664,nssv1758719,nssv1758641,nssv1758662,nssv1758711,nssv1758650,nssv1758667,nssv1758646,nssv1758706,nssv1758721,nssv1758695,nssv1758715,nssv1758691,nssv1758688,nssv1758679,nssv1758698,nssv1758703,nssv1758684,nssv1758686,nssv1758677,nssv1758729,nssv1758697,nssv1758668,nssv1758689,nssv1758705,nssv1758683,nssv1758694,nssv1758687,nssv1758735,nssv1758709,nssv1758685,nssv1758699,nssv1758736,nssv1758716,nssv1758732,nssv1758708 M 97 10 0 RCC1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv478111 1 28752563 28752563 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013593 M 9 1 0 TRNAU1AP NA18507 nsv506924 1 28807179 28813179 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619229 M 4 0 0 TAF12 NA10860 nsv819244 1 28810774 28820198 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418577 M 2 0 1 TAF12 AK1 nsv822209 1 28822555 28828270 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1439451 M 31 0 1 TAF12 NA18537 nsv476520 1 28824359 28824359 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011193 M 9 1 0 TAF12 NA12878 nsv475854 1 28827636 28827636 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016737 M 9 1 0 TAF12 NA12878 nsv545920 1 28847737 28877333 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712053 M 17421 0 1 GMEB1,RNU11 esv27154 1 28881153 28882469 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17553 M 40 0 1 GMEB1 NA12489 nsv477940 1 28918415 28918415 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016658 M 9 1 0 "" NA18517 nsv509080 1 28925638 28954514 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621089 M 4 1 0 YTHDF2 NA15510 nsv945857 1 28941727 28942949 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758742,nssv1756739,nssv1756761,nssv1756734,nssv1758756,nssv1756721,nssv1758755,nssv1756774,nssv1758757,nssv1756747,nssv1758750,nssv1756772,nssv1758748,nssv1756756,nssv1758752,nssv1756773,nssv1758754,nssv1758765,nssv1756766,nssv1756752,nssv1758746,nssv1756725,nssv1756758,nssv1756718,nssv1758766,nssv1756733,nssv1758760,nssv1756741,nssv1758751,nssv1756755,nssv1756764,nssv1756736,nssv1758762,nssv1756719,nssv1756762,nssv1756724,nssv1758753,nssv1756753,nssv1758741,nssv1756749,nssv1756765,nssv1756722,nssv1758749,nssv1758763,nssv1758739,nssv1756720,nssv1758747,nssv1756723,nssv1758740,nssv1756767,nssv1758745,nssv1756729,nssv1756757,nssv1756738,nssv1756763,nssv1756769,nssv1756759,nssv1756740,nssv1758769,nssv1756745,nssv1758744,nssv1756731,nssv1758758,nssv1756770,nssv1756760,nssv1756771,nssv1758767,nssv1758773,nssv1758759,nssv1758761,nssv1758743,nssv1758772,nssv1758770,nssv1756737,nssv1758764,nssv1756735,nssv1756750,nssv1758738,nssv1758768,nssv1756744,nssv1758771,nssv1756775,nssv1756776,nssv1756727,nssv1756751,nssv1756730,nssv1756726,nssv1756728,nssv1756754,nssv1756743,nssv1756746,nssv1756742,nssv1756717,nssv1756716,nssv1756748,nssv1756768,nssv1756732 M 97 10 0 YTHDF2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv160265 1 28950199 28952457 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178843 M 24 YTHDF2 nsv473498 1 28956953 28956953 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020238 M 9 1 0 YTHDF2 NA19129 dgv3n21 1 28980482 29017775 CNV loss Shaikh_et_al_2009 19592680 SNP array nsv517547,nsv525553 M 2026 0 3 OPRD1 nsv460928 1 28980482 29038725 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537404 M 1557 0 1 OPRD1 1782681216_A nsv545921 1 28980482 29038725 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173805 M 17421 0 1 OPRD1 1782681216_A nsv519203 1 28980482 29047960 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696691 M 2026 1 0 OPRD1 nsv525310 1 29011562 29017775 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701417 M 2026 0 1 OPRD1 nsv511687 1 29176875 29179033 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626326 M 1 0 1 EPB41 1 esv25713 1 29177014 29178897 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18451 M 40 0 2 EPB41 NA18517,NA18858 nsv945858 1 29177275 29182294 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756794,nssv1756839,nssv1756854,nssv1756814,nssv1756790,nssv1756851,nssv1756783,nssv1756811,nssv1756792,nssv1756827,nssv1756799,nssv1756865,nssv1756859,nssv1756872,nssv1756855,nssv1756836,nssv1756863,nssv1756822,nssv1756789,nssv1756825,nssv1756778,nssv1756804,nssv1756795,nssv1756802,nssv1756780,nssv1756833,nssv1756861,nssv1756829,nssv1756787,nssv1756807,nssv1756785,nssv1756815,nssv1756862,nssv1756871,nssv1756798,nssv1756845,nssv1756858,nssv1756869,nssv1756788,nssv1756819,nssv1756805,nssv1756830,nssv1756781,nssv1756853,nssv1756808,nssv1756816,nssv1756856,nssv1756813,nssv1756796,nssv1756820,nssv1756784,nssv1756850,nssv1756793,nssv1756810,nssv1756857,nssv1756852,nssv1756786,nssv1756835,nssv1756791,nssv1756821,nssv1756782,nssv1756849,nssv1756779,nssv1756868,nssv1756860,nssv1756817,nssv1756801,nssv1756826,nssv1756797,nssv1756838,nssv1756806,nssv1756866,nssv1756844,nssv1756864,nssv1756809,nssv1756803,nssv1756870,nssv1756842,nssv1756834,nssv1756800,nssv1756831,nssv1756837,nssv1756812,nssv1756846,nssv1756873,nssv1756818,nssv1756832,nssv1756841,nssv1756828,nssv1756840,nssv1756843,nssv1756777,nssv1756824,nssv1756848,nssv1756867,nssv1756823,nssv1756847 M 97 10 0 EPB41 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv7579 1 29220048 29264692 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4053 M 9 0 1 EPB41 NA12878 nsv1012565 1 29260224 29312016 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473342 M 29084 0 1 EPB41 nsv509091 1 29302319 29362998 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619783 M 4 1 0 EPB41,SRSF4,TMEM200B NA10860 nsv822220 1 29434584 29437978 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433414 M 31 1 0 PTPRU NA18526 nsv834546 1 29444869 29632888 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444407,nssv1444418 M 95 0 2 PTPRU nsv1002686 1 29493343 29571703 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465095 M 29084 1 0 PTPRU nsv545922 1 29493474 29551361 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712054 M 17421 0 1 PTPRU esv3360939 1 29597718 29597718 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8653236,essv8653238,essv8653237 M 185 3 0 "" NA19238,NA19239,NA19240 nsv545923 1 29645627 29656342 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712055 M 17421 0 1 "" nsv481413 1 29704615 29704615 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018670 M 9 0 0 "" nsv474654 1 29707298 29707298 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011016 M 9 1 0 "" NA18956 nsv7590 1 29708903 29740480 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5449 M 9 1 0 "" NA19129 nsv478286 1 29710471 29710471 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015579 M 9 1 0 "" NA18507 nsv471948 1 29711094 29711094 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015235 M 9 1 0 "" NA18555 nsv473458 1 29713405 29713405 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015557 M 9 1 0 "" NA19129 esv1675706 1 29717841 29717841 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4292225 M 2 1 0 "" HuRef esv2513036 1 29717842 29717917 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5332447 M 1 0 1 "" NA18507 esv3306823 1 29734987 29734988 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7743833,essv7744847,essv7741603,essv7750536,essv7752664,essv7758940,essv7743073 M 185 7 0 "" NA18502,NA18505,NA18511,NA18916,NA19129,NA19190,NA19257 esv3390848 1 29734987 29735003 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898745,essv8898749,essv8898743,essv8898748,essv8898746,essv8898742,essv8898744 M 185 7 0 "" NA18502,NA18505,NA18511,NA18916,NA19129,NA19190,NA19257 esv3349279 1 29750550 30901333 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740960 M 185 1 0 "" NA19240 esv3434210 1 29800678 29800892 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740961 M 185 1 0 "" NA19240 nsv475123 1 29803108 29803108 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012228 M 9 1 0 "" NA19240 nsv472843 1 29812561 29812561 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015530 M 9 1 0 "" NA18555 dgv4n21 1 29906089 29907258 CNV gain Shaikh_et_al_2009 19592680 SNP array nsv521489,nsv526370 M 2026 2 0 "" esv1005469 1 29907304 29912882 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565186 M 3 0 1 "" HuRef esv1779209 1 29923618 29923669 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3956446 M 2 0 1 "" HuRef nsv945860 1 29925756 29927904 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756884,nssv1756966,nssv1756891,nssv1756930,nssv1756955,nssv1756967,nssv1756903,nssv1756940,nssv1756896,nssv1756938,nssv1756885,nssv1756964,nssv1756882,nssv1756897,nssv1756876,nssv1756929,nssv1756951,nssv1756944,nssv1756960,nssv1756908,nssv1756892,nssv1756943,nssv1756875,nssv1756968,nssv1756957,nssv1756909,nssv1756886,nssv1756924,nssv1756883,nssv1756874,nssv1756958,nssv1756921,nssv1756889,nssv1756917,nssv1756880,nssv1756937,nssv1756956,nssv1756945,nssv1756890,nssv1756925,nssv1756887,nssv1756936,nssv1756898,nssv1756933,nssv1756952,nssv1756970,nssv1756895,nssv1756946,nssv1756878,nssv1756899,nssv1756902,nssv1756911,nssv1756893,nssv1756919,nssv1756953,nssv1756915,nssv1756881,nssv1756920,nssv1756959,nssv1756901,nssv1756905,nssv1756922,nssv1756954,nssv1756969,nssv1756894,nssv1756962,nssv1756879,nssv1756904,nssv1756888,nssv1756948,nssv1756877,nssv1756926,nssv1756918,nssv1756932,nssv1756942,nssv1756949,nssv1756913,nssv1756910,nssv1756927,nssv1756947,nssv1756912,nssv1756950,nssv1756941,nssv1756907,nssv1756906,nssv1756916,nssv1756965,nssv1756939,nssv1756900,nssv1756961,nssv1756963,nssv1756931,nssv1756934,nssv1756914,nssv1756928,nssv1756935,nssv1756923 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv7601 1 29930656 29957535 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2014 M 9 1 0 "" NA18555 nsv509102 1 29945493 30010314 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619784 M 4 1 0 "" NA10860 nsv945861 1 30003918 30004525 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756975,nssv1757010,nssv1756988,nssv1757003,nssv1756982,nssv1757011,nssv1758900,nssv1756971,nssv1758902,nssv1758884,nssv1756993,nssv1758886,nssv1756974,nssv1757018,nssv1757002,nssv1758910,nssv1756981,nssv1757012,nssv1756991,nssv1758877,nssv1758899,nssv1757013,nssv1756995,nssv1758907,nssv1756986,nssv1758872,nssv1756972,nssv1758914,nssv1756989,nssv1758912,nssv1758896,nssv1757006,nssv1758897,nssv1758881,nssv1758903,nssv1757015,nssv1757000,nssv1757023,nssv1756977,nssv1758913,nssv1756980,nssv1758887,nssv1756984,nssv1758880,nssv1756983,nssv1758873,nssv1758898,nssv1756994,nssv1756999,nssv1758875,nssv1756990,nssv1758908,nssv1758904,nssv1756996,nssv1756978,nssv1758882,nssv1758901,nssv1758894,nssv1756987,nssv1758883,nssv1756976,nssv1757005,nssv1756979,nssv1758909,nssv1756985,nssv1758878,nssv1758905,nssv1758891,nssv1756992,nssv1757021,nssv1756973,nssv1757001,nssv1756998,nssv1758885,nssv1758892,nssv1758911,nssv1757017,nssv1757014,nssv1757020,nssv1757008,nssv1758888,nssv1758890,nssv1758889,nssv1758893,nssv1756997,nssv1758915,nssv1757022,nssv1757016,nssv1757019,nssv1757009,nssv1757004,nssv1758879,nssv1757007,nssv1758874,nssv1758906,nssv1758895,nssv1758876 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv512729 1 30015730 30015759 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625355 M 1 1 0 "" 1 esv1170546 1 30016746 30016746 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4038385 M 2 1 0 "" HuRef esv1184465 1 30016800 30016800 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4058687 M 2 1 0 "" HuRef nsv545924 1 30018000 30528119 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712056 M 17421 1 0 "" dgv73e59 1 30070252 30072050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3413761,esv3333765 M 185 2 0 "" NA19239,NA19240 nsv479137 1 30081431 30081431 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012333 M 9 0 0 "" esv8236 1 30117823 30118894 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30677 M 1 0 0 "" esv3379609 1 30135670 30135670 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740962 M 185 1 0 "" NA19240 nsv460951 1 30141470 30175555 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537426 M 1557 0 1 "" HGDP00976 nsv545925 1 30141470 30175555 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173806 M 17421 0 1 "" HGDP00976 nsv7612 1 30153177 30198112 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8893 M 9 0 1 "" NA12156 nsv1011788 1 30157198 30214684 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700635 M 29084 0 1 "" esv1002943 1 30192852 30204151 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563870 M 3 0 1 "" HuRef nsv7623 1 30199030 30231539 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6516 M 9 1 0 "" NA12156 esv2763858 1 30258097 30261148 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7022854,essv7022743,essv7022966 M 1109 0 3 "" SW_0031,SW_0593,SW_1137 nsv515814 1 30258715 30260927 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv667788,nssv664863,nssv668377,nssv658372,nssv657229,nssv683554 M 2026 0 6 "" esv25779 1 30304515 30305330 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10698 M 40 1 0 "" NA19099 nsv7634 1 30304693 30325671 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8909 M 9 0 1 "" NA12156 dgv221n54 1 30327271 30951250 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545927,nsv545930,nsv545926,nsv545928 M 17421 0 4 "" dgv143n100 1 30336038 30952176 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001237,nsv1005851 M 29084 0 4 "" nsv545929 1 30346745 30479117 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712060 M 17421 0 1 "" nsv834558 1 30361070 30540999 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444429 M 95 1 0 "" esv2072629 1 30436704 30437184 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4969544 M 1 0 1 "" NA18507 esv29671 1 30461256 30466400 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20952,esv15135 M 40 0 2 "" NA11894,NA18517 esv3413479 1 30461452 30462550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692288 M 185 1 0 "" NA19238 dgv74e59 1 30461752 30462650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3411776,esv3426579 M 185 2 0 "" NA19239,NA19240 esv2758929 1 30478922 30514243 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756840 M 270 0 6 "" NA07048,NA07055,NA10835,NA10863,NA12249,NA12740 dgv144n100 1 30493566 30517797 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001571,nsv1007398 M 29084 0 2 "" nsv476754 1 30501027 30501027 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013200 M 9 1 0 "" NA12878 nsv1004875 1 30503995 30523266 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471473 M 29084 1 0 "" esv2763836 1 30506623 30512383 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7023077,essv7023188,essv7023299,essv7023521,essv7023410 M 1109 0 5 "" SW_0085,SW_0090,SW_0627,SW_0757,SW_1253 esv26727 1 30510995 30512660 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17301 M 40 0 3 "" NA12414,NA12489,NA15510 nsv9879 1 30511057 30513066 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv13746,nssv14079 M 31 0 2 "" NA10863,NA12740 nsv545931 1 30511272 30511382 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712062 M 17421 0 1 "" nsv545932 1 30511272 30511943 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712063 M 17421 0 1 "" dgv222n54 1 30511272 30512595 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545938,nsv545933,nsv545943,nsv545941,nsv545937,nsv545939,nsv545935,nsv545940,nsv545934 M 17421 0 68 "" dgv223n54 1 30511272 30513080 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545936,nsv545944,nsv545942 M 17421 0 7 "" nsv7646 1 30544833 30578979 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1013 M 9 1 0 "" NA19240 esv27233 1 30546544 30547144 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv11685 M 40 1 0 "" NA18861 nsv476229 1 30550223 30550223 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020415 M 9 1 0 "" NA12878 nsv834569 1 30550650 30704943 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444440 M 95 1 0 "" nsv945862 1 30603995 30606051 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758934,nssv1758953,nssv1758935,nssv1758962,nssv1758933,nssv1758954,nssv1758920,nssv1758973,nssv1758922,nssv1758966,nssv1758945,nssv1758956,nssv1758932,nssv1758952,nssv1758947,nssv1758974,nssv1758928,nssv1758983,nssv1758997,nssv1758955,nssv1758923,nssv1759009,nssv1758918,nssv1758986,nssv1758938,nssv1758949,nssv1759002,nssv1758980,nssv1758936,nssv1758990,nssv1758944,nssv1759010,nssv1758999,nssv1758943,nssv1758926,nssv1759011,nssv1758931,nssv1758969,nssv1759001,nssv1758963,nssv1758917,nssv1758961,nssv1759000,nssv1758964,nssv1758919,nssv1758968,nssv1758924,nssv1758958,nssv1758927,nssv1758981,nssv1758993,nssv1759007,nssv1758930,nssv1759004,nssv1758929,nssv1758978,nssv1758994,nssv1758967,nssv1758940,nssv1758950,nssv1758996,nssv1758987,nssv1758995,nssv1758970,nssv1758998,nssv1758984,nssv1758937,nssv1758977,nssv1758921,nssv1758960,nssv1758925,nssv1758982,nssv1759003,nssv1758979,nssv1758976,nssv1759008,nssv1758992,nssv1759005,nssv1759006,nssv1758957,nssv1758959,nssv1758948,nssv1758991,nssv1758942,nssv1758975,nssv1759012,nssv1758951,nssv1758985,nssv1758941,nssv1758971,nssv1758965,nssv1758939,nssv1758972,nssv1758989,nssv1758946,nssv1758916,nssv1758988 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv471972 1 30612295 30612295 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020142 M 9 1 0 "" NA18555 nsv509113 1 30636578 30654856 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619785,nssv617991,nssv623779,nssv621090 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv7657 1 30644163 30655616 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4077,nssv1022 M 9 2 0 "" NA12878,NA19240 nsv499355 1 30651101 30651402 CNV gain Kidd_et_al_2010b 21111241 Sequencing nssv586152 M 9 1 0 "" esv2214908 1 30654964 30655384 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4593443 M 1 0 1 "" NA18507 nsv545945 1 30657797 30711177 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712139 M 17421 0 1 "" nsv7668 1 30660933 30706220 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8924 M 9 0 1 "" NA12156 nsv834580 1 30665224 30827346 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444451 M 95 0 1 "" nsv1004876 1 30674949 30723801 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471474 M 29084 0 1 "" nsv1003513 1 30689751 30735061 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466302 M 29084 1 0 "" nsv476541 1 30732616 30732616 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016596 M 9 1 0 "" NA12878 nsv1004002 1 30748515 30807489 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467914 M 29084 0 1 "" nsv520401 1 30753373 30758238 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697394 M 2026 0 1 "" esv8551 1 30806384 30806693 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv30992 M 1 0 0 "" esv6950 1 30812981 30814475 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29391 M 1 0 0 "" nsv1009641 1 30843052 30854028 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467824 M 29084 0 1 "" nsv545946 1 30861554 30924039 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712140 M 17421 0 1 "" esv3368615 1 30879352 30880550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692292 M 185 1 0 "" NA19239 esv3432910 1 30879352 30883150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692293 M 185 1 0 "" NA19240 nsv7679 1 30880511 30914143 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10785,nssv1031 M 9 2 0 "" NA18956,NA19240 nsv460995 1 30886310 31044638 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537451 M 1557 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 HGDP01203 nsv545947 1 30886310 31044638 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173807 M 17421 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 HGDP01203 esv6869 1 30895173 30897439 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29310 M 1 0 0 "" esv3332144 1 30896852 30897450 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692294 M 185 1 0 "" NA19240 esv24111 1 30896875 30897370 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv11013 M 40 1 0 "" NA12287 esv1182314 1 30897176 30897176 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4283188 M 2 1 0 "" HuRef esv3344309 1 30900442 30901227 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652081 M 185 1 0 "" NA19240 nsv512730 1 30900874 30901206 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625356 M 1 1 0 "" 1 dgv145n100 1 30911505 31038432 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010777,nsv997356 M 29084 2 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 nsv947422 1 30916263 30941328 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2756747 M 97 1 0 "" HGDP00998 nsv476898 1 30937598 30937598 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020294 M 9 1 0 "" NA12878 nsv473861 1 30941694 30941694 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019924 M 9 1 0 "" NA12156 esv26125 1 30942241 30944401 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10436 M 40 0 3 "" NA18907,NA19099,NA19240 nsv509124 1 30956044 31005140 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619786 M 4 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 NA10860 esv1007398 1 30975685 30977627 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565079 M 3 1 0 "" HuRef esv3375939 1 30977492 30977918 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652082 M 185 1 0 LAPTM5 NA19240 nsv512731 1 30977722 30977961 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625357 M 1 1 0 LAPTM5 1 nsv7690 1 31004937 31035943 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5460 M 9 1 0 "" NA19129 esv1920491 1 31017065 31017455 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4835916 M 1 0 1 "" NA18507 nsv160695 1 31017158 31017249 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179273 M 24 "" esv1626816 1 31017248 31017342 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3654771 M 2 0 1 "" HuRef nsv159749 1 31017249 31017342 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178327 M 24 "" nsv159205 1 31018594 31018594 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv177783 M 24 "" esv4431 1 31021624 31022114 CNV loss Wang_et_al_2008 18987735 Sequencing essv26872 M 1 0 1 "" YH esv1377768 1 31021740 31021811 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4095672 M 2 0 1 "" HuRef nsv474060 1 31058903 31058903 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014320 M 9 1 0 "" NA12156 nsv519204 1 31110004 31174735 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696692 M 2026 1 0 SDC3 nsv461006 1 31119907 31148156 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537462 M 1557 0 1 SDC3 HGDP01077 nsv545948 1 31119907 31148156 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173808 M 17421 0 1 SDC3 HGDP01077 nsv545949 1 31126664 31180643 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712141 M 17421 0 1 PUM1,SDC3 nsv470707 1 31134811 31190045 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547720 M 443 1 0 PUM1,SDC3,SNORD103A,SNORD103B HGDP01049 esv2244846 1 31139876 31140318 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4651898 M 1 0 1 SDC3 NA18507 nsv160596 1 31139968 31140032 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179174 M 24 SDC3 nsv160199 1 31140093 31140159 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178777 M 24 SDC3 esv3386830 1 31142398 31142409 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863687 M 185 1 0 SDC3 NA12005 nsv947423 1 31179638 31187001 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2766057 M 97 1 0 PUM1,SNORD103A,SNORD103B HGDP00998 nsv545950 1 31180643 31307750 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712142 M 17421 0 1 PUM1,SNORD103A,SNORD103B,SNORD85 nsv945863 1 31180801 31181884 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759031,nssv1757338,nssv1759030,nssv1757354,nssv1759032,nssv1759051,nssv1757342,nssv1759076,nssv1759033,nssv1757334,nssv1759042,nssv1759069,nssv1759037,nssv1759043,nssv1759029,nssv1759036,nssv1759044,nssv1759062,nssv1759025,nssv1759048,nssv1759020,nssv1759038,nssv1759017,nssv1759045,nssv1759019,nssv1759047,nssv1757349,nssv1759039,nssv1759041,nssv1759064,nssv1759035,nssv1757335,nssv1759015,nssv1759073,nssv1757348,nssv1759063,nssv1759028,nssv1759080,nssv1759024,nssv1759052,nssv1759016,nssv1759050,nssv1759014,nssv1757333,nssv1757346,nssv1759070,nssv1757350,nssv1759056,nssv1757347,nssv1757352,nssv1759022,nssv1759053,nssv1759023,nssv1759071,nssv1759026,nssv1759065,nssv1757343,nssv1759078,nssv1757344,nssv1759013,nssv1759021,nssv1759049,nssv1759027,nssv1757360,nssv1757345,nssv1759068,nssv1757341,nssv1757351,nssv1759034,nssv1759054,nssv1759018,nssv1757336,nssv1759058,nssv1757339,nssv1759046,nssv1759055,nssv1759074,nssv1759040,nssv1759061,nssv1757356,nssv1757359,nssv1757355,nssv1759060,nssv1759077,nssv1757340,nssv1759066,nssv1759057,nssv1757357,nssv1757353,nssv1759075,nssv1759079,nssv1757332,nssv1759059,nssv1757337,nssv1759072,nssv1759067,nssv1757358 M 97 10 0 PUM1,SNORD103A,SNORD103B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945864 1 31194612 31195408 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757442,nssv1757415,nssv1757377,nssv1757401,nssv1757378,nssv1757433,nssv1757392,nssv1757434,nssv1757364,nssv1757416,nssv1757376,nssv1757384,nssv1757439,nssv1757421,nssv1757373,nssv1757396,nssv1757383,nssv1757451,nssv1757380,nssv1757395,nssv1757390,nssv1757429,nssv1757375,nssv1757411,nssv1757370,nssv1757418,nssv1757362,nssv1757435,nssv1757438,nssv1757386,nssv1757379,nssv1757455,nssv1757363,nssv1757419,nssv1757445,nssv1757391,nssv1757367,nssv1757361,nssv1757372,nssv1757431,nssv1757443,nssv1757422,nssv1757447,nssv1757412,nssv1757382,nssv1757428,nssv1757371,nssv1757423,nssv1757365,nssv1757425,nssv1757385,nssv1757454,nssv1757440,nssv1757432,nssv1757446,nssv1757407,nssv1757381,nssv1757408,nssv1757441,nssv1757402,nssv1757374,nssv1757388,nssv1757444,nssv1757417,nssv1757368,nssv1757409,nssv1757389,nssv1757450,nssv1757366,nssv1757398,nssv1757369,nssv1757393,nssv1757414,nssv1757387,nssv1757457,nssv1757406,nssv1757448,nssv1757399,nssv1757424,nssv1757426,nssv1757430,nssv1757405,nssv1757397,nssv1757449,nssv1757394,nssv1757404,nssv1757452,nssv1757453,nssv1757427,nssv1757410,nssv1757436,nssv1757420,nssv1757437,nssv1757413,nssv1757403,nssv1757456,nssv1757400 M 97 10 0 PUM1,SNORD103A,SNORD103B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv7701 1 31211445 31241511 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10787 M 9 1 0 PUM1,SNORD85 NA18956 nsv506925 1 31244010 31250010 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619230,nssv617528,nssv623266 M 4 0 0 PUM1 CHM,NA10860,NA18994 nsv508711 1 31330841 31437982 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618969 M 4 0 1 NKAIN1 NA10860 esv3334030 1 31332654 31332654 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740963 M 185 1 0 "" NA19240 esv21850 1 31347232 31348424 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11728 M 40 0 1 "" NA12878 nsv945865 1 31348350 31358329 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757473,nssv1757533,nssv1757475,nssv1757488,nssv1757474,nssv1757523,nssv1757541,nssv1757490,nssv1757539,nssv1757534,nssv1757480,nssv1757500,nssv1757476,nssv1757549,nssv1757487,nssv1757526,nssv1757461,nssv1757521,nssv1757469,nssv1757546,nssv1757482,nssv1757497,nssv1757536,nssv1757491,nssv1757468,nssv1757545,nssv1757470,nssv1757547,nssv1757459,nssv1757484,nssv1757489,nssv1757516,nssv1757472,nssv1757512,nssv1757542,nssv1757510,nssv1757535,nssv1757513,nssv1757540,nssv1757531,nssv1757544,nssv1757553,nssv1757478,nssv1757515,nssv1757479,nssv1757501,nssv1757464,nssv1757498,nssv1757477,nssv1757518,nssv1757460,nssv1757554,nssv1757466,nssv1757532,nssv1757467,nssv1757550,nssv1757462,nssv1757517,nssv1757543,nssv1757508,nssv1757465,nssv1757525,nssv1757486,nssv1757509,nssv1757538,nssv1757481,nssv1757537,nssv1757548,nssv1757463,nssv1757458,nssv1757471,nssv1757502,nssv1757504,nssv1757511,nssv1757485,nssv1757551,nssv1757505,nssv1757492,nssv1757522,nssv1757493,nssv1757494,nssv1757499,nssv1757514,nssv1757506,nssv1757552,nssv1757528,nssv1757530,nssv1757483,nssv1757496,nssv1757527,nssv1757519,nssv1757495,nssv1757520,nssv1757529,nssv1757503,nssv1757524,nssv1757507 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv274929 1 31394002 31397976 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585894 M 1250 0 1 "" nsv160707 1 31449037 31450756 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179285 M 24 NKAIN1 esv2758930 1 31454967 32238918 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757728,esv2756841 M 270 0 1 BAI2,COL16A1,FABP3,HCRTR1,LOC149086,LOC284551,MIR4254,NKAIN1,PEF1,PTP4A2,SERINC2,SNRNP40,SPOCD1,TINAGL1,ZCCHC17 NA12865 esv21860 1 31469492 31470357 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18661 M 40 0 8 NKAIN1 NA18505,NA18523,NA18861,NA18907,NA18909,NA19129,NA19190,NA19257 nsv9990 1 31492563 31496044 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv15765 M 31 0 1 "" NA18537 nsv822231 1 31492567 31494342 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1438184,nssv1439453 M 31 0 2 "" NA18537,NA18592 esv1672561 1 31497487 31497487 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3730001 M 2 1 0 "" HuRef nsv161067 1 31504561 31513729 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179645 M 24 SNRNP40 nsv10051 1 31506872 31509756 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv16093 M 31 1 0 SNRNP40 NA18504 nsv471842 1 31530570 31530570 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019416 M 9 1 0 SNRNP40 NA18555 esv1665695 1 31590996 31590996 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3776205 M 2 1 0 ZCCHC17 HuRef esv1003353 1 31615089 31622196 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564863 M 3 0 1 FABP3 HuRef nsv520589 1 31628061 31630585 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697507 M 2026 0 1 "" esv1538435 1 31632360 31632734 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3880925 M 2 0 1 "" HuRef nsv7712 1 31659995 31688285 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5468,nssv4085,nssv1039,nssv6532 M 9 4 0 SERINC2 NA12156,NA12878,NA19129,NA19240 nsv509135 1 31666005 31717658 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619787,nssv621091 M 4 2 0 SERINC2 NA10860,NA15510 esv1004118 1 31676044 31677315 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564081 M 3 1 0 SERINC2 HuRef esv21814 1 31677152 31677661 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv12924 M 40 2 0 SERINC2 NA12156,NA12287 esv1133300 1 31677421 31677421 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3979486 M 2 1 0 SERINC2 HuRef esv1676191 1 31677571 31677571 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3990095 M 2 1 0 SERINC2 HuRef nsv480863 1 31709122 31709122 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019896 M 9 0 0 "" nsv945867 1 31731579 31733770 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757962,nssv1757952,nssv1757626,nssv1757574,nssv1757629,nssv1757567,nssv1757583,nssv1757575,nssv1757628,nssv1757639,nssv1757596,nssv1757578,nssv1757957,nssv1757951,nssv1757614,nssv1757580,nssv1757617,nssv1757587,nssv1757585,nssv1757560,nssv1757621,nssv1757561,nssv1757954,nssv1757570,nssv1757955,nssv1757573,nssv1757602,nssv1757559,nssv1757634,nssv1757582,nssv1757594,nssv1757579,nssv1757600,nssv1757568,nssv1757610,nssv1757576,nssv1757590,nssv1757572,nssv1757623,nssv1757589,nssv1757613,nssv1757948,nssv1757599,nssv1757577,nssv1757633,nssv1757569,nssv1757959,nssv1757949,nssv1757597,nssv1757566,nssv1757584,nssv1757635,nssv1757956,nssv1757638,nssv1757627,nssv1757562,nssv1757607,nssv1757950,nssv1757958,nssv1757636,nssv1757618,nssv1757564,nssv1757624,nssv1757637,nssv1757616,nssv1757563,nssv1757601,nssv1757565,nssv1757591,nssv1757571,nssv1757631,nssv1757586,nssv1757630,nssv1757612,nssv1757625,nssv1757615,nssv1757609,nssv1757632,nssv1757598,nssv1757960,nssv1757608,nssv1757603,nssv1757581,nssv1757588,nssv1757592,nssv1757604,nssv1757953,nssv1757595,nssv1757605,nssv1757622,nssv1757611,nssv1757558,nssv1757620,nssv1757619,nssv1757593,nssv1757606,nssv1757961 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv509147 1 31733210 31765262 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619788,nssv617992,nssv623780,nssv621092 M 4 4 0 LOC149086,LOC284551 CHM,NA10860,NA15510,NA18994 nsv7723 1 31734799 31765936 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10798,nssv4095,nssv5475,nssv1048,nssv6542,nssv2021 M 9 6 0 LOC149086,LOC284551 NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv1008042 1 31738859 31761805 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565286 M 3 1 0 LOC149086,LOC284551 HuRef esv1047143 1 31740406 31740406 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3825409 M 2 1 0 "" HuRef esv2559743 1 31744072 31766217 OTHER inversion McKernan_et_al_2009 19546169 Sequencing essv5234776 M 1 0 0 LOC149086,LOC284551 NA18507 esv1513298 1 31744131 31744131 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3602292 M 2 1 0 "" HuRef nsv7734 1 31773326 31802980 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6550 M 9 1 0 "" NA12156 esv4808 1 31784311 31784825 CNV loss Wang_et_al_2008 18987735 Sequencing essv27249 M 1 0 1 "" YH nsv1011229 1 31804259 31844993 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472082 M 29084 0 1 TINAGL1 nsv10062 1 31809488 31861569 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv15780,nssv14086 M 31 1 1 HCRTR1,TINAGL1 NA18552,NA19221 esv1695245 1 31817131 31817196 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3937819 M 2 0 1 TINAGL1 HuRef nsv1000976 1 31850954 31938243 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464924 M 29084 0 1 COL16A1,HCRTR1,PEF1 esv3348184 1 31853652 31855150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692295 M 185 1 0 "" NA19239 nsv470708 1 31865112 31919351 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547721 M 443 0 1 COL16A1,HCRTR1,PEF1 HGDP00546 nsv545951 1 31865112 31938082 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712143 M 17421 1 0 COL16A1,HCRTR1,PEF1 nsv545952 1 31887380 31927871 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173809 M 17421 1 0 COL16A1 1780862339_A nsv472148 1 31903451 31903451 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019968 M 9 1 0 COL16A1 NA18555 nsv818123 1 31906324 31919351 CNV loss Wang_et_al_2007 17921354 SNP array nssv1415933 M 112 0 1 COL16A1 NA12750 nsv528364 1 31919351 31929596 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704951 M 2026 0 1 COL16A1 nsv461028 1 31938082 31987765 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537481 M 1557 0 1 BAI2,COL16A1 HGDP00433 nsv545953 1 31938082 31987765 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173810 M 17421 0 1 BAI2,COL16A1 HGDP00433 esv3382488 1 31946552 31947750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692296 M 185 1 0 "" NA19239 nsv1007786 1 31963748 32069112 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3476019 M 29084 1 0 BAI2,MIR4254,SPOCD1 nsv1007390 1 31995940 32065220 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700637 M 29084 1 0 BAI2,MIR4254,SPOCD1 nsv476501 1 32011703 32011703 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019586 M 9 1 0 "" NA12878 esv2517616 1 32045190 32046215 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5181268 M 1 1 0 SPOCD1 NA18507 nsv822242 1 32053586 32054159 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431802 M 31 0 1 SPOCD1 AK20 nsv160616 1 32053964 32053964 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179194 M 24 SPOCD1 esv3303073 1 32053978 32054061 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7733062,essv7733900,essv7739073,essv7731730 M 185 0 0 SPOCD1 NA18501,NA18943,NA19099,NA19138 nsv545954 1 32074105 32115955 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712144 M 17421 1 0 "" nsv1009817 1 32113846 32265963 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468771 M 29084 1 0 KHDRBS1,PTP4A2 esv33582 1 32135537 32184713 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv98660 M 51 0 1 PTP4A2 21606 nsv834591 1 32144041 32298052 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444462 M 95 0 1 KHDRBS1,PTP4A2 esv2127776 1 32146113 32146564 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4820483 M 1 0 1 PTP4A2 NA18507 nsv947424 1 32150394 32153423 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2764363 M 97 1 0 PTP4A2 HGDP00998 nsv945868 1 32157144 32157741 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757982,nssv1758021,nssv1758042,nssv1758039,nssv1757980,nssv1758001,nssv1757991,nssv1758017,nssv1757979,nssv1758024,nssv1757972,nssv1758030,nssv1757977,nssv1758057,nssv1758040,nssv1757998,nssv1757974,nssv1758000,nssv1758045,nssv1758054,nssv1757971,nssv1758059,nssv1757976,nssv1757997,nssv1757987,nssv1758056,nssv1758046,nssv1757990,nssv1757985,nssv1758035,nssv1757966,nssv1758003,nssv1757973,nssv1758007,nssv1757964,nssv1758050,nssv1758047,nssv1758058,nssv1757970,nssv1758023,nssv1757992,nssv1757988,nssv1757994,nssv1758026,nssv1757981,nssv1758002,nssv1758041,nssv1758055,nssv1757984,nssv1757999,nssv1758049,nssv1758004,nssv1758044,nssv1758028,nssv1757969,nssv1758052,nssv1757965,nssv1758051,nssv1757983,nssv1758013,nssv1757968,nssv1758038,nssv1758043,nssv1758029,nssv1757978,nssv1757989,nssv1757967,nssv1758053,nssv1757975,nssv1757993,nssv1758048,nssv1758020,nssv1758005,nssv1758018,nssv1757995,nssv1758022,nssv1758031,nssv1758037,nssv1758032,nssv1758006,nssv1758009,nssv1758036,nssv1758010,nssv1758011,nssv1758012,nssv1758034,nssv1758015,nssv1758008,nssv1758027,nssv1758033,nssv1758016,nssv1757986,nssv1758025,nssv1758014,nssv1757996,nssv1757963,nssv1758019 M 97 10 0 PTP4A2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv473209 1 32183692 32183692 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016046 M 9 1 0 "" NA19129 esv3431042 1 32183863 32183882 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593879 M 185 1 0 "" NA12873 esv3352317 1 32186006 32186006 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740965 M 185 1 0 "" NA19240 nsv10073 1 32220872 32225009 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv16758 M 31 0 1 "" NA18564 nsv820067 1 32221830 32224443 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419454 M 2 0 1 "" AK1 nsv822254 1 32222562 32224153 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1428021,nssv1440121 M 31 0 2 "" AK10,NA18564 esv25480 1 32317183 32320556 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16902 M 40 0 1 TMEM39B NA11993 dgv224n54 1 32317313 32319643 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545958,nsv545955 M 17421 0 2 TMEM39B dgv225n54 1 32317313 32320443 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545956,nsv545959 M 17421 0 2 TMEM39B nsv545957 1 32317313 32327172 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712147 M 17421 0 1 TMEM39B nsv476003 1 32417467 32417467 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020015 M 9 1 0 "" NA12878 nsv7745 1 32422058 32430257 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10803 M 9 1 0 TXLNA NA18956 nsv300 1 32445100 32479877 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1059 M 9 1 0 DCDC2B,EIF3I,IQCC,MTMR9LP,TMEM234 NA19240 nsv476322 1 32560802 32560802 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018358 M 9 1 0 HDAC1 NA12878 esv7048 1 32605766 32605965 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29489 M 1 0 0 BSDC1 nsv945869 1 32639137 32640939 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758079,nssv1758111,nssv1758077,nssv1758130,nssv1758084,nssv1758095,nssv1758066,nssv1758122,nssv1758071,nssv1758113,nssv1758073,nssv1758131,nssv1758076,nssv1758112,nssv1758143,nssv1758060,nssv1758088,nssv1758105,nssv1758139,nssv1758121,nssv1758074,nssv1758083,nssv1758089,nssv1758127,nssv1758137,nssv1758109,nssv1758064,nssv1758114,nssv1758146,nssv1758118,nssv1758075,nssv1758154,nssv1758063,nssv1758116,nssv1758082,nssv1758087,nssv1758069,nssv1758098,nssv1758070,nssv1758156,nssv1758061,nssv1758155,nssv1758145,nssv1758094,nssv1758072,nssv1758136,nssv1758144,nssv1758149,nssv1758080,nssv1758104,nssv1758067,nssv1758126,nssv1758138,nssv1758097,nssv1758142,nssv1758099,nssv1758068,nssv1758115,nssv1758078,nssv1758120,nssv1758062,nssv1758147,nssv1758091,nssv1758148,nssv1758081,nssv1758119,nssv1758140,nssv1758110,nssv1758065,nssv1758152,nssv1758141,nssv1758096,nssv1758132,nssv1758117,nssv1758085,nssv1758135,nssv1758092,nssv1758134,nssv1758128,nssv1758123,nssv1758101,nssv1758129,nssv1758090,nssv1758100,nssv1758093,nssv1758151,nssv1758133,nssv1758124,nssv1758125,nssv1758108,nssv1758153,nssv1758103,nssv1758086,nssv1758150,nssv1758106,nssv1758102,nssv1758107 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv521689 1 32639304 32647867 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698309 M 2026 0 1 "" nsv517673 1 32647543 32647867 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv654219,nssv671459,nssv665622,nssv693089,nssv652612,nssv656688,nssv664022,nssv660765,nssv658183,nssv683040,nssv654560,nssv658815 M 2026 0 12 "" nsv945871 1 32650180 32668684 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758342,nssv1758285,nssv1758326,nssv1758277,nssv1758366,nssv1758290,nssv1758320,nssv1758288,nssv1758297,nssv1758286,nssv1758318,nssv1758287,nssv1758312,nssv1758352,nssv1758328,nssv1758291,nssv1758360,nssv1758299,nssv1758306,nssv1758302,nssv1758305,nssv1758293,nssv1758331,nssv1758348,nssv1758340,nssv1758350,nssv1758344,nssv1758295,nssv1758308,nssv1758300,nssv1758304,nssv1758272,nssv1758345,nssv1758281,nssv1758301,nssv1758355,nssv1758335,nssv1758357,nssv1758319,nssv1758274,nssv1758339,nssv1758279,nssv1758367,nssv1758278,nssv1758322,nssv1758353,nssv1758307,nssv1758289,nssv1758313,nssv1758280,nssv1758359,nssv1758282,nssv1758309,nssv1758283,nssv1758332,nssv1758354,nssv1758343,nssv1758292,nssv1758365,nssv1758284,nssv1758321,nssv1758275,nssv1758341,nssv1758349,nssv1758296,nssv1758276,nssv1758329,nssv1758351,nssv1758362,nssv1758356,nssv1758157,nssv1758273,nssv1758327,nssv1758310,nssv1758338,nssv1758311,nssv1758358,nssv1758303,nssv1758316,nssv1758361,nssv1758363,nssv1758314,nssv1758334,nssv1758333,nssv1758364,nssv1758315,nssv1758317,nssv1758336,nssv1758298,nssv1758323,nssv1758346,nssv1758324,nssv1758294,nssv1758337,nssv1758347,nssv1758325,nssv1758330 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1005213 1 32737706 32888462 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472615 M 29084 1 0 ZBTB8A,ZBTB8OS nsv545960 1 32751825 32859639 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712150 M 17421 0 1 ZBTB8A nsv475689 1 32796136 32796136 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011022 M 9 1 0 ZBTB8A NA12878 nsv461039 1 32804999 32923538 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537491 M 1557 0 1 RBBP4,SYNC,ZBTB8A,ZBTB8OS HGDP00017 nsv545961 1 32804999 32923538 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173811 M 17421 0 1 RBBP4,SYNC,ZBTB8A,ZBTB8OS HGDP00017 esv2576617 1 32819170 32819844 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5236514 M 1 1 0 ZBTB8A NA18507 nsv512732 1 32819193 32820196 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625358 M 1 1 0 ZBTB8A 1 esv1277305 1 32819375 32819375 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3891525 M 2 1 0 ZBTB8A HuRef nsv519188 1 32857831 33019027 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696672 M 2026 0 1 KIAA1522,RBBP4,SYNC,YARS,ZBTB8OS nsv512733 1 32880712 32880740 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625359 M 1 1 0 ZBTB8OS 1 nsv160489 1 32891848 32896738 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179067 M 24 RBBP4 nsv945872 1 32904445 32907684 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758384,nssv1758421,nssv1758387,nssv1758464,nssv1758375,nssv1758413,nssv1758376,nssv1758427,nssv1758370,nssv1758436,nssv1758383,nssv1758422,nssv1758396,nssv1758444,nssv1758377,nssv1758463,nssv1758397,nssv1758408,nssv1758386,nssv1758443,nssv1758379,nssv1758395,nssv1758446,nssv1758460,nssv1758390,nssv1758417,nssv1758382,nssv1758412,nssv1758454,nssv1758461,nssv1758388,nssv1758402,nssv1758385,nssv1758437,nssv1758372,nssv1758431,nssv1758369,nssv1758403,nssv1758453,nssv1758428,nssv1758447,nssv1758419,nssv1758380,nssv1758442,nssv1758445,nssv1758457,nssv1758374,nssv1758393,nssv1758392,nssv1758423,nssv1758450,nssv1758459,nssv1758399,nssv1758456,nssv1758452,nssv1758398,nssv1758389,nssv1758435,nssv1758371,nssv1758441,nssv1758449,nssv1758405,nssv1758378,nssv1758406,nssv1758381,nssv1758426,nssv1758373,nssv1758401,nssv1758448,nssv1758418,nssv1758451,nssv1758368,nssv1758400,nssv1758429,nssv1758462,nssv1758455,nssv1758409,nssv1758458,nssv1758394,nssv1758416,nssv1758410,nssv1758440,nssv1758407,nssv1758438,nssv1758404,nssv1758425,nssv1758432,nssv1758439,nssv1758411,nssv1758415,nssv1758391,nssv1758420,nssv1758414,nssv1758433,nssv1758424,nssv1758434,nssv1758430 M 97 10 0 RBBP4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3429895 1 32908757 32908764 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863688 M 185 1 0 RBBP4 NA12005 nsv945873 1 32917893 32918696 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758475,nssv1758504,nssv1758469,nssv1758497,nssv1758467,nssv1758518,nssv1758480,nssv1758531,nssv1758484,nssv1758529,nssv1758482,nssv1758521,nssv1758550,nssv1758512,nssv1758496,nssv1758530,nssv1758478,nssv1758535,nssv1758481,nssv1758524,nssv1758473,nssv1758507,nssv1758476,nssv1758511,nssv1758477,nssv1758528,nssv1758493,nssv1758488,nssv1758472,nssv1758527,nssv1758543,nssv1758522,nssv1758474,nssv1758556,nssv1758487,nssv1758513,nssv1758479,nssv1758552,nssv1758548,nssv1758510,nssv1758542,nssv1758540,nssv1758466,nssv1758492,nssv1758494,nssv1758533,nssv1758549,nssv1758501,nssv1758546,nssv1758508,nssv1758485,nssv1758560,nssv1758489,nssv1758517,nssv1758483,nssv1758509,nssv1758547,nssv1758558,nssv1758545,nssv1758500,nssv1758544,nssv1758539,nssv1758471,nssv1758537,nssv1758486,nssv1758514,nssv1758470,nssv1758505,nssv1758551,nssv1758519,nssv1758468,nssv1758532,nssv1758523,nssv1758538,nssv1758534,nssv1758554,nssv1758491,nssv1758557,nssv1758553,nssv1758536,nssv1758499,nssv1758559,nssv1758525,nssv1758555,nssv1758515,nssv1758465,nssv1758526,nssv1758503,nssv1758502,nssv1758561,nssv1758498,nssv1758490,nssv1758541,nssv1758516,nssv1758520,nssv1758506,nssv1758495 M 97 10 0 RBBP4,SYNC HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv509158 1 32929901 33022008 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619789 M 4 1 0 KIAA1522,SYNC,YARS NA10860 nsv311 1 32949046 32968932 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8951 M 9 1 0 "" NA12156 nsv822265 1 32967265 32968667 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440808 M 31 1 0 "" NA18969 nsv322 1 32996547 33020183 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8957 M 9 0 1 KIAA1522,YARS NA12156 nsv516302 1 33093188 33152695 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699367,nssv670847,nssv667416,nssv696432,nssv668150,nssv672465,nssv661821,nssv687923,nssv668935 M 2026 0 9 FNDC5,HPCA,S100PBP,TMEM54 nsv509169 1 33181825 33270093 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619790 M 4 1 0 AK2,RNF19B NA10860 nsv834602 1 33185879 33354409 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444473 M 95 0 1 ADC,AK2,RNF19B nsv545962 1 33220807 33367799 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712151 M 17421 0 1 ADC,AK2 nsv512734 1 33224583 33224995 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625360 M 1 1 0 "" 1 esv3348537 1 33224597 33224611 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740966 M 185 1 0 "" NA19240 nsv945874 1 33248174 33249107 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759263,nssv1759240,nssv1759196,nssv1759203,nssv1759197,nssv1759221,nssv1759195,nssv1759273,nssv1759189,nssv1759237,nssv1759256,nssv1759224,nssv1759191,nssv1759232,nssv1759194,nssv1759272,nssv1759198,nssv1759230,nssv1759186,nssv1759220,nssv1759188,nssv1759251,nssv1759184,nssv1759271,nssv1759190,nssv1759252,nssv1759185,nssv1759250,nssv1759206,nssv1759266,nssv1759259,nssv1759246,nssv1759180,nssv1759205,nssv1759200,nssv1758562,nssv1758563,nssv1759265,nssv1759192,nssv1759242,nssv1759187,nssv1759211,nssv1759264,nssv1759241,nssv1759255,nssv1759267,nssv1759262,nssv1759222,nssv1759257,nssv1759210,nssv1759209,nssv1759245,nssv1759207,nssv1759201,nssv1759202,nssv1759239,nssv1759258,nssv1759208,nssv1759260,nssv1759268,nssv1759181,nssv1759204,nssv1759261,nssv1759231,nssv1759193,nssv1759236,nssv1759182,nssv1759228,nssv1759199,nssv1759216,nssv1759183,nssv1759227,nssv1759223,nssv1759229,nssv1759213,nssv1759212,nssv1759219,nssv1759233,nssv1759274,nssv1759270,nssv1759249,nssv1759238,nssv1759217,nssv1759247,nssv1759254,nssv1759269,nssv1759215,nssv1759235,nssv1759253,nssv1759248,nssv1759214,nssv1759234,nssv1759226,nssv1759243,nssv1759244,nssv1759218,nssv1759225 M 97 10 0 AK2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2080204 1 33248839 33251558 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4892698 M 1 0 1 AK2 NA18507 esv7538 1 33248869 33251543 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29979 M 1 0 0 AK2 esv2326918 1 33251509 33259617 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4754145 M 1 0 1 AK2 NA18507 esv1076420 1 33290084 33290084 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3933980 M 2 1 0 "" HuRef nsv480563 1 33382365 33382365 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015337 M 9 0 0 "" esv1009865 1 33423449 33426525 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565473 M 3 1 0 "" HuRef esv3333295 1 33424161 33425040 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652083 M 185 1 0 "" NA19240 nsv512735 1 33424398 33425033 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625361 M 1 1 0 "" 1 esv3395521 1 33424875 33424875 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740967 M 185 1 0 "" NA19240 esv3393577 1 33425043 33425234 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740968 M 185 1 0 "" NA19240 nsv520532 1 33463285 33468744 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697472 M 2026 0 1 "" nsv545963 1 33492229 33592721 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712152 M 17421 0 1 A3GALT2,MIR3605,PHC2,ZNF362 nsv524709 1 33504779 33510013 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700693 M 2026 0 1 ZNF362 nsv522364 1 33504779 33605520 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695144 M 2026 0 1 A3GALT2,MIR3605,PHC2,ZNF362 nsv516693 1 33557214 33592721 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv657897,nssv687609,nssv689909,nssv670196 M 2026 0 4 A3GALT2,MIR3605,PHC2 nsv834613 1 33572793 33734375 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444484 M 95 1 0 PHC2,ZSCAN20 nsv476125 1 33575543 33575543 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011119 M 9 1 0 PHC2 NA12878 esv1384773 1 33594482 33594482 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3757381 M 2 1 0 PHC2 HuRef nsv333 1 33629945 33675095 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8973 M 9 0 1 "" NA12156 nsv161059 1 33643387 33649647 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179637 M 24 "" nsv344 1 33706402 33727595 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1070,nssv9819 M 9 2 0 ZSCAN20 NA18507,NA19240 nsv945875 1 33739346 33740392 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759280,nssv1759340,nssv1759293,nssv1759313,nssv1759289,nssv1759308,nssv1759294,nssv1759332,nssv1759351,nssv1759341,nssv1759279,nssv1759309,nssv1759291,nssv1759314,nssv1759295,nssv1759331,nssv1759278,nssv1759328,nssv1759283,nssv1759323,nssv1759353,nssv1759317,nssv1759284,nssv1759338,nssv1759286,nssv1759329,nssv1759277,nssv1759337,nssv1759349,nssv1759322,nssv1759288,nssv1759318,nssv1759345,nssv1759302,nssv1759297,nssv1759334,nssv1759281,nssv1759321,nssv1759346,nssv1759342,nssv1759290,nssv1759344,nssv1759303,nssv1759343,nssv1759276,nssv1759327,nssv1759352,nssv1759333,nssv1759292,nssv1759326,nssv1759287,nssv1759315,nssv1759304,nssv1759319,nssv1759354,nssv1759336,nssv1759348,nssv1759298,nssv1759282,nssv1759330,nssv1759299,nssv1759324,nssv1759350,nssv1759307,nssv1759347,nssv1759316,nssv1759306,nssv1759335,nssv1759285,nssv1759300,nssv1759296,nssv1759301,nssv1759339,nssv1759320,nssv1759305,nssv1759325,nssv1759275,nssv1759312,nssv1759311,nssv1759310 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv355 1 33774181 33807836 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5476 M 9 1 0 CSMD2 NA19129 nsv819833 1 33797262 33797607 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418793 M 2 1 0 CSMD2 AK1 esv22194 1 33801325 33802207 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15686 M 40 0 1 CSMD2 NA19147 nsv518591 1 33801657 33805004 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696037 M 2026 0 1 CSMD2 esv25436 1 33813677 33815418 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv9843 M 40 0 2 CSMD2 NA12006,NA12878 nsv366 1 33867154 33899542 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4102 M 9 1 0 CSMD2 NA12878 nsv524359 1 33983119 33985987 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv700270 M 2026 1 0 CSMD2 nsv509180 1 34002911 34088610 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621093 M 4 1 0 CSMD2 NA15510 esv3423069 1 34052649 34052690 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898750,essv8898751 M 185 2 0 CSMD2 NA07357,NA11831 esv3307875 1 34052665 34052666 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7760469,essv7747604 M 185 2 0 CSMD2 NA07357,NA11831 esv27629 1 34066809 34067434 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13302 M 40 0 1 CSMD2 NA19257 nsv834624 1 34078260 34244419 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444495 M 95 0 1 CSMD2,HMGB4,LOC402779 esv34112 1 34100866 34183579 CNV loss Gusev_et_al_2009 18971310 SNP array essv6990721 M 270 0 0 CSMD2,HMGB4,LOC402779 esv25885 1 34179535 34184619 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15068 M 40 0 1 CSMD2 NA12044 nsv834635 1 34191925 34384562 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444506 M 95 1 0 CSMD2 nsv470709 1 34193283 34697183 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547725,nssv547722,nssv547724 M 443 3 0 C1orf94,CSMD2 HGDP00890,HGDP00982,HGDP00983 nsv545964 1 34195799 34693662 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173812 M 17421 1 0 C1orf94,CSMD2 HGDP00983 nsv476113 1 34260151 34260151 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018444 M 9 1 0 CSMD2 NA12878 nsv834646 1 34286753 34461293 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444518 M 95 1 0 C1orf94,CSMD2 nsv461062 1 34316717 34319281 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537511 M 1557 0 1 CSMD2 HGDP01317 nsv545965 1 34316717 34319281 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173813 M 17421 0 1 CSMD2 HGDP01317 esv2267346 1 34340556 34341056 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4953377 M 1 0 1 CSMD2 NA18507 nsv834657 1 34340673 34517053 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444529 M 95 1 0 C1orf94,CSMD2 esv1307103 1 34340765 34340860 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3968445 M 2 0 1 CSMD2 HuRef nsv158970 1 34340791 34340885 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177548 M 24 CSMD2 nsv506926 1 34370267 34376267 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619231,nssv617529,nssv623267,nssv620650 M 4 0 0 CSMD2 CHM,NA10860,NA15510,NA18994 esv3446717 1 34408931 34408941 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898756,essv8898757,essv8898759,essv8898760,essv8898753,essv8898755,essv8898752,essv8898754,essv8898761 M 185 9 0 C1orf94 NA18499,NA18504,NA18508,NA18516,NA18871,NA18909,NA19093,NA19108,NA19210 nsv834669 1 34421604 34599428 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444540 M 95 1 0 C1orf94 nsv545966 1 34437806 34452906 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712153 M 17421 0 1 C1orf94 nsv475181 1 34455105 34455105 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019223 M 9 1 0 C1orf94 NA19240 nsv377 1 34528557 34558810 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2038 M 9 1 0 "" NA18555 nsv521016 1 34537561 34556271 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697737 M 2026 0 1 "" esv3330939 1 34539562 34539562 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740969 M 185 1 0 "" NA19240 nsv524723 1 34562882 34627215 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv700709 M 2026 1 0 "" nsv528365 1 34594418 34607545 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704952 M 2026 0 1 "" nsv388 1 34636134 34681258 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8984 M 9 0 1 "" NA12156 nsv521683 1 34639243 34639955 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698303 M 2026 0 1 "" esv2760087 1 34699464 34705673 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005280,essv7005282,essv7005281,essv7005277,essv7005279 M 1109 0 5 "" RW_0047,RW_0105,RW_0146,RW_0180,RW_0582 esv2497338 1 34779251 34779683 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5255546 M 1 1 0 "" NA18507 nsv10084 1 34847046 34853646 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv13436 M 31 0 1 "" NA19007 nsv1013373 1 34855555 34877066 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470570,nssv3477638,nssv3480981 M 29084 0 3 "" dgv146n100 1 34861071 34877066 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001313,nsv1002546,nsv1008561,nsv1011406,nsv1003697,nsv997969 M 29084 0 29 "" esv2760077 1 34861071 34886855 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7027279,essv7027191,essv7027246,essv7027557,essv7027368,essv7024411,essv7027135,essv7024855,essv7027068,essv7027479,essv7024744,essv7024633,essv7027179,essv7025633,essv7027390,essv7027224,essv7027468,essv7026633,essv7025966,essv7024300,essv7027546,essv7025077,essv7026188,essv7027501,essv7026855,essv7027568,essv7027357,essv7027579,essv7027302,essv7027524,essv7027157,essv7026411,essv7026744,essv7027490,essv7025189,essv7027346,essv7025744,essv7027657,essv7023965,essv7027590,essv7024522,essv7027324,essv7027601,essv7027612,essv7027435,essv7027401,essv7027057,essv7027623,essv7027257,essv7027379,essv7027424,essv7027635,essv7024966,essv7027646,essv7026300,essv7024078,essv7027213,essv7027113,essv7027446,essv7026522,essv7027091,essv7027268,essv7027202,essv7027080,essv7027102,essv7026077,essv7027168,essv7027413,essv7027535,essv7027046,essv7026966,essv7027457,essv7024189,essv7027335,essv7027235,essv7025300,essv7023854,essv7025522,essv7027313,essv7027512,essv7027146,essv7025855,essv7023632,essv7027124,essv7027290,essv7025411,essv7023743 M 1109 0 87 "" SW_0006,SW_0009,SW_0029,SW_0045,SW_0046,SW_0061,SW_0063,SW_0073,SW_0076,SW_0120,SW_0141,SW_0145,SW_0170,SW_0173,SW_0197,SW_0198,SW_0216,SW_0225,SW_0226,SW_0239,SW_0505,SW_0576,SW_0578,SW_0581,SW_0586,SW_0605,SW_0607,SW_0621,SW_0623,SW_0628,SW_0635,SW_0640,SW_0641,SW_0663,SW_0665,SW_0701,SW_0818,SW_0820,SW_0829,SW_0835,SW_0841,SW_0859,SW_0869,SW_0875,SW_0883,SW_0889,SW_1023,SW_1043,SW_1045,SW_1051,SW_1079,SW_1089,SW_1101,SW_1111,SW_1112,SW_1113,SW_1119,SW_1122,SW_1125,SW_1126,SW_1127,SW_1131,SW_1150,SW_1168,SW_1176,SW_1180,SW_1189,SW_1194,SW_1198,SW_1232,SW_1270,SW_1273,SW_1294,SW_1317,SW_1380,SW_1395,SW_1408,SW_1433,SW_1439,SW_1440,SW_1483,SW_1511,SW_1517,SW_1520,SW_1539,SW_1569,SW_1570 nsv243 1 34862127 34887178 CNV deletion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv243 M 1 0 1 "" NA15510 nsv399 1 34862127 34893747 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6567,nssv4111,nssv10904 M 9 0 3 "" NA12156,NA12878,NA15510 dgv147n100 1 34863336 34889136 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009991,nsv1007837,nsv1003396 M 29084 0 6 "" esv32563 1 34867574 34883404 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv101290,essv96198,essv94955 M 51 3 0 "" 21805,22007,22231 nsv511144 1 34868239 34885771 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625599 M 1 0 1 "" 1 nsv947425 1 34869269 34885851 CNV deletion Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761976 M 97 0 1 "" HGDP01029 nsv10095 1 34869617 34884877 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv14076,nssv12761,nssv14416 M 31 0 3 "" NA10863,NA12872,NA18552 nsv545967 1 34870107 34884410 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712154 M 17421 0 1 "" dgv2n17 1 34870107 34885771 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nsv437368,nsv437146,nsv437035,nsv437257 M 60 0 4 "" NA10830,NA10854,NA12753,NA12878 nsv511688 1 34873412 34885449 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626327 M 1 0 1 "" 1 esv1009124 1 34873811 34890553 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564360 M 3 0 1 "" HuRef nsv498669 1 34874008 34884565 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585452 M 9 0 1 "" esv28454 1 34874894 34884557 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19701 M 40 0 14 "" NA07037,NA07045,NA12156,NA12414,NA12489,NA12828,NA12878,NA15510,NA18858,NA18861,NA18907,NA19099,NA19108,NA19147 dgv148n100 1 34875229 34890618 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001400,nsv1000255,nsv1001886 M 29084 0 64 "" nsv442849 1 34875241 34877078 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617768,nssv1617799,nssv1617753,nssv1617796,nssv1617757,nssv1617761,nssv1617790,nssv1617783,nssv1617785,nssv1617759,nssv1617770,nssv1617784,nssv1617800,nssv1617779,nssv1617778,nssv1617756,nssv1617774,nssv1617788,nssv1617767,nssv1617804,nssv1617812,nssv1617764,nssv1617760,nssv1617775,nssv1617749,nssv1617810,nssv1617766,nssv1617748,nssv1617807,nssv1617781,nssv1617751,nssv1617772,nssv1617776,nssv1617746,nssv1617755,nssv1617765,nssv1617797,nssv1617811,nssv1617763,nssv1617805,nssv1617786,nssv1617803,nssv1617801,nssv1617754,nssv1617752,nssv1617787,nssv1617789,nssv1617792,nssv1617777,nssv1617793,nssv1617794,nssv1617808,nssv1617809,nssv1617762,nssv1617782,nssv1617798,nssv1617773,nssv1617795,nssv1617750,nssv1617771,nssv1617806 M 270 0 61 "" NA06993,NA07034,NA07056,NA07345,NA07348,NA07357,NA10830,NA10854,NA10856,NA10863,NA11829,NA11839,NA11881,NA11882,NA11992,NA11995,NA12145,NA12154,NA12156,NA12234,NA12249,NA12264,NA12751,NA12753,NA12763,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12892,NA18550,NA18552,NA18562,NA18566,NA18570,NA18582,NA18612,NA18632,NA18633,NA18636,NA18858,NA18861,NA18870,NA18940,NA18964,NA19092,NA19094,NA19099,NA19137,NA19138,NA19139,NA19171,NA19192,NA19194,NA19203,NA19206,NA19207,NA19208,NA19223 esv2422091 1 34875241 34880863 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5065650,essv5160747,essv5101794,essv5123282,essv5128137,essv5122040,essv5021016,essv5061612,essv5023849,essv5066682,essv5054883,essv5089133,essv5100815,essv5100007,essv5031856,essv5019836,essv5073095,essv5030610,essv5152476,essv5122351,essv5125045,essv5063361,essv5054112,essv5097140,essv5044338,essv5006930,essv5061851,essv5031426,essv5095728,essv5080690,essv5146925,essv5046773,essv5043462,essv5058708,essv5069261,essv5007150,essv5035657,essv5029122,essv5158290,essv5082307,essv5127008,essv5076095,essv5032936,essv5015066,essv5155019,essv5066310,essv5117775,essv5034585,essv5099758,essv5094681,essv5059359,essv5104255,essv5100341,essv5050001,essv5107245,essv5155472,essv5077926,essv5035493,essv5002846,essv5049889,essv5012029,essv5066872,essv5148240,essv5158294,essv5086476,essv5059648,essv5044945,essv5051055,essv5090758,essv5056965,essv5014723,essv5126455,essv5148665,essv5032805,essv5102747,essv5039338,essv5065098,essv5138524,essv5022114,essv5044591,essv5004171,essv5137350,essv5100934,essv5051575,essv5120273,essv5017119,essv5008006,essv5135987,essv5143522,essv5095113,essv5072436,essv5076707,essv5081074,essv5152596,essv5123331,essv5018780,essv5041477,essv5026816,essv5062426,essv5128919,essv5109643,essv5072649,essv5094315,essv5135509,essv5151621,essv5078719,essv5156574,essv5100714,essv5124441,essv5061839,essv5044326,essv5027449,essv5016096,essv5076930,essv5092792,essv5112317,essv5119576,essv5054733,essv5027526,essv5083084,essv5110657,essv5020020,essv5005842,essv5069035,essv5139012,essv5124550,essv5063436,essv5078345,essv5058619,essv5095052,essv5046582,essv5012801,essv5080889,essv5058108,essv5115531,essv5142758,essv5116283,essv5043757,essv5014715,essv5131045,essv5135585,essv5104277,essv5117395,essv5093135,essv5141281,essv5055276,essv5041405,essv5078515,essv5030341,essv5012186,essv5138703,essv5136799,essv5018069,essv5002809,essv5121587,essv5131138,essv5051506,essv5090629,essv5118275,essv5149906,essv5044536,essv5028088,essv5144292,essv5102019,essv5145647,essv5046658,essv5044735,essv5051811,essv5118220,essv5117486,essv5027975,essv5010219,essv5106068,essv5082754,essv5123031,essv5076121,essv5067966,essv5006536,essv5035746,essv5112045,essv5041588,essv5048243,essv5157296,essv5140562,essv5131067,essv5134202,essv5094208,essv5096541,essv5058389,essv5077086,essv5051329,essv5056215,essv5033796,essv5135363,essv5049488,essv5115252,essv5103589,essv5148545,essv5107416,essv5089503,essv5017112,essv5118087,essv5147293,essv5056262,essv5071735,essv5131276,essv5051221,essv5095850,essv5030860,essv5127762,essv5134632,essv5016222,essv5038399,essv5149077,essv5132508,essv5007480,essv5106134,essv5030971,essv5087018,essv5041738,essv5150440,essv5118529,essv5010301,essv5105716,essv5028872,essv5046052,essv5080212,essv5018448,essv5120843,essv5096860,essv5050635,essv5127877,essv5069167,essv5129814,essv5056393,essv5033697,essv5156600,essv5095660,essv5096667,essv5160957,essv5031408,essv5078571,essv5144804,essv5072057,essv5022634,essv5018078,essv5129127,essv5148825,essv5023645,essv5065479,essv5068275,essv5002230,essv5088458,essv5057014,essv5075462,essv5089519,essv5101634,essv5087710,essv5088494,essv5006844,essv5118463,essv5158912,essv5023666,essv5022709,essv5027320,essv5056269,essv5066826,essv5120430,essv5084194,essv5144539,essv5114540,essv5005201,essv5112939,essv5157891,essv5116978,essv5025099,essv5086158,essv5044538 M 1184 0 278 "" NA06984,NA06993,NA06995,NA06997,NA07014,NA07031,NA07037,NA07045,NA07051,NA07056,NA07345,NA07348,NA07357,NA10830,NA10836,NA10853,NA10854,NA10856,NA10863,NA10864,NA10865,NA11829,NA11839,NA11843,NA11881,NA11882,NA11891,NA11893,NA11992,NA11995,NA12145,NA12154,NA12156,NA12234,NA12249,NA12264,NA12344,NA12347,NA12348,NA12375,NA12376,NA12399,NA12489,NA12751,NA12753,NA12763,NA12766,NA12775,NA12817,NA12828,NA12829,NA12830,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12892,NA17965,NA17976,NA17995,NA17996,NA18101,NA18102,NA18112,NA18138,NA18149,NA18155,NA18484,NA18486,NA18497,NA18499,NA18520,NA18544,NA18548,NA18550,NA18552,NA18562,NA18566,NA18570,NA18582,NA18595,NA18612,NA18626,NA18630,NA18632,NA18633,NA18634,NA18636,NA18638,NA18643,NA18674,NA18702,NA18704,NA18747,NA18858,NA18861,NA18870,NA18940,NA18962,NA18964,NA18977,NA19001,NA19031,NA19036,NA19046,NA19057,NA19080,NA19087,NA19094,NA19095,NA19097,NA19099,NA19107,NA19108,NA19109,NA19117,NA19121,NA19123,NA19137,NA19138,NA19139,NA19147,NA19148,NA19171,NA19174,NA19178,NA19180,NA19181,NA19185,NA19186,NA19192,NA19194,NA19197,NA19199,NA19203,NA19206,NA19207,NA19208,NA19223,NA19224,NA19226,NA19235,NA19237,NA19248,NA19249,NA19308,NA19310,NA19315,NA19316,NA19359,NA19371,NA19373,NA19383,NA19384,NA19390,NA19393,NA19429,NA19430,NA19437,NA19445,NA19446,NA19448,NA19449,NA19452,NA19455,NA19463,NA19472,NA19625,NA19651,NA19652,NA19653,NA19660,NA19664,NA19669,NA19670,NA19671,NA19685,NA19708,NA19714,NA19716,NA19720,NA19721,NA19747,NA19756,NA19757,NA19761,NA19763,NA19774,NA19775,NA19779,NA19783,NA19784,NA19834,NA19836,NA19900,NA19902,NA19916,NA19985,NA20126,NA20276,NA20282,NA20284,NA20357,NA20358,NA20508,NA20534,NA20538,NA20541,NA20544,NA20582,NA20586,NA20588,NA20761,NA20765,NA20768,NA20770,NA20775,NA20783,NA20787,NA20792,NA20795,NA20805,NA20808,NA20828,NA20849,NA20850,NA20853,NA20854,NA20869,NA20903,NA20907,NA20910,NA21098,NA21106,NA21113,NA21118,NA21123,NA21301,NA21311,NA21312,NA21313,NA21314,NA21320,NA21333,NA21339,NA21359,NA21361,NA21362,NA21367,NA21381,NA21383,NA21399,NA21401,NA21403,NA21404,NA21408,NA21423,NA21438,NA21439,NA21447,NA21494,NA21513,NA21514,NA21520,NA21521,NA21522,NA21576,NA21599,NA21601,NA21611,NA21613,NA21617,NA21619,NA21685,NA21686,NA21825 esv2760081 1 34875241 34886855 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005343,essv7005340,essv7005354,essv7005349,essv7005329,essv7005364,essv7005361,essv7005342,essv7005346,essv7005333,essv7005318,essv7005307,essv7005350,essv7005306,essv7005360,essv7005327,essv7005317,essv7005365,essv7005316,essv7005319,essv7005313,essv7005309,essv7005347,essv7005295,essv7005308,essv7005283,essv7005355,essv7005332,essv7005362,essv7005290,essv7005315,essv7005363,essv7005288,essv7005310,essv7005339,essv7005284,essv7005291,essv7005299,essv7005304,essv7005325,essv7005311,essv7005322,essv7005353,essv7005337,essv7005298,essv7005351,essv7005335,essv7005330,essv7005341,essv7005305,essv7005294,essv7005344,essv7005338,essv7005358,essv7005331,essv7005285,essv7005296,essv7005352,essv7005359,essv7005302,essv7005292,essv7005328,essv7005286,essv7005357,essv7005348,essv7005297,essv7005303,essv7005293,essv7005324,essv7005320,essv7005321,essv7005336,essv7005326,essv7005287,essv7005314,essv7005366 M 1109 0 76 "" RW_0003,RW_0005,RW_0007,RW_0008,RW_0012,RW_0014,RW_0022,RW_0023,RW_0029,RW_0031,RW_0041,RW_0053,RW_0067,RW_0072,RW_0077,RW_0085,RW_0099,RW_0103,RW_0106,RW_0122,RW_0123,RW_0128,RW_0131,RW_0132,RW_0136,RW_0137,RW_0140,RW_0142,RW_0143,RW_0144,RW_0147,RW_0156,RW_0158,RW_0164,RW_0166,RW_0168,RW_0173,RW_0175,RW_0179,RW_0183,RW_0185,RW_0186,RW_0187,RW_0189,RW_0193,RW_0203,RW_0209,RW_0210,RW_0212,RW_0227,RW_0246,RW_0249,RW_0255,RW_0256,RW_0257,RW_0260,RW_0266,RW_0284,RW_0296,RW_0309,RW_0316,RW_0326,RW_0327,RW_0333,RW_0341,RW_0357,RW_0359,RW_0529,RW_0579,RW_0587,RW_0595,RW_0606,RW_0611,RW_0612,RW_0623,RW_0648 nsv822276 1 34876536 34884526 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434165,nssv1422366,nssv1435650,nssv1423954 M 31 0 4 "" NA18552,NA18566,NA18570,NA18582 nsv513985 1 34876736 34877140 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2863088,nssv2858004,nssv2858026,nssv2858028,nssv2861638,nssv2858019,nssv2858009,nssv2863339,nssv2865174,nssv2861077,nssv2857971,nssv2863542,nssv2858014,nssv2858664,nssv2858022,nssv2857998,nssv2858002,nssv2863029,nssv2857999,nssv2861437,nssv2857967,nssv2858818,nssv2857989,nssv2858001,nssv2858027,nssv2857970,nssv2857975,nssv2858003,nssv2861337,nssv2865387,nssv2857981,nssv2860378,nssv2858021,nssv2864956,nssv2857992,nssv2860549,nssv2857976,nssv2866890,nssv2858020,nssv2857996,nssv2857969,nssv2858008,nssv2857983,nssv2862459,nssv2868055,nssv2857988,nssv2857990,nssv2859410,nssv2857986,nssv2860735,nssv2857968,nssv2865357,nssv2858010,nssv2857985,nssv2857991,nssv2860025,nssv2857979,nssv2858024,nssv2864771,nssv2865717,nssv2861903,nssv2866301,nssv2860609,nssv2857993,nssv2858018,nssv2858015,nssv2858016,nssv2864822,nssv2857997,nssv2863199,nssv2858013,nssv2866161,nssv2857995,nssv2858012,nssv2857977,nssv2857978,nssv2863157,nssv2858005,nssv2859932,nssv2858023,nssv2863626,nssv2858007,nssv2867255,nssv2868222,nssv2860691,nssv2857987,nssv2858011,nssv2867963,nssv2866546,nssv2857984,nssv2866629,nssv2857980,nssv2866837,nssv2859234,nssv2858025,nssv2858006,nssv2861766,nssv2858000,nssv2858017,nssv2857982,nssv2857972,nssv2857994,nssv2862540,nssv2857974,nssv2857973,nssv2866141,nssv2861845,nssv2865609,nssv2861010 M 2366 0 109 "" NA06995,NA07014,NA07031,NA07037,NA07051,NA10830,NA10836,NA10856,NA10863,NA10864,NA11829,NA11843,NA11893,NA11992,NA12145,NA12234,NA12249,NA12264,NA12274,NA12329,NA12344,NA12347,NA12375,NA12376,NA12399,NA12414,NA12489,NA12751,NA12766,NA12775,NA12817,NA12827,NA12828,NA12829,NA12830,NA12864,NA12872,NA12874,NA12878,NA12892,NA18484,NA18486,NA18488,NA18497,NA18499,NA18550,NA18552,NA18562,NA18566,NA18570,NA18612,NA18633,NA18861,NA18907,NA18964,NA19094,NA19095,NA19097,NA19099,NA19107,NA19108,NA19109,NA19117,NA19121,NA19123,NA19137,NA19138,NA19147,NA19148,NA19174,NA19178,NA19180,NA19181,NA19186,NA19190,NA19192,NA19194,NA19197,NA19199,NA19206,NA19208,NA19223,NA19224,NA19237,NA19248,NA19249,NA19252,NA21301,NA21312,NA21313,NA21359,NA21361,NA21362,NA21381,NA21383,NA21399,NA21401,NA21403,NA21404,NA21423,NA21438,NA21439,NA21447,NA21477,NA21494,NA21514,NA21599,NA21601,NA21686 nsv438366 1 34876909 34880863 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv470074,nssv470407,nssv469629,nssv470185,nssv469851,nssv470296,nssv469740,nssv469963 M 269 0 8 "" NA10830,NA10854,NA11839,NA12154,NA12753,NA12763,NA12878,NA12892 nsv516954 1 34879856 34880863 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv678549,nssv689139,nssv653936,nssv657434,nssv662596,nssv657451,nssv660609,nssv688198,nssv667647,nssv657127,nssv676478,nssv658164,nssv663637,nssv662263,nssv684981,nssv684742,nssv664843,nssv690846,nssv674550,nssv686521,nssv657679,nssv692397,nssv676247,nssv680832,nssv692641,nssv653496 M 2026 0 26 "" dgv226n54 1 34879856 34883734 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545977,nsv545976,nsv545970,nsv545969,nsv545975,nsv545968,nsv545971 M 17421 0 31 "" dgv227n54 1 34879856 34884410 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545983,nsv545984,nsv545978,nsv545979,nsv545973,nsv545972 M 17421 0 95 "" dgv228n54 1 34879856 34885771 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545974,nsv545985,nsv545980 M 17421 0 4 "" dgv229n54 1 34880863 34883734 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545981,nsv545982,nsv545986 M 17421 0 9 "" dgv230n54 1 34881477 34884410 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545989,nsv545987,nsv545990,nsv545988 M 17421 0 19 "" esv275560 1 34891253 34894026 CNV gain+loss Banerjee_et_al_2011 21479260 SNP array essv2586164,essv2585833 M 1250 1 1 "" esv29315 1 34954800 34956844 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv16964 M 40 1 0 "" NA06985 nsv947426 1 34998713 35020553 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2759632 M 97 1 0 GJB3,GJB4 HGDP00998 esv1494656 1 35015905 35015905 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3784790 M 2 1 0 "" HuRef esv1201116 1 35015937 35015937 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4176670 M 2 1 0 "" HuRef nsv1012995 1 35024256 35122841 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700646 M 29084 1 0 DLGAP3,GJA4,GJB3,SMIM12 esv1003104 1 35028945 35033854 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565781 M 3 0 1 GJA4 HuRef nsv945876 1 35033317 35033998 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759364,nssv1758786,nssv1758803,nssv1759397,nssv1759384,nssv1759396,nssv1759373,nssv1758777,nssv1759372,nssv1758782,nssv1759374,nssv1759385,nssv1759379,nssv1758792,nssv1759369,nssv1759390,nssv1758805,nssv1759380,nssv1759359,nssv1758799,nssv1758801,nssv1759381,nssv1759371,nssv1759355,nssv1759368,nssv1759392,nssv1759375,nssv1758818,nssv1759366,nssv1759395,nssv1759367,nssv1759394,nssv1759358,nssv1758813,nssv1759386,nssv1759393,nssv1758802,nssv1758787,nssv1758809,nssv1758797,nssv1759377,nssv1758778,nssv1759361,nssv1758814,nssv1759383,nssv1758796,nssv1759370,nssv1759403,nssv1758808,nssv1759389,nssv1759356,nssv1758816,nssv1758810,nssv1758798,nssv1759365,nssv1758795,nssv1759360,nssv1758790,nssv1758806,nssv1758793,nssv1759363,nssv1759388,nssv1758804,nssv1759402,nssv1758807,nssv1759378,nssv1759362,nssv1758820,nssv1759357,nssv1758781,nssv1759376,nssv1758783,nssv1758784,nssv1758811,nssv1758812,nssv1759391,nssv1758774,nssv1758800,nssv1758779,nssv1758794,nssv1759401,nssv1758791,nssv1759387,nssv1758776,nssv1758789,nssv1758788,nssv1759398,nssv1758819,nssv1758817,nssv1759382,nssv1759399,nssv1759404,nssv1758785,nssv1758775,nssv1759400,nssv1758780,nssv1758815 M 97 10 0 GJA4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv4188 1 35040365 35040824 CNV loss Wang_et_al_2008 18987735 Sequencing essv26629 M 1 0 1 "" YH nsv545991 1 35040424 35051763 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712316,nssv712315,nssv712318,nssv712317,nssv712313,nssv712314 M 17421 0 6 "" esv23746 1 35073744 35074245 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv21340 M 40 0 1 "" NA12749 nsv476831 1 35110519 35110519 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018847 M 9 1 0 DLGAP3 NA12878 esv3402535 1 35180441 35180501 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898762 M 185 1 0 "" NA12717 esv3305762 1 35180460 35180461 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7757693 M 185 1 0 "" NA12717 nsv411 1 35181003 35213514 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2058 M 9 1 0 "" NA18555 nsv511093 1 35228973 35254861 OTHER complex Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv624359 M 4 0 0 ZMYM6 NA18994 nsv508138 1 35235115 35254861 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv620128 M 4 0 1 ZMYM6 NA15510 esv2448755 1 35287381 35289073 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5242554 M 1 0 1 "" NA18507 esv2012538 1 35288122 35289061 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4802032 M 1 0 1 "" NA18507 nsv422 1 35352348 35356053 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2066 M 9 1 0 ZMYM1 NA18555 nsv945877 1 35360118 35361120 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758824,nssv1759832,nssv1758839,nssv1758868,nssv1758836,nssv1759810,nssv1758828,nssv1758862,nssv1758838,nssv1759814,nssv1758840,nssv1759809,nssv1758825,nssv1758861,nssv1759830,nssv1759812,nssv1759825,nssv1759807,nssv1758823,nssv1758864,nssv1758827,nssv1758857,nssv1758841,nssv1759802,nssv1758837,nssv1758860,nssv1759823,nssv1758863,nssv1758833,nssv1759820,nssv1758850,nssv1758869,nssv1758830,nssv1759816,nssv1758849,nssv1759818,nssv1758843,nssv1759808,nssv1759831,nssv1759839,nssv1758829,nssv1759817,nssv1758822,nssv1759799,nssv1758831,nssv1759835,nssv1759829,nssv1758865,nssv1759824,nssv1758867,nssv1759826,nssv1759815,nssv1758835,nssv1759836,nssv1758834,nssv1759803,nssv1758832,nssv1759801,nssv1758845,nssv1759819,nssv1758852,nssv1758848,nssv1759828,nssv1759811,nssv1758842,nssv1759813,nssv1758826,nssv1759833,nssv1759827,nssv1759798,nssv1759822,nssv1758847,nssv1759840,nssv1758846,nssv1758866,nssv1758856,nssv1759806,nssv1758870,nssv1758851,nssv1759797,nssv1758853,nssv1759838,nssv1759834,nssv1758858,nssv1759821,nssv1758871,nssv1759804,nssv1758821,nssv1759796,nssv1759805,nssv1758844,nssv1758854,nssv1759837,nssv1759800,nssv1759841,nssv1758855,nssv1758859 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv509191 1 35361726 35409283 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv617993 M 4 1 0 "" CHM nsv512736 1 35395196 35395413 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625362 M 1 1 0 "" 1 esv1688473 1 35395258 35395258 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3937525 M 2 1 0 "" HuRef nsv508149 1 35425375 35523857 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618971 M 4 0 1 SFPQ,ZMYM4 NA10860 nsv818134 1 35482364 35514250 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417263 M 112 0 1 ZMYM4 NA18593 nsv822287 1 35553084 35553673 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423955 M 31 1 0 ZMYM4 NA18582 esv8737 1 35569556 35569700 CNV gain Ahn_et_al_2009 19470904 Sequencing essv31178 M 1 0 0 ZMYM4 nsv822298 1 35587625 35588785 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1436334 M 31 0 1 ZMYM4 NA18542 nsv945878 1 35588914 35591979 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759863,nssv1759883,nssv1759850,nssv1759935,nssv1759847,nssv1759902,nssv1759920,nssv1759892,nssv1759853,nssv1759901,nssv1759857,nssv1759932,nssv1759860,nssv1759865,nssv1759852,nssv1759918,nssv1759861,nssv1759906,nssv1759855,nssv1759891,nssv1759846,nssv1759938,nssv1759858,nssv1759934,nssv1759856,nssv1759913,nssv1759927,nssv1759911,nssv1759845,nssv1759909,nssv1759873,nssv1759897,nssv1759925,nssv1759868,nssv1759864,nssv1759872,nssv1759926,nssv1759875,nssv1759871,nssv1759878,nssv1759866,nssv1759904,nssv1759843,nssv1759900,nssv1759870,nssv1759879,nssv1759859,nssv1759882,nssv1759923,nssv1759931,nssv1759919,nssv1759867,nssv1759851,nssv1759905,nssv1759854,nssv1759915,nssv1759921,nssv1759929,nssv1759922,nssv1759880,nssv1759848,nssv1759884,nssv1759862,nssv1759914,nssv1759928,nssv1759886,nssv1759849,nssv1759907,nssv1759924,nssv1759936,nssv1759844,nssv1759908,nssv1759937,nssv1759917,nssv1759899,nssv1759881,nssv1759933,nssv1759842,nssv1759887,nssv1759912,nssv1759930,nssv1759877,nssv1759916,nssv1759890,nssv1759896,nssv1759895,nssv1759876,nssv1759874,nssv1759888,nssv1759889,nssv1759898,nssv1759903,nssv1759893,nssv1759894,nssv1759910,nssv1759869,nssv1759885 M 97 10 0 ZMYM4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1012556 1 35651892 35941848 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473323 M 29084 1 0 KIAA0319L,NCDN,PSMB2,TFAP2E,ZMYM4 esv32554 1 35656892 35666141 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv100050 M 51 0 1 ZMYM4 22086 nsv945879 1 35658942 35660086 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759953,nssv1759990,nssv1759944,nssv1759980,nssv1759941,nssv1759993,nssv1760020,nssv1759998,nssv1759968,nssv1759962,nssv1760019,nssv1760032,nssv1759958,nssv1759988,nssv1759960,nssv1760007,nssv1760016,nssv1759995,nssv1759955,nssv1759966,nssv1759947,nssv1760014,nssv1759942,nssv1759971,nssv1759943,nssv1760035,nssv1760017,nssv1759989,nssv1759948,nssv1760006,nssv1759961,nssv1760015,nssv1759957,nssv1759991,nssv1759954,nssv1759965,nssv1759950,nssv1760001,nssv1760024,nssv1760003,nssv1759970,nssv1759969,nssv1759940,nssv1760010,nssv1760023,nssv1759994,nssv1759967,nssv1760031,nssv1760025,nssv1759975,nssv1759952,nssv1760008,nssv1759956,nssv1759999,nssv1759946,nssv1760028,nssv1760018,nssv1760002,nssv1759951,nssv1759972,nssv1760022,nssv1759964,nssv1759949,nssv1760012,nssv1759945,nssv1760026,nssv1759963,nssv1759982,nssv1760021,nssv1759997,nssv1759959,nssv1759939,nssv1759984,nssv1759983,nssv1760033,nssv1760011,nssv1760027,nssv1759996,nssv1759973,nssv1760004,nssv1759974,nssv1759977,nssv1759987,nssv1760029,nssv1759976,nssv1760013,nssv1760005,nssv1759981,nssv1760034,nssv1759992,nssv1760030,nssv1760009,nssv1759979,nssv1759986,nssv1759985,nssv1760000,nssv1759978 M 97 10 0 ZMYM4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv33735 1 35671707 35672683 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv99911 M 51 1 0 KIAA0319L 22086 nsv433 1 35820645 35865600 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9000 M 9 0 1 PSMB2,TFAP2E NA12156 esv3335001 1 35827052 35829950 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692309 M 185 1 0 TFAP2E NA19240 nsv834680 1 35898809 36130404 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444551 M 95 1 0 AGO1,AGO4,C1orf216,CLSPN nsv525430 1 36014615 36098783 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701556 M 2026 0 1 AGO4 nsv524683 1 36067219 36098783 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700654 M 2026 0 1 AGO4 nsv471862 1 36127382 36127382 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013037 M 9 1 0 AGO1 NA18555 nsv526837 1 36140367 36152720 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703194 M 2026 0 1 AGO1 nsv478018 1 36147339 36147339 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019007 M 9 1 0 AGO1 NA18517 dgv149n100 1 36185347 36270262 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002702,nsv1008562 M 29084 0 2 AGO3 nsv1009033 1 36188089 36241719 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482483 M 29084 0 1 AGO3 nsv1009992 1 36188089 36247981 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469781,nssv3463535 M 29084 1 1 AGO3 nsv998713 1 36195130 36246785 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479335 M 29084 1 0 AGO3 esv3435241 1 36247257 36247276 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593891 M 185 1 0 AGO3 NA18970 esv3305175 1 36247264 36247265 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7783245,essv7803705,essv7811080,essv7792022,essv7823185,essv7792849,essv7830912,essv7796143,essv7773424,essv7771530,essv7803961,essv7820854,essv7831975,essv7794426,essv7785756,essv7826793,essv7834588,essv7815543,essv7779060,essv7784603,essv7791401,essv7774912,essv7786301,essv7787272,essv7816524,essv7807597,essv7781898,essv7783169,essv7828265,essv7826354,essv7786745,essv7807020,essv7823512,essv7772990,essv7814638,essv7795063,essv7778399,essv7770166,essv7829273,essv7788319,essv7830527,essv7793477,essv7797139,essv7782369,essv7796570,essv7790991,essv7828923,essv7822139,essv7779723,essv7823714,essv7822663,essv7775819,essv7811187,essv7780452,essv7818033,essv7798307,essv7831468 M 185 57 0 AGO3 NA18486,NA18498,NA18502,NA18519,NA18520,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18909,NA18916,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19108,NA19137,NA19138,NA19225,NA19238,NA19240 esv3371096 1 36247265 36247280 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898787,essv8898770,essv8898763,essv8898786,essv8898776,essv8898806,essv8898795,essv8898788,essv8898798,essv8898764,essv8898805,essv8898803,essv8898813,essv8898771,essv8898777,essv8898765,essv8898772,essv8898799,essv8898790,essv8898816,essv8898817,essv8898818,essv8898808,essv8898791,essv8898773,essv8898812,essv8898775,essv8898811,essv8898768,essv8898783,essv8898802,essv8898809,essv8898794,essv8898801,essv8898796,essv8898814,essv8898797,essv8898820,essv8898792,essv8898822,essv8898785,essv8898810,essv8898821,essv8898766,essv8898767,essv8898823,essv8898789,essv8898800,essv8898784,essv8898778,essv8898774,essv8898819,essv8898779,essv8898807 M 185 54 0 AGO3 NA18486,NA18498,NA18502,NA18519,NA18520,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18909,NA18916,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA19005,NA19108,NA19137,NA19138,NA19225 esv3335594 1 36247273 36247283 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674012,essv8674013 M 185 2 0 AGO3 NA19238,NA19240 esv3309407 1 36247274 36247275 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7837169 M 185 1 0 AGO3 NA19239 nsv159158 1 36247282 36247282 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv177736 M 24 AGO3 nsv518844 1 36269936 36304903 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694280 M 2026 0 1 AGO3 nsv834691 1 36297325 36476728 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444562,nssv1444573 M 95 0 2 ADPRHL2,COL8A2,MAP7D1,TEKT2,THRAP3,TRAPPC3 esv3329704 1 36329452 36331650 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692312 M 185 1 0 ADPRHL2 NA19239 nsv545992 1 36329454 36399778 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712319 M 17421 0 1 ADPRHL2,COL8A2,MAP7D1,TRAPPC3 nsv471895 1 36352700 36352700 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013618 M 9 1 0 "" NA18555 esv3332926 1 36359907 36359915 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863689 M 185 1 0 "" NA12005 nsv545993 1 36364199 36425206 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712320 M 17421 0 1 MAP7D1,TRAPPC3 nsv10106 1 36373014 36389894 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv13748 M 31 1 0 TRAPPC3 NA12155 nsv545994 1 36385967 36482625 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712322,nssv712321 M 17421 0 2 MAP7D1,THRAP3,TRAPPC3 nsv545995 1 36388256 36524997 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712323,nssv712324 M 17421 0 2 MAP7D1,THRAP3,TRAPPC3 esv2758931 1 36392726 36659675 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757729 M 270 0 1 EVA1B,LSM10,MAP7D1,OSCP1,SH3D21,STK40,THRAP3,TRAPPC3 NA12802 nsv545996 1 36414316 36422642 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712325 M 17421 1 0 MAP7D1 nsv834702 1 36428818 36629919 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444584 M 95 0 1 EVA1B,SH3D21,STK40,THRAP3 nsv159975 1 36442938 36447154 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178553 M 24 "" esv1470236 1 36448916 36448916 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4103019 M 2 1 0 "" HuRef nsv545997 1 36466061 36568017 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712326 M 17421 0 1 EVA1B,SH3D21,THRAP3 esv2544592 1 36505647 36507205 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5335271 M 1 0 1 THRAP3 NA18507 esv2045078 1 36505769 36506259 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4505438 M 1 0 1 THRAP3 NA18507 esv2125715 1 36521628 36522091 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4852306 M 1 0 1 THRAP3 NA18507 esv1002750 1 36521805 36521856 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3579615 M 3 0 1 THRAP3 HuRef esv1414937 1 36521856 36521908 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4244589 M 2 0 1 THRAP3 HuRef nsv160040 1 36521857 36521908 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178618 M 24 THRAP3 nsv444 1 36523762 36568167 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2067 M 9 0 1 EVA1B,SH3D21,THRAP3 NA18555 nsv945880 1 36524609 36525609 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760041,nssv1760074,nssv1760054,nssv1761051,nssv1761038,nssv1760081,nssv1760055,nssv1760084,nssv1760060,nssv1761030,nssv1761046,nssv1761047,nssv1760046,nssv1761054,nssv1761039,nssv1761034,nssv1760052,nssv1760097,nssv1761042,nssv1760078,nssv1760049,nssv1761029,nssv1761041,nssv1760083,nssv1760043,nssv1760071,nssv1760044,nssv1760093,nssv1761043,nssv1760073,nssv1760057,nssv1761035,nssv1760050,nssv1760075,nssv1760040,nssv1760070,nssv1760058,nssv1761032,nssv1760047,nssv1760095,nssv1761037,nssv1760087,nssv1761040,nssv1760082,nssv1760048,nssv1760059,nssv1760038,nssv1760088,nssv1760051,nssv1760076,nssv1760037,nssv1760085,nssv1760039,nssv1760103,nssv1760045,nssv1760101,nssv1761044,nssv1760090,nssv1760053,nssv1760089,nssv1761045,nssv1760063,nssv1760064,nssv1761055,nssv1760042,nssv1760068,nssv1760065,nssv1760096,nssv1760067,nssv1761036,nssv1760056,nssv1761031,nssv1760077,nssv1761050,nssv1761028,nssv1761048,nssv1760086,nssv1760066,nssv1760079,nssv1761049,nssv1760091,nssv1760094,nssv1760062,nssv1760080,nssv1760099,nssv1761052,nssv1760092,nssv1760098,nssv1760100,nssv1761033,nssv1761056,nssv1760069,nssv1760072,nssv1761053,nssv1760036,nssv1760061,nssv1760102 M 97 10 0 THRAP3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945882 1 36542361 36543330 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761086,nssv1761099,nssv1761069,nssv1761120,nssv1761078,nssv1761107,nssv1761085,nssv1761131,nssv1761062,nssv1761119,nssv1761074,nssv1761123,nssv1761066,nssv1761084,nssv1761135,nssv1761133,nssv1761077,nssv1761092,nssv1761076,nssv1761113,nssv1761075,nssv1761100,nssv1761136,nssv1761103,nssv1761064,nssv1759091,nssv1761073,nssv1761082,nssv1761070,nssv1759095,nssv1761067,nssv1761098,nssv1759082,nssv1761087,nssv1761065,nssv1761106,nssv1759083,nssv1761089,nssv1761072,nssv1761080,nssv1761079,nssv1761097,nssv1761137,nssv1761132,nssv1759085,nssv1761090,nssv1761058,nssv1761116,nssv1761138,nssv1761114,nssv1761061,nssv1761101,nssv1761068,nssv1761129,nssv1761059,nssv1761122,nssv1761081,nssv1761104,nssv1761060,nssv1761105,nssv1761134,nssv1761112,nssv1761088,nssv1761124,nssv1759081,nssv1761102,nssv1761063,nssv1761093,nssv1761071,nssv1761083,nssv1759084,nssv1759094,nssv1761126,nssv1761118,nssv1761109,nssv1761127,nssv1759090,nssv1759087,nssv1761057,nssv1761111,nssv1761094,nssv1761117,nssv1761128,nssv1759088,nssv1761130,nssv1759092,nssv1761095,nssv1761108,nssv1761125,nssv1759093,nssv1761121,nssv1761115,nssv1761091,nssv1761096,nssv1759086,nssv1759089,nssv1761110 M 97 10 0 THRAP3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv524394 1 36562133 36620353 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700312 M 2026 0 1 EVA1B,STK40 nsv475537 1 36609646 36609646 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017337 M 9 1 0 STK40 NA19240 nsv545998 1 36632339 36637289 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712327 M 17421 0 1 LSM10 nsv545999 1 36632339 36639950 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712328 M 17421 0 1 LSM10 nsv509202 1 36671474 36728356 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619791 M 4 1 0 CSF3R,MRPS15,OSCP1 NA10860 esv3365853 1 36692352 36694250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692313 M 185 1 0 MRPS15 NA19239 nsv461073 1 36697263 36733213 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537522 M 1557 0 1 CSF3R,MRPS15 1780862529_A nsv546000 1 36697263 36733213 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173814 M 17421 0 1 CSF3R,MRPS15 1780862529_A nsv520839 1 36700320 36748840 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697643 M 2026 0 1 CSF3R,MRPS15 esv1178181 1 36782350 36782418 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3795450 M 2 0 1 "" HuRef nsv509213 1 36797080 36870829 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619792 M 4 1 0 "" NA10860 dgv75e59 1 36806352 36808050 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3380322,esv3383797,esv3377766 M 185 3 0 "" NA19238,NA19239,NA19240 esv3414335 1 36851352 36852750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692317 M 185 1 0 "" NA19240 nsv455 1 36900295 36933595 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9005 M 9 1 0 "" NA12156 nsv546001 1 36930532 37079868 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712329 M 17421 0 1 GRIK3 esv1494805 1 36938559 36938652 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3894677 M 2 0 1 "" HuRef nsv1003721 1 36954983 37087982 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700647 M 29084 1 0 GRIK3 esv3402915 1 36984244 36984263 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593913,essv9593902 M 185 2 0 "" NA11931,NA12815 esv3306764 1 36984246 36984247 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7767289,essv7765730 M 185 2 0 "" NA11931,NA12815 nsv478300 1 37000655 37000655 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017864 M 9 1 0 "" NA18507 esv2477261 1 37031693 37032214 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5280316 M 1 1 0 "" NA18507 nsv473098 1 37055776 37055776 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012125 M 9 1 0 GRIK3 NA19129 nsv834713 1 37117119 37281540 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444595 M 95 1 0 GRIK3 nsv522473 1 37175999 37188856 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705838 M 2026 0 1 GRIK3 esv2553528 1 37194989 37198175 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5325318 M 1 0 1 GRIK3 NA18507 esv2538711 1 37195105 37195892 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5264336 M 1 1 0 GRIK3 NA18507 esv1102722 1 37195642 37195642 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4046400 M 2 1 0 GRIK3 HuRef esv3151 1 37195932 37196389 CNV loss Wang_et_al_2008 18987735 Sequencing essv25592 M 1 0 1 GRIK3 YH esv2459868 1 37196379 37199082 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5370743 M 1 0 1 GRIK3 NA18507 esv7566 1 37196592 37198618 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30007 M 1 0 0 GRIK3 esv2906 1 37196734 37198627 CNV loss Wang_et_al_2008 18987735 Sequencing essv25347 M 1 0 1 GRIK3 YH esv23328 1 37196768 37198598 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10789 M 40 0 5 GRIK3 NA11931,NA12828,NA18511,NA18517,NA19240 nsv821045 1 37196768 37198598 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420303 M 1 1 0 GRIK3 NA10851 nsv546002 1 37197149 37197926 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712331,nssv712330,nssv712332,nssv712335,nssv712334,nssv712333 M 17421 0 6 GRIK3 dgv231n54 1 37197149 37198329 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546007,nsv546009,nsv546008,nsv546003 M 17421 0 6 GRIK3 dgv232n54 1 37197149 37198462 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546005,nsv546010,nsv546006,nsv546004 M 17421 5 0 GRIK3 nsv546011 1 37197628 37197806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712347 M 17421 0 1 GRIK3 nsv546012 1 37197628 37197926 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712351,nssv712350,nssv712355,nssv712354,nssv712352,nssv712353,nssv712348,nssv712358,nssv712349,nssv712357,nssv712356,nssv712359 M 17421 0 12 GRIK3 nsv546013 1 37197720 37197926 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712360 M 17421 0 1 GRIK3 nsv466 1 37224605 37269238 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9013 M 9 0 1 GRIK3 NA12156 nsv834724 1 37281599 37442774 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444606 M 95 1 0 MIR4255 nsv509224 1 37306794 37427815 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619793 M 4 1 0 MIR4255 NA10860 nsv479121 1 37344371 37344371 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016105 M 9 0 0 "" nsv511689 1 37360718 37365223 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626328 M 1 0 1 "" 1 dgv150n100 1 37405411 37460005 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003408,nsv997970,nsv1001914 M 29084 0 7 "" nsv999872 1 37408091 37440282 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463095 M 29084 0 1 "" dgv233n54 1 37408091 37456506 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546014,nsv546017 M 17421 0 2 "" nsv521436 1 37408091 37456506 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698046 M 2026 0 1 "" dgv234n54 1 37408091 37475919 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546015,nsv546016 M 17421 0 2 "" nsv477 1 37429025 37474144 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9019 M 9 0 1 "" NA12156 esv3352531 1 37459746 37459765 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593946 M 185 1 0 "" NA12043 nsv488 1 37465939 37499591 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1081 M 9 1 0 "" NA19240 nsv834735 1 37519245 37681373 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444617,nssv1444629 M 95 0 2 "" esv3429940 1 37560033 37560033 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740970 M 185 1 0 "" NA19240 esv3356635 1 37574311 37574311 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740971 M 185 1 0 "" NA19240 nsv499 1 37578710 37589060 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4120 M 9 1 0 "" NA12878 esv5617 1 37588957 37589426 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28058 M 1 0 0 "" dgv32n67 1 37588994 37590035 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv822309,nsv822320 M 31 2 0 "" AK4,NA18570 esv4797 1 37589017 37589379 CNV loss Wang_et_al_2008 18987735 Sequencing essv27238 M 1 0 1 "" YH nsv160102 1 37589061 37589299 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178680 M 24 "" nsv519697 1 37637498 37638930 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696998 M 2026 0 1 "" esv2574190 1 37684179 37684696 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5390348 M 1 1 0 "" NA18507 nsv519551 1 37729963 37747866 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv656832,nssv684557 M 2026 2 0 MEAF6,MIR5581 nsv524834 1 37734200 37824172 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv700835 M 2026 1 0 DNALI1,GNL2,MEAF6,MIR5581,SNIP1 nsv476724 1 37747751 37747751 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011429 M 9 1 0 MEAF6 NA12878 nsv834746 1 37775539 37939913 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444640 M 95 0 1 C1orf109,CDCA8,DNALI1,GNL2,RSPO1,SNIP1 nsv945883 1 37783204 37795307 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759120,nssv1759156,nssv1759114,nssv1759142,nssv1759115,nssv1759145,nssv1759113,nssv1759172,nssv1759105,nssv1759160,nssv1759116,nssv1759119,nssv1759112,nssv1759155,nssv1759174,nssv1759157,nssv1759109,nssv1759165,nssv1759107,nssv1760115,nssv1759102,nssv1759140,nssv1759177,nssv1760108,nssv1759108,nssv1759154,nssv1759118,nssv1759169,nssv1759175,nssv1759121,nssv1759124,nssv1760113,nssv1759125,nssv1759141,nssv1759127,nssv1759126,nssv1759097,nssv1759152,nssv1759179,nssv1759137,nssv1760104,nssv1760116,nssv1759103,nssv1759163,nssv1760106,nssv1759146,nssv1759098,nssv1759130,nssv1760105,nssv1759147,nssv1759173,nssv1759122,nssv1759111,nssv1759171,nssv1759106,nssv1759128,nssv1759099,nssv1759139,nssv1759178,nssv1760112,nssv1759100,nssv1759167,nssv1759176,nssv1759150,nssv1759110,nssv1759136,nssv1759117,nssv1759134,nssv1759104,nssv1759168,nssv1759101,nssv1759153,nssv1759131,nssv1759151,nssv1759133,nssv1759096,nssv1759161,nssv1760114,nssv1759166,nssv1760109,nssv1759159,nssv1759135,nssv1759123,nssv1759129,nssv1759149,nssv1759144,nssv1759132,nssv1759158,nssv1760107,nssv1759138,nssv1759143,nssv1759170,nssv1759148,nssv1759162,nssv1759164,nssv1760110,nssv1760111 M 97 10 0 DNALI1,SNIP1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv988200 1 37848507 37848963 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564472 M 3 1 0 "" HuRef esv3503 1 37849886 37850106 CNV loss Wang_et_al_2008 18987735 Sequencing essv25944 M 1 0 1 RSPO1 YH esv992523 1 37849936 37850006 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3585401 M 3 0 1 RSPO1 HuRef nsv160858 1 37849937 37850007 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179436 M 24 RSPO1 nsv527629 1 37894521 37899741 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704097 M 2026 0 1 "" esv3450650 1 37905352 37907550 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692321 M 185 1 0 "" NA19239 nsv819737 1 37919829 37920400 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419008 M 2 0 1 C1orf109 AK1 nsv472046 1 37935282 37935282 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011990 M 9 1 0 CDCA8 NA18555 nsv519553 1 37961428 37965124 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv658587,nssv676228,nssv694242,nssv656833,nssv678161 M 2026 0 5 EPHA10 nsv525226 1 37961428 38000803 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701315 M 2026 0 1 EPHA10 esv2276987 1 37980649 37981175 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4970243 M 1 0 1 EPHA10 NA18507 esv1005346 1 37980833 37980995 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3581260 M 3 0 1 EPHA10 HuRef esv994797 1 38011913 38013559 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565333 M 3 1 0 "" HuRef nsv510 1 38052636 38118191 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1091,nssv5491 M 9 2 0 INPP5B,MTF1 NA19129,NA19240 nsv506927 1 38055332 38061332 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619232,nssv623268,nssv620652 M 4 0 0 MTF1 NA10860,NA15510,NA18994 nsv945884 1 38079093 38082369 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760195,nssv1760187,nssv1760127,nssv1760143,nssv1760122,nssv1760208,nssv1760199,nssv1760204,nssv1760148,nssv1760184,nssv1760135,nssv1760182,nssv1760124,nssv1760207,nssv1760136,nssv1760180,nssv1760126,nssv1760169,nssv1760197,nssv1760183,nssv1760125,nssv1760191,nssv1760133,nssv1760173,nssv1760131,nssv1760142,nssv1760121,nssv1760164,nssv1760146,nssv1760192,nssv1760202,nssv1760140,nssv1760194,nssv1760165,nssv1760200,nssv1760162,nssv1760141,nssv1760189,nssv1760139,nssv1760176,nssv1760119,nssv1760161,nssv1760118,nssv1760159,nssv1760132,nssv1760212,nssv1760201,nssv1760156,nssv1760138,nssv1760152,nssv1760134,nssv1760174,nssv1760145,nssv1760151,nssv1760120,nssv1760205,nssv1760203,nssv1760155,nssv1760129,nssv1760178,nssv1760198,nssv1760163,nssv1760137,nssv1760144,nssv1760196,nssv1760150,nssv1760128,nssv1760154,nssv1760123,nssv1760213,nssv1760130,nssv1760153,nssv1760117,nssv1760171,nssv1760170,nssv1760168,nssv1760166,nssv1760188,nssv1760185,nssv1760149,nssv1760209,nssv1760147,nssv1760158,nssv1760172,nssv1760157,nssv1760175,nssv1760167,nssv1760193,nssv1760177,nssv1760211,nssv1760190,nssv1760206,nssv1760160,nssv1760210,nssv1760179,nssv1760186,nssv1760181 M 97 10 0 MTF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv472321 1 38126019 38126019 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011634 M 9 1 0 INPP5B NA18555 esv1640356 1 38135235 38135284 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3871016 M 2 0 1 INPP5B HuRef nsv1008462 1 38176625 38220924 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477463 M 29084 1 0 INPP5B,SF3A3 nsv945885 1 38195552 38196550 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760227,nssv1760255,nssv1760297,nssv1760308,nssv1760219,nssv1760256,nssv1760233,nssv1760282,nssv1760232,nssv1760278,nssv1760294,nssv1760274,nssv1760293,nssv1760285,nssv1760226,nssv1760263,nssv1760223,nssv1760290,nssv1760230,nssv1760257,nssv1760245,nssv1760214,nssv1760224,nssv1760276,nssv1760220,nssv1760264,nssv1760296,nssv1760280,nssv1760228,nssv1760289,nssv1760299,nssv1760283,nssv1760221,nssv1760244,nssv1760236,nssv1760279,nssv1760217,nssv1760259,nssv1760218,nssv1760270,nssv1760292,nssv1760304,nssv1760298,nssv1760301,nssv1760238,nssv1760240,nssv1760215,nssv1760239,nssv1760234,nssv1760273,nssv1760231,nssv1760305,nssv1760291,nssv1760262,nssv1760216,nssv1760237,nssv1760222,nssv1760286,nssv1760242,nssv1760303,nssv1760229,nssv1760288,nssv1760295,nssv1760252,nssv1760235,nssv1760277,nssv1760300,nssv1760247,nssv1760225,nssv1760284,nssv1760243,nssv1760241,nssv1760258,nssv1760302,nssv1760307,nssv1760250,nssv1760271,nssv1760261,nssv1760248,nssv1760253,nssv1760281,nssv1760269,nssv1760309,nssv1760266,nssv1760287,nssv1760265,nssv1760267,nssv1760310,nssv1760254,nssv1760251,nssv1760260,nssv1760268,nssv1760246,nssv1760275,nssv1760249,nssv1760272,nssv1760306 M 97 10 0 SF3A3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv822331 1 38201189 38202698 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1430339 M 31 0 1 SF3A3 AK16 esv3417422 1 38220294 38220313 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593957 M 185 1 0 SF3A3 NA12815 nsv522 1 38265239 38299785 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2925 M 9 1 0 POU3F1 NA18555 nsv521856 1 38265491 38272230 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694630 M 2026 0 1 "" esv3302766 1 38356355 38356513 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7736661,essv7732953,essv7735590 M 185 0 0 "" NA18563,NA18577,NA18582 nsv546018 1 38368451 38376972 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712365 M 17421 0 1 "" dgv235n54 1 38374660 38377135 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546021,nsv546020,nsv546019 M 17421 0 5 "" esv26787 1 38375147 38377167 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv21222 M 40 0 1 "" NA12828 dgv236n54 1 38375225 38377135 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546027,nsv546026,nsv546022,nsv546028,nsv546025,nsv546023,nsv546031,nsv546024,nsv546030,nsv546032 M 17421 0 35 "" nsv546029 1 38375384 38376453 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712403 M 17421 0 1 "" nsv546033 1 38376133 38377135 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712408,nssv712407 M 17421 0 2 "" nsv441687 1 38414624 38417452 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656627,nssv1656625,nssv1656628,nssv1656626,nssv1656622,nssv1656623,nssv1656624 M 270 0 7 "" NA18523,NA18852,NA18913,NA18914,NA19119,NA19120,NA19159 esv24918 1 38414777 38417685 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11024 M 40 0 1 "" NA18523 nsv519358 1 38443993 38445830 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694325 M 2026 0 1 "" nsv834757 1 38449737 38643479 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444651 M 95 1 0 LOC339442 nsv533 1 38461115 38475672 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9028 M 9 0 1 "" NA12156 nsv544 1 38478334 38484938 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5499 M 9 1 0 "" NA19129 nsv476926 1 38493787 38493787 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015241 M 9 1 0 "" NA12878 nsv834768 1 38534331 38725549 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444662 M 95 1 0 "" esv3440303 1 38556566 38556566 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740972 M 185 1 0 "" NA19240 nsv517641 1 38622926 38625611 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv694835,nssv685154,nssv652648,nssv688984,nssv693048,nssv684558 M 2026 6 0 "" nsv521479 1 38694640 38701079 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv694450 M 2026 1 0 "" nsv473614 1 38713922 38713922 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015462 M 9 1 0 "" NA19129 esv1309666 1 38723326 38723326 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3833922 M 2 1 0 "" HuRef nsv555 1 38755445 38790436 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4141 M 9 1 0 "" NA12878 dgv151n100 1 38784505 38814010 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997481,nsv1007085 M 29084 3 0 "" nsv546034 1 38827144 38857823 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712409 M 17421 1 0 "" nsv546035 1 38853018 38858133 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712410 M 17421 0 1 "" dgv237n54 1 38854416 38860191 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546036,nsv546040 M 17421 0 3 "" nsv511145 1 38854416 38860191 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625711 M 1 0 1 "" 1 nsv546037 1 38854416 38863164 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712412 M 17421 0 1 "" dgv238n54 1 38854820 38858133 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546038,nsv546039 M 17421 0 9 "" nsv508008 1 38855197 38861197 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618492 M 4 0 0 "" CHM nsv511690 1 38856518 38858543 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626329 M 1 0 1 "" 1 dgv33n67 1 38856775 38858166 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822365,nsv822342 M 31 0 5 "" AK18,AK6,NA18526,NA18582,NA18947 nsv822353 1 38856775 38859071 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431803 M 31 0 1 "" AK20 nsv820218 1 38856803 38859937 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419512 M 2 0 1 "" AK1 esv27536 1 38856971 38858162 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15624 M 40 0 2 "" NA06985,NA18858 dgv239n54 1 38856998 38857823 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546042,nsv546043,nsv546041 M 17421 0 4 "" dgv240n54 1 38856998 38858133 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546050,nsv546046,nsv546045,nsv546051,nsv546047,nsv546044 M 17421 0 98 "" nsv546048 1 38856998 38860191 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712523,nssv712522,nssv712521,nssv712524,nssv712525 M 17421 0 5 "" dgv241n54 1 38856998 38863164 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546052,nsv546060,nsv546055,nsv546049 M 17421 0 8 "" dgv242n54 1 38857337 38858133 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546057,nsv546053,nsv546058,nsv546059,nsv546056,nsv546054 M 17421 0 27 "" nsv10117 1 38900923 38910933 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv18773 M 31 0 1 "" NA18972 dgv34n67 1 38901080 38909934 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822387,nsv822376 M 31 0 2 "" NA18968,NA18972 esv2758932 1 38901188 38910242 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756842 M 270 0 3 "" NA18968,NA18972,NA18987 nsv441688 1 38901191 38908792 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656629,nssv1656631,nssv1656630 M 270 0 3 "" NA18968,NA18972,NA18987 nsv514925 1 38901296 38908796 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2866276,nssv2866325,nssv2860612,nssv2867100,nssv2865866,nssv2858817,nssv2859166,nssv2864742,nssv2863152,nssv2858716,nssv2861742,nssv2859768,nssv2858623,nssv2864178,nssv2866948,nssv2858828,nssv2860073,nssv2867804,nssv2862725,nssv2865540,nssv2868207,nssv2866241,nssv2861295,nssv2867719,nssv2859795,nssv2867525,nssv2868485,nssv2866832,nssv2865211,nssv2867042,nssv2860728,nssv2861955,nssv2860079,nssv2867758,nssv2861286,nssv2859026,nssv2867587,nssv2861704,nssv2861886,nssv2859834,nssv2860720,nssv2859383,nssv2859431,nssv2861283,nssv2859564,nssv2868143,nssv2865519,nssv2860895,nssv2862621,nssv2862283,nssv2861667,nssv2861916,nssv2865050,nssv2859318,nssv2860940,nssv2859912,nssv2860152,nssv2868138,nssv2866563,nssv2863193,nssv2862787,nssv2860765,nssv2860298,nssv2858946,nssv2861199,nssv2858890,nssv2867427,nssv2866748,nssv2858670,nssv2858550,nssv2861760,nssv2862496,nssv2864741,nssv2859207,nssv2867518,nssv2860511,nssv2860614,nssv2867348,nssv2858914,nssv2862892,nssv2859900,nssv2863026,nssv2862518,nssv2863162,nssv2859727,nssv2858562,nssv2865473,nssv2858612,nssv2868457,nssv2861908,nssv2859123,nssv2862701,nssv2863189,nssv2862566,nssv2860879,nssv2862384,nssv2860486,nssv2859622,nssv2863009,nssv2866095,nssv2864842,nssv2868073,nssv2868255,nssv2864516,nssv2858568,nssv2862920,nssv2864704,nssv2862511,nssv2865734,nssv2858593,nssv2865610,nssv2858990,nssv2863766,nssv2865761,nssv2865954,nssv2864858,nssv2866537,nssv2867648,nssv2866969,nssv2867753,nssv2859362,nssv2862116,nssv2868320,nssv2860332,nssv2867835,nssv2866233,nssv2865159,nssv2865642,nssv2864387,nssv2861129,nssv2858916,nssv2861591,nssv2865970,nssv2866423,nssv2861555,nssv2861432,nssv2866414,nssv2868175,nssv2867891,nssv2866847,nssv2862046,nssv2868441,nssv2867248,nssv2865374,nssv2863659,nssv2860290,nssv2866906,nssv2864144,nssv2860785,nssv2861726,nssv2863097,nssv2867864,nssv2859612,nssv2867888,nssv2858970,nssv2867860,nssv2861951,nssv2859284,nssv2859152,nssv2862001,nssv2863748,nssv2865920,nssv2862874,nssv2858722,nssv2860749,nssv2863087,nssv2862706,nssv2866992,nssv2859563,nssv2859726,nssv2860664,nssv2862571,nssv2863409,nssv2863336,nssv2864253,nssv2859367,nssv2860094,nssv2862214,nssv2862148,nssv2860241,nssv2866420,nssv2861052,nssv2865822,nssv2866753,nssv2867222,nssv2864558,nssv2868150,nssv2862577,nssv2859488,nssv2864011,nssv2859255,nssv2866884,nssv2868435,nssv2862707,nssv2862533,nssv2864635,nssv2863786,nssv2865415,nssv2862275,nssv2864228,nssv2860611,nssv2866089,nssv2864475,nssv2868068,nssv2868244,nssv2865227,nssv2867157,nssv2859957,nssv2859238,nssv2861068,nssv2863451,nssv2867256,nssv2865033,nssv2861350,nssv2862842,nssv2866574,nssv2866535,nssv2860849,nssv2868314,nssv2863717,nssv2863787,nssv2862342,nssv2865193,nssv2863282,nssv2867363,nssv2865503,nssv2863269,nssv2865018,nssv2862863,nssv2859802,nssv2865257,nssv2860941,nssv2864790,nssv2858902,nssv2867238,nssv2861288,nssv2867463,nssv2862409,nssv2866405,nssv2860969,nssv2864740,nssv2863053,nssv2862768,nssv2865819,nssv2865977,nssv2859107,nssv2859655,nssv2858585,nssv2866296,nssv2860346,nssv2858549,nssv2861093,nssv2866133,nssv2859242,nssv2865578,nssv2863376,nssv2863992,nssv2862273,nssv2858697,nssv2858816,nssv2862746,nssv2863685,nssv2862333,nssv2865316,nssv2864926,nssv2866501,nssv2868430,nssv2867833,nssv2860188,nssv2862090,nssv2859084,nssv2866622,nssv2859632,nssv2866212,nssv2864735,nssv2860787,nssv2858984,nssv2863884,nssv2864998,nssv2864506,nssv2864529,nssv2865851,nssv2863098,nssv2859624,nssv2864336,nssv2862325,nssv2868366,nssv2858864,nssv2866299,nssv2865566,nssv2861390,nssv2858954,nssv2861168,nssv2866197,nssv2858696,nssv2862534,nssv2864364,nssv2863320,nssv2867232,nssv2863750,nssv2861913,nssv2861142,nssv2860296,nssv2865951,nssv2868450,nssv2863863,nssv2867992,nssv2867554,nssv2866744,nssv2865936,nssv2863048,nssv2861266,nssv2866886,nssv2861166,nssv2858682,nssv2867636,nssv2861165,nssv2862562,nssv2866609,nssv2864824,nssv2867426,nssv2867847,nssv2862239,nssv2861523,nssv2859841,nssv2866375,nssv2862000,nssv2865944,nssv2864281,nssv2863484,nssv2864086,nssv2859225,nssv2859075,nssv2862442,nssv2859231,nssv2868340,nssv2868282,nssv2863973,nssv2864019,nssv2858599,nssv2862635,nssv2862775,nssv2859174,nssv2861616,nssv2867848,nssv2865478,nssv2861062,nssv2864396,nssv2861628,nssv2862942,nssv2860778,nssv2866897,nssv2866111,nssv2867207,nssv2864646,nssv2858573,nssv2860988,nssv2867231,nssv2860950,nssv2865330,nssv2859192,nssv2864261,nssv2865479,nssv2858767,nssv2865194,nssv2858858,nssv2866775,nssv2863567,nssv2866854,nssv2863707,nssv2865598,nssv2866222,nssv2863744,nssv2865933,nssv2862905,nssv2859887,nssv2867186,nssv2867979,nssv2868402,nssv2860470,nssv2867680,nssv2860103,nssv2866085,nssv2864977,nssv2858798,nssv2861127,nssv2861683,nssv2867519,nssv2859162,nssv2864757,nssv2865668,nssv2863424,nssv2864572,nssv2859061,nssv2860175,nssv2866317,nssv2867823,nssv2860402,nssv2864687,nssv2866476,nssv2863742,nssv2867199,nssv2862686,nssv2863648,nssv2858584,nssv2864046,nssv2865814,nssv2866891,nssv2867496,nssv2859787,nssv2867765,nssv2866802,nssv2866051,nssv2868469,nssv2862136,nssv2862358,nssv2867086,nssv2859583,nssv2866433,nssv2861213,nssv2858574,nssv2865646,nssv2859803,nssv2858503,nssv2859574,nssv2865154,nssv2860219,nssv2864632,nssv2863747,nssv2867351,nssv2860976,nssv2866268,nssv2865526,nssv2860798,nssv2862866,nssv2868252,nssv2865608,nssv2867863,nssv2859018,nssv2862113,nssv2859389,nssv2865204,nssv2865278,nssv2865402,nssv2861448,nssv2860758,nssv2863453,nssv2861249,nssv2860844,nssv2860093,nssv2861270,nssv2862320,nssv2862250,nssv2867932,nssv2862021,nssv2860998,nssv2861259,nssv2860622,nssv2860562,nssv2861798,nssv2867700,nssv2861889,nssv2862916,nssv2859847,nssv2866368,nssv2861842,nssv2864443,nssv2867092,nssv2862151,nssv2867002,nssv2867327,nssv2867568,nssv2858771,nssv2865430,nssv2860076,nssv2862112,nssv2861525,nssv2859514,nssv2860524,nssv2863649,nssv2866244,nssv2866280,nssv2862823,nssv2864485,nssv2859031,nssv2865460,nssv2868043,nssv2862959 M 2366 488 0 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv818145 1 38907229 38909659 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417575 M 112 0 1 "" NA18972 nsv461095 1 38907467 38944875 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537543 M 1557 0 1 "" HGDP00157 nsv546061 1 38907467 38944875 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173815 M 17421 0 1 "" HGDP00157 nsv945886 1 38947811 38950644 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760389,nssv1760379,nssv1760324,nssv1760365,nssv1760316,nssv1760369,nssv1760320,nssv1760380,nssv1760395,nssv1760348,nssv1760397,nssv1760362,nssv1760317,nssv1760344,nssv1760329,nssv1760360,nssv1760330,nssv1760371,nssv1760340,nssv1760361,nssv1760388,nssv1760403,nssv1760342,nssv1760356,nssv1760327,nssv1760387,nssv1760391,nssv1760363,nssv1760390,nssv1760405,nssv1760321,nssv1760373,nssv1760314,nssv1760400,nssv1760322,nssv1760346,nssv1760323,nssv1760354,nssv1760333,nssv1760382,nssv1760325,nssv1760372,nssv1760315,nssv1760377,nssv1760331,nssv1760384,nssv1760332,nssv1760311,nssv1760312,nssv1760352,nssv1760393,nssv1760375,nssv1760396,nssv1760347,nssv1760335,nssv1760351,nssv1760318,nssv1760341,nssv1760339,nssv1760336,nssv1760328,nssv1760376,nssv1760394,nssv1760401,nssv1760319,nssv1760367,nssv1760392,nssv1760350,nssv1760313,nssv1760337,nssv1760326,nssv1760370,nssv1760386,nssv1760398,nssv1760374,nssv1760364,nssv1760385,nssv1760402,nssv1760359,nssv1760334,nssv1760366,nssv1760383,nssv1760358,nssv1760381,nssv1760378,nssv1760355,nssv1760343,nssv1760407,nssv1760404,nssv1760349,nssv1760345,nssv1760353,nssv1760368,nssv1760338,nssv1760357,nssv1760399,nssv1760406 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv526972 1 39021300 39023551 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv703344 M 2026 1 0 "" esv23679 1 39067668 39068178 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13960 M 40 0 1 "" NA18861 nsv435884 1 39150888 39157686 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465940 M 2 0 1 RHBDL2 NA15510 nsv518731 1 39168470 39169011 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696181 M 2026 0 1 RHBDL2 esv1002936 1 39183001 39184768 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564723 M 3 1 0 "" HuRef nsv512737 1 39184060 39184303 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625363 M 1 1 0 "" 1 esv1242325 1 39184116 39184116 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4051569 M 2 1 0 "" HuRef esv2764196 1 39184689 39203724 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7005371,essv7005368,essv7005369,essv7005372,essv7005370 M 1109 5 0 "" RW_0004,RW_0023,RW_0116,RW_0594,RW_0602 esv23536 1 39205732 39213224 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20704 M 40 0 1 "" NA18502 nsv478091 1 39237792 39237792 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018420 M 9 1 0 AKIRIN1 NA18517 nsv945887 1 39242372 39244153 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761717,nssv1761694,nssv1761648,nssv1761680,nssv1761722,nssv1761673,nssv1761645,nssv1761716,nssv1761657,nssv1761699,nssv1761721,nssv1761685,nssv1761646,nssv1761701,nssv1761654,nssv1761683,nssv1761661,nssv1761728,nssv1761649,nssv1761691,nssv1761651,nssv1761692,nssv1761718,nssv1761729,nssv1761659,nssv1761727,nssv1761656,nssv1761704,nssv1761671,nssv1761666,nssv1761669,nssv1761711,nssv1761658,nssv1761703,nssv1761668,nssv1761705,nssv1761660,nssv1761684,nssv1761664,nssv1761713,nssv1761655,nssv1761672,nssv1761652,nssv1761707,nssv1761653,nssv1761731,nssv1761726,nssv1761667,nssv1761662,nssv1761670,nssv1761725,nssv1761715,nssv1760409,nssv1761730,nssv1761724,nssv1761688,nssv1761650,nssv1761735,nssv1761723,nssv1761734,nssv1760410,nssv1761681,nssv1761647,nssv1761686,nssv1761719,nssv1761679,nssv1760411,nssv1761700,nssv1761644,nssv1761675,nssv1761720,nssv1761714,nssv1761693,nssv1761682,nssv1761732,nssv1761665,nssv1761702,nssv1760408,nssv1761695,nssv1761712,nssv1761690,nssv1761677,nssv1761687,nssv1761698,nssv1761689,nssv1761676,nssv1761674,nssv1761710,nssv1761736,nssv1761733,nssv1761678,nssv1761708,nssv1761696,nssv1761709,nssv1761706,nssv1761663,nssv1761697 M 97 10 0 AKIRIN1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945888 1 39251760 39253952 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758161,nssv1758236,nssv1758160,nssv1758177,nssv1758158,nssv1758183,nssv1761740,nssv1758231,nssv1761742,nssv1758182,nssv1761744,nssv1758198,nssv1758169,nssv1758205,nssv1758226,nssv1758173,nssv1761747,nssv1758188,nssv1758165,nssv1758189,nssv1761739,nssv1758171,nssv1758172,nssv1758174,nssv1761751,nssv1758228,nssv1761746,nssv1761737,nssv1758163,nssv1758214,nssv1761743,nssv1758211,nssv1761753,nssv1758187,nssv1761745,nssv1758164,nssv1758218,nssv1758208,nssv1758225,nssv1758202,nssv1761750,nssv1758184,nssv1758159,nssv1758167,nssv1761752,nssv1758210,nssv1758224,nssv1758212,nssv1758223,nssv1758204,nssv1758227,nssv1758186,nssv1758220,nssv1758206,nssv1761738,nssv1758203,nssv1758170,nssv1758234,nssv1758219,nssv1758190,nssv1758162,nssv1758199,nssv1761741,nssv1758193,nssv1761749,nssv1758194,nssv1758222,nssv1758235,nssv1761748,nssv1758195,nssv1758221,nssv1758180,nssv1758179,nssv1758185,nssv1758192,nssv1758213,nssv1758207,nssv1758237,nssv1758217,nssv1758181,nssv1758197,nssv1758168,nssv1758191,nssv1758175,nssv1758232,nssv1758176,nssv1758178,nssv1758200,nssv1758230,nssv1758201,nssv1758216,nssv1758229,nssv1758215,nssv1758233,nssv1758209,nssv1758196,nssv1758166 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv1254825 1 39282829 39282829 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3621833 M 2 1 0 "" HuRef esv22317 1 39306877 39309244 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17982 M 40 1 0 "" NA18858 nsv515793 1 39343798 39351119 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv657487,nssv692912,nssv694005,nssv664813,nssv678265,nssv693049 M 2026 0 6 MACF1 esv32941 1 39376424 39377309 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv99758 M 51 0 1 MACF1 22086 esv3451162 1 39500576 39500595 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593979 M 185 1 0 MACF1 NA12812 nsv945890 1 39541397 39547790 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759516,nssv1759536,nssv1759567,nssv1759528,nssv1759492,nssv1759522,nssv1759573,nssv1759556,nssv1759505,nssv1759537,nssv1759506,nssv1759523,nssv1759570,nssv1759548,nssv1759501,nssv1759551,nssv1759502,nssv1759579,nssv1759511,nssv1759538,nssv1759503,nssv1759510,nssv1759572,nssv1759547,nssv1759491,nssv1759542,nssv1759497,nssv1759576,nssv1759509,nssv1759549,nssv1759494,nssv1759524,nssv1759490,nssv1759532,nssv1759507,nssv1759517,nssv1759568,nssv1759577,nssv1759493,nssv1759531,nssv1759571,nssv1759553,nssv1759488,nssv1759583,nssv1759498,nssv1759581,nssv1759515,nssv1759560,nssv1759518,nssv1759543,nssv1759504,nssv1759513,nssv1759495,nssv1759563,nssv1759499,nssv1759530,nssv1759566,nssv1759514,nssv1759496,nssv1759559,nssv1759500,nssv1759574,nssv1759489,nssv1759558,nssv1759508,nssv1758255,nssv1759565,nssv1759534,nssv1759569,nssv1759525,nssv1759564,nssv1759544,nssv1759529,nssv1759521,nssv1759550,nssv1759552,nssv1759578,nssv1759546,nssv1759582,nssv1759512,nssv1759540,nssv1759535,nssv1759562,nssv1759520,nssv1759557,nssv1759561,nssv1759527,nssv1759526,nssv1759554,nssv1759575,nssv1759545,nssv1759580,nssv1759533,nssv1759519,nssv1759555,nssv1759539,nssv1759541 M 97 10 0 MACF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv820058 1 39561057 39562375 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419235 M 2 0 1 MACF1 AK1 nsv506928 1 39584479 39590479 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv620653 M 4 0 0 MACF1 NA15510 esv1294628 1 39715394 39715394 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3974442 M 2 1 0 MACF1 HuRef nsv7177 1 39718341 40039877 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5516,nssv10825,nssv6576 M 9 0 0 BMP8A,BMP8B,HEYL,HPCAL4,MACF1,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,SNORA55 NA12156,NA18956,NA19129 esv2268423 1 39734322 39734678 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4733529 M 1 0 1 BMP8A NA18507 nsv508160 1 39741317 39803133 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv617344 M 4 0 1 BMP8A,PABPC4,PPIEL CHM esv1368683 1 39743043 39743043 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3701537 M 2 1 0 BMP8A HuRef nsv829649 1 39743542 39877101 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444673,nssv1444684 M 95 0 2 BMP8A,HEYL,PABPC4,PPIEL,SNORA55 nsv945891 1 39754960 39757926 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759591,nssv1759602,nssv1759586,nssv1759617,nssv1759590,nssv1759608,nssv1759593,nssv1759614,nssv1759616,nssv1759630,nssv1759620,nssv1759597,nssv1759611,nssv1759623,nssv1759606,nssv1759594,nssv1759626,nssv1759631,nssv1759628,nssv1759589,nssv1759603,nssv1759612,nssv1759613,nssv1759622,nssv1759595,nssv1759588,nssv1759601,nssv1759618,nssv1759585,nssv1759624,nssv1759619,nssv1759598,nssv1759592,nssv1759607,nssv1759605,nssv1759621,nssv1759587,nssv1759599,nssv1759610,nssv1759625,nssv1759596,nssv1759604,nssv1759627,nssv1759584,nssv1759600,nssv1759629,nssv1759615,nssv1759609 M 97 10 0 BMP8A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv29294 1 39771283 39773791 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13358 M 40 0 1 PPIEL NA18517 nsv566 1 39829045 39862326 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9038 M 9 1 0 HEYL NA12156 nsv160826 1 39845318 39845673 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179404 M 24 "" esv3367103 1 39867352 39869250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692322 M 185 1 0 HEYL NA19239 nsv518544 1 39878682 39885197 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695987 M 2026 0 1 "" nsv577 1 39882608 39915099 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2085 M 9 1 0 NT5C1A NA18555 esv2530832 1 39902283 39903196 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5307330 M 1 1 0 NT5C1A NA18507 nsv546062 1 39917884 39989580 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712566 M 17421 1 0 HPCAL4,PPIE dgv152n100 1 39931415 40038677 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998684,nsv1008565 M 29084 2 0 BMP8B,OXCT2,PPIE dgv153n100 1 39954078 40086507 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997280,nsv1003494,nsv1009306,nsv1007943,nsv999978 M 29084 6 0 BMP8B,OXCT2,PPIE,TRIT1 nsv945893 1 39956427 39958552 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759712,nssv1759670,nssv1759641,nssv1759727,nssv1759637,nssv1759722,nssv1759635,nssv1759723,nssv1759711,nssv1759697,nssv1759650,nssv1759685,nssv1759639,nssv1759668,nssv1759648,nssv1759726,nssv1759709,nssv1759684,nssv1759661,nssv1759679,nssv1759718,nssv1759671,nssv1759651,nssv1759686,nssv1759646,nssv1759678,nssv1759634,nssv1759690,nssv1759653,nssv1759706,nssv1759636,nssv1759672,nssv1759717,nssv1759708,nssv1759656,nssv1759700,nssv1759647,nssv1759702,nssv1759654,nssv1759681,nssv1759710,nssv1759720,nssv1759642,nssv1759683,nssv1759713,nssv1759659,nssv1759645,nssv1759698,nssv1759652,nssv1759667,nssv1759633,nssv1759693,nssv1759716,nssv1759676,nssv1759660,nssv1759664,nssv1759715,nssv1759632,nssv1759649,nssv1759688,nssv1759638,nssv1759692,nssv1759663,nssv1759725,nssv1759643,nssv1759673,nssv1759644,nssv1759655,nssv1759640,nssv1759682,nssv1759714,nssv1759675,nssv1759724,nssv1759721,nssv1759701,nssv1759728,nssv1759658,nssv1759691,nssv1759689,nssv1759696,nssv1759662,nssv1759699,nssv1759707,nssv1759665,nssv1759704,nssv1759666,nssv1759694,nssv1759705,nssv1759669,nssv1759687,nssv1759719,nssv1759703,nssv1759695,nssv1759680,nssv1759677,nssv1759674,nssv1759657 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv15n27 1 39957320 40079485 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv461106,nsv461117 M 1557 2 0 BMP8B,OXCT2,PPIE,TRIT1 1780854592_A,1780862460_A nsv546063 1 39957320 40079485 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173816,nssv712567,nssv1173817 M 17421 3 0 BMP8B,OXCT2,PPIE,TRIT1 1780854592_A,1780862460_A esv2758933 1 39997730 40433019 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757730 M 270 0 1 BMP8B,CAP1,MFSD2A,MYCL,OXCT2,PPIE,PPT1,RLF,TRIT1 NA19152 nsv945894 1 40001731 40004424 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760735,nssv1759762,nssv1759734,nssv1760726,nssv1760739,nssv1760721,nssv1760731,nssv1759793,nssv1759747,nssv1760745,nssv1759753,nssv1759786,nssv1760736,nssv1759765,nssv1759748,nssv1759792,nssv1759760,nssv1759794,nssv1759745,nssv1759761,nssv1759731,nssv1760742,nssv1759742,nssv1759767,nssv1759732,nssv1759754,nssv1759736,nssv1759766,nssv1759733,nssv1759785,nssv1759743,nssv1759773,nssv1759751,nssv1759729,nssv1759744,nssv1760724,nssv1760733,nssv1760728,nssv1759758,nssv1759776,nssv1759737,nssv1760743,nssv1760738,nssv1760729,nssv1759739,nssv1759777,nssv1760730,nssv1759774,nssv1759730,nssv1760747,nssv1759746,nssv1760720,nssv1759757,nssv1759771,nssv1759735,nssv1759763,nssv1760737,nssv1759782,nssv1759750,nssv1759787,nssv1759749,nssv1759775,nssv1759738,nssv1759772,nssv1759741,nssv1760740,nssv1759740,nssv1760744,nssv1760732,nssv1759768,nssv1760734,nssv1759783,nssv1759795,nssv1760749,nssv1759759,nssv1760727,nssv1760725,nssv1759781,nssv1759764,nssv1759790,nssv1759756,nssv1760748,nssv1760723,nssv1759769,nssv1759789,nssv1759778,nssv1760741,nssv1759780,nssv1760746,nssv1759788,nssv1760722,nssv1759755,nssv1759770,nssv1759752,nssv1759791,nssv1759779,nssv1759784 M 97 10 0 BMP8B,PPIE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945895 1 40006019 40014295 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760757,nssv1760786,nssv1760756,nssv1760781,nssv1760752,nssv1760771,nssv1760759,nssv1760764,nssv1760782,nssv1760765,nssv1760777,nssv1760766,nssv1760787,nssv1760753,nssv1760774,nssv1760796,nssv1760767,nssv1760792,nssv1760791,nssv1760789,nssv1760758,nssv1760778,nssv1760790,nssv1760788,nssv1760760,nssv1760769,nssv1760795,nssv1760793,nssv1760776,nssv1760785,nssv1760784,nssv1760751,nssv1760762,nssv1760773,nssv1760772,nssv1760768,nssv1760783,nssv1760761,nssv1760794,nssv1760750,nssv1760770,nssv1760754,nssv1760775,nssv1760780,nssv1760797,nssv1760755,nssv1760763,nssv1760779 M 97 10 0 BMP8B,OXCT2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv6866 1 40042024 40042203 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29307 M 1 0 0 "" nsv472423 1 40134899 40134899 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019203 M 9 1 0 MYCL NA18555 nsv159700 1 40161162 40168129 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178278 M 24 "" nsv472702 1 40166350 40166350 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010970 M 9 1 0 "" NA18555 nsv945896 1 40199096 40203923 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760807,nssv1759417,nssv1759456,nssv1759426,nssv1759449,nssv1759427,nssv1760804,nssv1759462,nssv1760800,nssv1759459,nssv1760819,nssv1759407,nssv1760803,nssv1759430,nssv1760815,nssv1759420,nssv1760818,nssv1759411,nssv1760817,nssv1759457,nssv1760809,nssv1759443,nssv1759447,nssv1759435,nssv1760816,nssv1759442,nssv1759453,nssv1759405,nssv1760811,nssv1759436,nssv1759454,nssv1759413,nssv1760814,nssv1759441,nssv1759451,nssv1760832,nssv1760813,nssv1759461,nssv1759450,nssv1759439,nssv1760801,nssv1759465,nssv1760820,nssv1759422,nssv1760808,nssv1759466,nssv1760810,nssv1759418,nssv1760806,nssv1759440,nssv1760805,nssv1759433,nssv1760799,nssv1759423,nssv1760802,nssv1759410,nssv1759448,nssv1760825,nssv1760829,nssv1759408,nssv1760826,nssv1759446,nssv1760827,nssv1759432,nssv1760812,nssv1760823,nssv1760822,nssv1759406,nssv1759452,nssv1760828,nssv1759455,nssv1759444,nssv1759409,nssv1759458,nssv1759429,nssv1759437,nssv1759424,nssv1760830,nssv1759416,nssv1759445,nssv1759412,nssv1759434,nssv1759438,nssv1759464,nssv1759431,nssv1760824,nssv1760821,nssv1759425,nssv1759415,nssv1759428,nssv1760798,nssv1759460,nssv1759421,nssv1759463,nssv1759419,nssv1760831,nssv1759414 M 97 10 0 MFSD2A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv523913 1 40249388 40271889 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699756 M 2026 0 1 "" esv2750836 1 40276366 40331835 CNV gain Pinto_et_al_2007 17911159 SNP array essv6988472,essv6981953 M 771 2 0 CAP1,PPT1 BEC_508 nsv517028 1 40288983 40307654 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv663352,nssv651735,nssv653640,nssv671364 M 2026 4 0 CAP1 esv3332178 1 40297264 40297283 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9594002,essv9593990 M 185 2 0 CAP1 NA18970,NA19141 nsv588 1 40304630 40310137 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10831 M 9 1 0 CAP1 NA18956 nsv945897 1 40309669 40310857 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760412,nssv1760426,nssv1759472,nssv1760442,nssv1760477,nssv1760459,nssv1759485,nssv1760485,nssv1759477,nssv1760430,nssv1759486,nssv1760433,nssv1760476,nssv1760428,nssv1759476,nssv1760438,nssv1759481,nssv1760479,nssv1759471,nssv1760423,nssv1760473,nssv1760463,nssv1759483,nssv1760484,nssv1759478,nssv1760486,nssv1759479,nssv1760449,nssv1759487,nssv1760461,nssv1760471,nssv1760445,nssv1759469,nssv1760446,nssv1760413,nssv1760460,nssv1760422,nssv1760462,nssv1759482,nssv1760424,nssv1760470,nssv1760429,nssv1759468,nssv1760440,nssv1760469,nssv1760437,nssv1759470,nssv1760483,nssv1759484,nssv1760448,nssv1760475,nssv1760427,nssv1759480,nssv1760467,nssv1760415,nssv1760453,nssv1759475,nssv1760480,nssv1760420,nssv1760457,nssv1760419,nssv1760451,nssv1759474,nssv1760466,nssv1760472,nssv1760443,nssv1760468,nssv1760418,nssv1759473,nssv1760464,nssv1760474,nssv1760417,nssv1760454,nssv1760441,nssv1759467,nssv1760444,nssv1760455,nssv1760425,nssv1760421,nssv1760456,nssv1760447,nssv1760432,nssv1760450,nssv1760452,nssv1760414,nssv1760465,nssv1760478,nssv1760482,nssv1760431,nssv1760481,nssv1760435,nssv1760434,nssv1760458,nssv1760436,nssv1760416,nssv1760439,nssv1760487 M 97 10 0 CAP1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv829660 1 40311291 40504667 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1444985,nssv1444695,nssv1445029,nssv1445085,nssv1444929,nssv1444839,nssv1445074,nssv1445018,nssv1444706,nssv1444773,nssv1445107,nssv1444996,nssv1444784,nssv1444974,nssv1444896,nssv1444885,nssv1445040,nssv1444728,nssv1445096,nssv1444817,nssv1444751,nssv1444940,nssv1444963,nssv1444907,nssv1445129,nssv1444852,nssv1445007,nssv1444951,nssv1444762,nssv1444806,nssv1445118,nssv1444874,nssv1444918,nssv1445062,nssv1444717,nssv1444863,nssv1444828,nssv1444795,nssv1445051,nssv1444740 M 95 3 37 PPT1,RLF,TMCO2,ZMPSTE24 nsv476221 1 40316280 40316280 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015342 M 9 1 0 PPT1 NA12878 nsv10128 1 40320597 40326326 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv14094 M 31 0 1 PPT1 NA18975 esv6823 1 40324735 40326380 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29264 M 1 0 0 PPT1 dgv35n67 1 40324844 40326145 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822398,nsv822409 M 31 0 2 PPT1 AK20,NA18949 nsv945898 1 40365790 40370714 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760570,nssv1760562,nssv1760509,nssv1760525,nssv1760499,nssv1760555,nssv1760571,nssv1760563,nssv1760493,nssv1760523,nssv1760494,nssv1760584,nssv1760566,nssv1760578,nssv1760517,nssv1760545,nssv1760519,nssv1760531,nssv1760505,nssv1760532,nssv1760565,nssv1760514,nssv1760501,nssv1760530,nssv1760508,nssv1760536,nssv1760490,nssv1760522,nssv1760506,nssv1760549,nssv1760507,nssv1760546,nssv1760503,nssv1760543,nssv1760504,nssv1760560,nssv1760496,nssv1760583,nssv1760568,nssv1760520,nssv1760512,nssv1760576,nssv1760498,nssv1760551,nssv1760497,nssv1760515,nssv1760573,nssv1760524,nssv1760510,nssv1760535,nssv1760492,nssv1760513,nssv1760495,nssv1760527,nssv1760574,nssv1760526,nssv1760572,nssv1760537,nssv1760489,nssv1760558,nssv1760502,nssv1760579,nssv1760500,nssv1760542,nssv1760567,nssv1760554,nssv1760516,nssv1760541,nssv1760569,nssv1760557,nssv1760491,nssv1760580,nssv1760534,nssv1760539,nssv1760556,nssv1760564,nssv1760548,nssv1760577,nssv1760538,nssv1760582,nssv1760540,nssv1760559,nssv1760575,nssv1760561,nssv1760529,nssv1760521,nssv1760550,nssv1760547,nssv1760553,nssv1760488,nssv1760511,nssv1760544,nssv1760581,nssv1760533,nssv1760552,nssv1760518,nssv1760528 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv521874 1 40408974 40460766 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694106 M 2026 0 1 RLF nsv947427 1 40427478 40431830 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2763173 M 97 1 0 RLF HGDP00998 nsv945899 1 40561911 40574284 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760606,nssv1760635,nssv1760593,nssv1760679,nssv1760602,nssv1760645,nssv1760663,nssv1760608,nssv1760600,nssv1760649,nssv1760668,nssv1760647,nssv1760603,nssv1760637,nssv1760592,nssv1760626,nssv1760662,nssv1760672,nssv1760598,nssv1760610,nssv1760614,nssv1760661,nssv1760604,nssv1760660,nssv1760605,nssv1760652,nssv1760616,nssv1760585,nssv1760601,nssv1760618,nssv1760587,nssv1760619,nssv1760665,nssv1760681,nssv1760597,nssv1760643,nssv1760595,nssv1760611,nssv1760670,nssv1760621,nssv1760671,nssv1760676,nssv1760591,nssv1760659,nssv1760607,nssv1760629,nssv1760588,nssv1760675,nssv1760589,nssv1760630,nssv1760669,nssv1760657,nssv1760667,nssv1760625,nssv1760599,nssv1760633,nssv1760586,nssv1760627,nssv1760664,nssv1760642,nssv1760594,nssv1760638,nssv1760609,nssv1760628,nssv1760613,nssv1760640,nssv1760596,nssv1760615,nssv1760666,nssv1760620,nssv1760590,nssv1760624,nssv1760680,nssv1760612,nssv1760623,nssv1760641,nssv1760639,nssv1760673,nssv1760658,nssv1760632,nssv1760646,nssv1760651,nssv1760655,nssv1760677,nssv1760622,nssv1760631,nssv1760654,nssv1760636,nssv1760653,nssv1760634,nssv1760648,nssv1760650,nssv1760644,nssv1760656,nssv1760617,nssv1760678,nssv1760674 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv546064 1 40670079 40911928 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712568 M 17421 1 0 EXO5,RIMS3,ZFP69,ZFP69B,ZNF684 esv2763289 1 40688990 40696606 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7027668 M 1109 0 1 ZFP69B SW_1289 esv2597296 1 40733925 40735550 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5267691 M 1 0 1 ZFP69 NA18507 esv2369794 1 40734768 40735542 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4601534 M 1 0 1 "" NA18507 esv2421929 1 40738766 40742251 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5028496,essv5016105,essv5088596,essv5015979,essv5084132,essv5149168,essv5130096,essv5050516,essv5130881,essv5005042,essv5031015,essv5115483,essv5035402,essv5155345,essv5073486,essv5040849,essv5047287,essv5138442,essv5110742,essv5074050,essv5056700,essv5118372,essv5003237,essv5004950,essv5048361,essv5076708,essv5064594,essv5054910,essv5067036,essv5060670,essv5015953,essv5008358,essv5072071,essv5004810,essv5010372,essv5086730,essv5046483,essv5096270,essv5024336,essv5112394,essv5005003,essv5062156,essv5030533,essv5071766,essv5047717,essv5008181,essv5150596,essv5043565,essv5134179,essv5039917,essv5152520,essv5154716,essv5021004,essv5071966,essv5107694,essv5032064,essv5018422,essv5016174,essv5090401,essv5095069,essv5101369,essv5075627,essv5058625,essv5145500,essv5016558,essv5123078,essv5102518 M 1184 0 67 "" NA17976,NA17989,NA17990,NA17995,NA18112,NA18124,NA18125,NA18132,NA18141,NA18144,NA18146,NA18150,NA18152,NA18153,NA18497,NA18498,NA18537,NA18546,NA18552,NA18566,NA18593,NA18599,NA18602,NA18620,NA18641,NA18643,NA18682,NA18749,NA18945,NA18951,NA18953,NA18956,NA18973,NA18976,NA18991,NA19009,NA19028,NA19036,NA19044,NA19064,NA19075,NA19087,NA19088,NA19184,NA19190,NA19316,NA19334,NA19429,NA19467,NA19712,NA19982,NA20295,NA21300,NA21311,NA21314,NA21320,NA21359,NA21381,NA21421,NA21423,NA21425,NA21454,NA21479,NA21485,NA21608,NA21613,NA21617 nsv441689 1 40738766 40742251 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656633,nssv1656639,nssv1656638,nssv1656642,nssv1656634,nssv1656636,nssv1656632,nssv1656644,nssv1656643,nssv1656637,nssv1656640,nssv1656635,nssv1656641 M 270 0 13 "" NA18537,NA18552,NA18566,NA18593,NA18609,NA18620,NA18945,NA18951,NA18953,NA18956,NA18973,NA18976,NA18991 esv25741 1 40739619 40742447 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13150 M 40 0 1 "" NA19190 nsv819581 1 40740139 40743009 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419486 M 2 0 1 "" AK1 nsv822420 1 40740783 40742603 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1439454,nssv1428822,nssv1438584,nssv1437935,nssv1435651,nssv1422367,nssv1426386 M 31 0 7 "" AK12,AK6,NA18537,NA18552,NA18566,NA18951,NA18973 nsv513986 1 40740984 40742464 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2858602,nssv2864391,nssv2866823,nssv2867370,nssv2860901,nssv2860650,nssv2862378,nssv2858889,nssv2867371,nssv2866362,nssv2859196,nssv2864221,nssv2861181,nssv2867983,nssv2867967,nssv2865457,nssv2867454,nssv2862290,nssv2864796,nssv2864659,nssv2859298,nssv2862933,nssv2866387,nssv2863674,nssv2865955,nssv2867654,nssv2862110,nssv2859155,nssv2867705 M 2366 0 29 "" NA18497,NA18498,NA18537,NA18552,NA18566,NA18593,NA18609,NA18620,NA18945,NA18953,NA18956,NA18973,NA19184,NA19186,NA19190,NA21312,NA21359,NA21361,NA21381,NA21423,NA21425,NA21454,NA21479,NA21480,NA21485,NA21599,NA21601,NA21608,NA21614 nsv546065 1 40781029 40804646 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712569 M 17421 0 1 ZNF684 dgv243n54 1 40785847 40799427 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546067,nsv546066 M 17421 0 2 ZNF684 nsv546068 1 40790542 40796098 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712572 M 17421 0 1 "" dgv244n54 1 40790542 40800906 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546069,nsv546070,nsv546072,nsv546071 M 17421 0 7 "" esv28574 1 40793794 40801068 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19467,esv10486 M 40 0 7 "" NA11894,NA12239,NA12414,NA18502,NA18508,NA18858,NA18916 nsv160971 1 40794272 40801210 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179549 M 24 "" nsv822431 1 40794289 40798568 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1429558,nssv1431068 M 31 0 2 "" AK14,AK18 dgv245n54 1 40794563 40796098 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546073,nsv546074 M 17421 0 10 "" nsv516619 1 40794563 40799336 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv666582,nssv689850,nssv672519,nssv666888,nssv671657,nssv684450,nssv664864,nssv689534,nssv662673,nssv672295,nssv653231,nssv680334,nssv691007,nssv690433,nssv667789,nssv663616,nssv673153,nssv690948,nssv654770 M 2026 0 19 "" dgv246n54 1 40794563 40799567 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546077,nsv546075,nsv546076 M 17421 0 6 "" esv2422112 1 40794563 40800797 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5078272,essv5070027,essv5093829,essv5013734,essv5134182,essv5146960,essv5042242,essv5090030,essv5018970,essv5126297,essv5099601,essv5003557,essv5015947,essv5140216,essv5014732,essv5090744,essv5008069,essv5013688,essv5133217,essv5065815,essv5052721,essv5019620,essv5135793,essv5012360,essv5126113,essv5154458,essv5055084,essv5054587,essv5144533,essv5085310,essv5057629,essv5082042,essv5088566,essv5137735,essv5093420,essv5057086,essv5053793,essv5157454,essv5024924,essv5012822,essv5069345,essv5160165,essv5052522,essv5122140,essv5071010,essv5136892,essv5073338,essv5006452,essv5118069,essv5085094,essv5104203,essv5011762,essv5062938,essv5078884,essv5122132,essv5104421,essv5034771,essv5092961,essv5156571,essv5144190,essv5008872,essv5116017,essv5152021,essv5024231,essv5133407,essv5148005,essv5045578,essv5124055,essv5129017,essv5052971,essv5151269,essv5074853,essv5016126,essv5110834,essv5096588,essv5100900,essv5009795,essv5153128,essv5071215,essv5044603,essv5144927,essv5067020 M 1184 0 82 "" NA10863,NA11894,NA12234,NA12239,NA12248,NA12264,NA12336,NA12341,NA12343,NA12716,NA12812,NA12815,NA17972,NA17983,NA18149,NA18498,NA18500,NA18503,NA18504,NA18506,NA18508,NA18518,NA18519,NA18544,NA18562,NA18594,NA18610,NA18636,NA18670,NA18853,NA18854,NA18858,NA18860,NA18916,NA18965,NA18976,NA18990,NA19078,NA19149,NA19315,NA19372,NA19445,NA19451,NA19656,NA19676,NA19761,NA19762,NA19763,NA19771,NA19772,NA19774,NA19788,NA19904,NA19915,NA19985,NA20127,NA20128,NA20334,NA20335,NA20336,NA20337,NA20510,NA20515,NA20521,NA20535,NA20756,NA20816,NA20849,NA20874,NA20877,NA20882,NA20884,NA20885,NA21101,NA21105,NA21123,NA21297,NA21301,NA21352,NA21473,NA21631,NA21685 nsv546078 1 40794563 40800906 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712598,nssv712597,nssv712596,nssv712603,nssv712604,nssv712602,nssv712599,nssv712600,nssv712601,nssv712609,nssv712610,nssv712608,nssv712605,nssv712607,nssv712606,nssv712612,nssv712611,nssv712614,nssv712613 M 17421 0 19 "" nsv546079 1 40794776 40804646 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712615 M 17421 0 1 "" esv2409848 1 40796688 40797064 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4750530 M 1 0 1 "" NA18507 nsv546080 1 40797216 40800906 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712616 M 17421 0 1 "" nsv546081 1 40798870 40800796 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712617 M 17421 0 1 "" dgv247n54 1 40799291 40800906 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546085,nsv546083,nsv546089,nsv546087,nsv546090,nsv546086,nsv546084,nsv546082 M 17421 0 23 "" nsv546088 1 40799336 40804646 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712637 M 17421 0 1 "" nsv599 1 40853155 40886520 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9047 M 9 0 1 RIMS3 NA12156 nsv473068 1 40856358 40856358 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016901 M 9 1 0 "" NA19129 nsv473417 1 40863147 40863147 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012203 M 9 1 0 RIMS3 NA19129 esv8923 1 40993211 40993363 CNV gain Ahn_et_al_2009 19470904 Sequencing essv31364 M 1 0 0 NFYC nsv610 1 40996458 41028137 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9053 M 9 1 0 KCNQ4,NFYC NA12156 esv3385586 1 41011425 41011437 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863690 M 185 1 0 "" NA12005 esv2763298 1 41111252 41149087 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7027723,essv7027701,essv7027734,essv7027679,essv7027712,essv7027690 M 1109 6 0 "" SW_0076,SW_0829,SW_0884,SW_0890,SW_1079,SW_1318 dgv154n100 1 41113194 41149075 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001429,nsv1008475,nsv1009986,nsv1006018 M 29084 4 0 "" dgv155n100 1 41115648 41163300 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997467,nsv1006158,nsv1005582 M 29084 3 0 "" dgv248n54 1 41116195 41147030 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546092,nsv546096,nsv546094,nsv546091,nsv546095 M 17421 17 0 "" 1780854436_A,1780862125_A,1780862346_A,1780862443_A,1798860192_A,1798860336_A,HGDP00319,HGDP00614,HGDP00624,HGDP01153,NINDS_18,NINDS_238,NINDS_98 dgv16n27 1 41116195 41156425 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv461217,nsv461228,nsv461306,nsv461328,nsv461239,nsv461206,nsv461195,nsv461250,nsv461261,nsv461150,nsv461272,nsv461139,nsv461161,nsv461173,nsv461184,nsv461295,nsv461284 M 1557 17 0 "" 1780854436_A,1780862125_A,1780862346_A,1780862443_A,1780862551_A,1798860192_A,1798860336_A,HGDP00082,HGDP00319,HGDP00513,HGDP00614,HGDP00624,HGDP00628,HGDP01153,NINDS_18,NINDS_238,NINDS_98 dgv249n54 1 41116195 41159590 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546099,nsv546098,nsv546097,nsv546093,nsv546100 M 17421 8 0 "" 1780862551_A,HGDP00082,HGDP00084,HGDP00513,HGDP00628 esv29727 1 41119009 41153575 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv18639 M 40 1 0 "" NA12004 nsv441690 1 41119794 41149087 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1656645,nssv1656646,nssv1656648,nssv1656649,nssv1656647 M 270 5 0 "" NA07348,NA07357,NA12004,NA12144,NA12873 nsv470710 1 41119815 41147029 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547726,nssv547728,nssv547727 M 443 3 0 "" HGDP00614,HGDP00615,HGDP00628 nsv516272 1 41119815 41147030 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv654797,nssv689447,nssv667238,nssv679939 M 2026 4 0 "" nsv818156 1 41119815 41147030 CNV gain Wang_et_al_2007 17921354 SNP array nssv1417960,nssv1417961 M 112 2 0 "" NA07348,NA07357 nsv474144 1 41124925 41124925 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017091 M 9 1 0 "" NA18507 nsv461339 1 41127268 41146737 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537738 M 1557 1 0 "" HGDP00615 dgv250n54 1 41127268 41147030 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546102,nsv546101 M 17421 3 0 "" HGDP00615 nsv522723 1 41164805 41168285 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698354 M 2026 0 1 "" nsv159614 1 41171348 41172556 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178192 M 24 "" nsv945900 1 41178457 41181441 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760690,nssv1761352,nssv1760703,nssv1761356,nssv1760687,nssv1760715,nssv1760699,nssv1761370,nssv1760692,nssv1761367,nssv1760693,nssv1761355,nssv1761383,nssv1761368,nssv1760700,nssv1761359,nssv1761384,nssv1761342,nssv1761376,nssv1760712,nssv1760701,nssv1761344,nssv1760695,nssv1761386,nssv1760694,nssv1761390,nssv1760698,nssv1760714,nssv1760697,nssv1761341,nssv1760685,nssv1761391,nssv1761375,nssv1761343,nssv1760706,nssv1760705,nssv1760704,nssv1761353,nssv1760686,nssv1761349,nssv1760702,nssv1761363,nssv1761381,nssv1761369,nssv1760683,nssv1761387,nssv1761382,nssv1761354,nssv1760710,nssv1761394,nssv1761378,nssv1761340,nssv1760689,nssv1760682,nssv1760713,nssv1761345,nssv1761380,nssv1761338,nssv1760696,nssv1761388,nssv1761377,nssv1760708,nssv1760691,nssv1761346,nssv1760688,nssv1760717,nssv1760711,nssv1761337,nssv1761379,nssv1761364,nssv1760684,nssv1760719,nssv1761339,nssv1761361,nssv1761374,nssv1761358,nssv1761336,nssv1761351,nssv1761389,nssv1761362,nssv1761371,nssv1761366,nssv1761373,nssv1761348,nssv1761385,nssv1760709,nssv1760707,nssv1761392,nssv1761360,nssv1761357,nssv1761372,nssv1760716,nssv1761350,nssv1761347,nssv1760718,nssv1761393,nssv1761365 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv621 1 41236609 41250124 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9060 M 9 0 1 CTPS1 NA12156 nsv546103 1 41250031 41315091 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712651 M 17421 0 1 CTPS1,MIR5095,SCMH1,SLFNL1,SLFNL1-AS1 esv3332583 1 41275284 41275340 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898887,essv8898886 M 185 2 0 SCMH1,SLFNL1-AS1 NA18507,NA19116 esv3304788 1 41275294 41275295 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7829962,essv7818342,essv7816360 M 185 3 0 SCMH1,SLFNL1-AS1 NA18507,NA19116,NA19143 esv3427723 1 41275299 41275318 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9594013 M 185 1 0 SCMH1,SLFNL1-AS1 NA19143 nsv945901 1 41336461 41337585 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761409,nssv1761145,nssv1761403,nssv1761441,nssv1761401,nssv1761447,nssv1761406,nssv1761164,nssv1761397,nssv1761431,nssv1761151,nssv1761457,nssv1761423,nssv1761443,nssv1761400,nssv1761148,nssv1761412,nssv1761452,nssv1761158,nssv1761168,nssv1761419,nssv1761395,nssv1761150,nssv1761440,nssv1761407,nssv1761166,nssv1761416,nssv1761456,nssv1761414,nssv1761146,nssv1761405,nssv1761165,nssv1761413,nssv1761448,nssv1761404,nssv1761450,nssv1761411,nssv1761159,nssv1761424,nssv1761418,nssv1761408,nssv1761163,nssv1761415,nssv1761453,nssv1761155,nssv1761147,nssv1761426,nssv1761162,nssv1761417,nssv1761436,nssv1761153,nssv1761428,nssv1761152,nssv1761449,nssv1761154,nssv1761438,nssv1761402,nssv1761439,nssv1761398,nssv1761444,nssv1761156,nssv1761432,nssv1761399,nssv1761451,nssv1761396,nssv1761442,nssv1761149,nssv1761144,nssv1761410,nssv1761460,nssv1761157,nssv1761422,nssv1761167,nssv1761141,nssv1761139,nssv1761421,nssv1761437,nssv1761461,nssv1761142,nssv1761160,nssv1761445,nssv1761420,nssv1761430,nssv1761433,nssv1761427,nssv1761143,nssv1761140,nssv1761425,nssv1761435,nssv1761458,nssv1761459,nssv1761429,nssv1761434,nssv1761454,nssv1761161,nssv1761446,nssv1761455 M 97 10 0 MIR5095,SCMH1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv24588 1 41344450 41345732 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv9763 M 40 0 2 MIR5095,SCMH1 NA18517,NA19225 nsv519146 1 41354593 41365585 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696623 M 2026 1 0 MIR5095,SCMH1 nsv1013869 1 41359999 41412336 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477086 M 29084 1 0 MIR5095,SCMH1 esv2571087 1 41432700 41434023 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5206154 M 1 0 1 MIR5095,SCMH1 NA18507 esv22527 1 41534563 41538300 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13787 M 40 0 1 "" NA19240 esv3395078 1 41566552 41568250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692328 M 185 1 0 "" NA19239 esv2643183 1 41576653 41578248 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5299791 M 1 0 1 "" NA18507 nsv508171 1 41577470 41747267 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622762 M 4 0 1 EDN2,HIVEP3 NA18994 nsv546104 1 41603634 41633970 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712652 M 17421 0 1 "" esv3410216 1 41608134 41608134 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701368 M 185 1 0 "" NA12878 nsv524868 1 41633970 41634712 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700873 M 2026 0 1 "" nsv474312 1 41653210 41653210 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017901 M 9 1 0 "" NA18507 dgv81e59 1 41662352 41664250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3435759,esv3375243 M 185 2 0 "" NA12878,NA19240 esv2627113 1 41663054 41663789 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5205147 M 1 1 0 "" NA18507 esv3378313 1 41663515 41663756 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740973 M 185 1 0 "" NA19240 nsv633 1 41718085 41763205 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9065 M 9 0 1 EDN2,HIVEP3 NA12156 nsv525172 1 41720331 41725495 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701248 M 2026 0 1 EDN2 nsv461350 1 41720331 41743799 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537744 M 1557 0 1 EDN2 HGDP00433 nsv546105 1 41720331 41743799 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173837 M 17421 0 1 EDN2 HGDP00433 esv2027172 1 41727898 41728364 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4601976 M 1 0 1 "" NA18507 esv21529 1 41764057 41770571 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv11297 M 40 1 0 HIVEP3 NA06985 dgv251n54 1 41764232 41768268 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546107,nsv546106 M 17421 4 0 HIVEP3 nsv546108 1 41764343 41768268 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712658,nssv712657 M 17421 1 1 HIVEP3 esv2229339 1 41766569 41766983 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4855638 M 1 0 1 HIVEP3 NA18507 nsv644 1 41779742 41813245 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9073 M 9 1 0 HIVEP3 NA12156 esv1639858 1 41783211 41783211 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3702696 M 2 1 0 HIVEP3 HuRef nsv518313 1 41844025 41847854 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695744 M 2026 0 1 HIVEP3 nsv655 1 41866559 41899052 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2095 M 9 1 0 HIVEP3 NA18555 esv2174819 1 41873634 41874086 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4943981 M 1 0 1 HIVEP3 NA18507 esv1535775 1 41873876 41873932 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3994813 M 2 0 1 HIVEP3 HuRef nsv472825 1 41885005 41885005 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018274 M 9 1 0 HIVEP3 NA18555 esv3334333 1 41927285 41927335 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7862063 M 185 1 0 HIVEP3 NA18516 nsv461361 1 41937718 41971163 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537752 M 1557 0 1 HIVEP3 HGDP00553 nsv546109 1 41937718 41971163 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173838 M 17421 0 1 HIVEP3 HGDP00553 esv3341707 1 41999052 42000150 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692332 M 185 1 0 HIVEP3 NA19239 nsv517842 1 42034476 42043750 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695246 M 2026 0 1 HIVEP3 nsv474502 1 42057192 42057192 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015182 M 9 1 0 HIVEP3 NA18956 nsv666 1 42063237 42074543 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9081 M 9 0 1 HIVEP3 NA12156 esv27848 1 42138620 42139210 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv19802 M 40 1 0 HIVEP3 NA11993 nsv677 1 42149652 42183227 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5517 M 9 1 0 HIVEP3 NA19129 dgv156n100 1 42155166 42244449 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001352,nsv1006768,nsv1011769 M 29084 3 0 HIVEP3 esv3304449 1 42162883 42162884 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7809974,essv7830445,essv7770762,essv7778271,essv7834245,essv7828901,essv7811502,essv7772293 M 185 8 0 HIVEP3 NA11994,NA12144,NA12154,NA12815,NA12872,NA18964,NA18973,NA19005 esv3407169 1 42162884 42162906 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898895,essv8898888,essv8898889,essv8898894,essv8898891,essv8898890 M 185 6 0 HIVEP3 NA11994,NA12144,NA12154,NA18964,NA18973,NA19005 esv3402472 1 42162895 42162914 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9594024,essv9594035 M 185 2 0 HIVEP3 NA12815,NA12872 esv3360626 1 42186985 42187004 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9594046 M 185 1 0 HIVEP3 NA19141 nsv829671 1 42193632 42353185 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1445140 M 95 0 1 HIVEP3 nsv519479 1 42289357 42362690 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv656348,nssv671865 M 2026 2 0 "" nsv472439 1 42294477 42294477 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014295 M 9 1 0 "" NA18555 nsv527531 1 42389619 42408092 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703990 M 2026 0 1 GUCA2A,GUCA2B nsv688 1 42406455 42441058 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2935 M 9 1 0 FOXJ3 NA18555 esv24371 1 42421525 42425424 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12093 M 40 0 1 FOXJ3 NA18502 esv22111 1 42459429 42461747 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13732 M 40 0 1 FOXJ3 NA12828 esv3414902 1 42505922 42505930 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863691 M 185 1 0 FOXJ3 NA12005 esv2539470 1 42515199 42516854 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5294377 M 1 0 1 FOXJ3 NA18507 esv3375211 1 42541209 42541270 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898899,essv8898898,essv8898896,essv8898897 M 185 4 0 FOXJ3 NA18522,NA18907,NA19102,NA19138 esv3306125 1 42541211 42541212 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7758268,essv7763163,essv7746852,essv7755807 M 185 4 0 FOXJ3 NA18522,NA18907,NA19102,NA19138 nsv822442 1 42610588 42611703 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1432074 M 31 0 1 "" NA18972 esv28389 1 42627770 42630321 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16457 M 40 0 2 RIMKLA NA07045,NA18907 nsv945902 1 42650553 42652813 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761183,nssv1761205,nssv1761200,nssv1761227,nssv1761190,nssv1761224,nssv1761186,nssv1761195,nssv1761197,nssv1761258,nssv1761247,nssv1761225,nssv1761188,nssv1761230,nssv1761250,nssv1761245,nssv1761187,nssv1761261,nssv1761189,nssv1761244,nssv1761177,nssv1761208,nssv1761179,nssv1761243,nssv1761255,nssv1761203,nssv1761246,nssv1761229,nssv1761185,nssv1761265,nssv1761178,nssv1761199,nssv1761182,nssv1761232,nssv1761198,nssv1761233,nssv1761176,nssv1761235,nssv1761252,nssv1761201,nssv1761193,nssv1761231,nssv1761181,nssv1761260,nssv1761191,nssv1761263,nssv1761251,nssv1761204,nssv1761249,nssv1761206,nssv1761253,nssv1761221,nssv1761175,nssv1761194,nssv1761170,nssv1761207,nssv1761171,nssv1761222,nssv1761184,nssv1761256,nssv1761173,nssv1761218,nssv1761172,nssv1761228,nssv1761174,nssv1761202,nssv1761254,nssv1761223,nssv1761248,nssv1761236,nssv1761180,nssv1761209,nssv1761220,nssv1761219,nssv1761215,nssv1761210,nssv1761212,nssv1761242,nssv1761226,nssv1761237,nssv1761192,nssv1761259,nssv1761264,nssv1761234,nssv1761217,nssv1761196,nssv1761241,nssv1761214,nssv1761262,nssv1761169,nssv1761213,nssv1761216,nssv1761239,nssv1761240,nssv1761238,nssv1761211,nssv1761257 M 97 10 0 RIMKLA HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945904 1 42727874 42730715 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761278,nssv1762263,nssv1761290,nssv1761335,nssv1761287,nssv1761314,nssv1761273,nssv1761332,nssv1761283,nssv1762265,nssv1761271,nssv1761327,nssv1761280,nssv1761309,nssv1761294,nssv1762264,nssv1761274,nssv1761319,nssv1762275,nssv1761320,nssv1761285,nssv1761321,nssv1761284,nssv1761289,nssv1761286,nssv1762285,nssv1762276,nssv1761310,nssv1761282,nssv1761299,nssv1762271,nssv1761312,nssv1761297,nssv1761324,nssv1761279,nssv1761331,nssv1762269,nssv1761311,nssv1762273,nssv1761306,nssv1761272,nssv1761317,nssv1762267,nssv1761308,nssv1761288,nssv1762266,nssv1762270,nssv1762262,nssv1761275,nssv1761313,nssv1762272,nssv1762286,nssv1761269,nssv1762282,nssv1761268,nssv1761322,nssv1761267,nssv1761292,nssv1762274,nssv1761298,nssv1761270,nssv1761329,nssv1761277,nssv1762279,nssv1761281,nssv1761326,nssv1762268,nssv1762261,nssv1761295,nssv1761325,nssv1761276,nssv1761293,nssv1761266,nssv1761302,nssv1761305,nssv1761330,nssv1761303,nssv1761301,nssv1762260,nssv1761318,nssv1761300,nssv1761304,nssv1761291,nssv1761296,nssv1761315,nssv1761328,nssv1762277,nssv1762283,nssv1762278,nssv1761316,nssv1762280,nssv1762281,nssv1761334,nssv1761323,nssv1762284,nssv1761333,nssv1761307 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945905 1 42737230 42765442 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762305,nssv1762339,nssv1762296,nssv1762381,nssv1762311,nssv1762322,nssv1762298,nssv1762377,nssv1762289,nssv1762335,nssv1762292,nssv1762338,nssv1762297,nssv1762349,nssv1762308,nssv1762336,nssv1762302,nssv1762331,nssv1762291,nssv1762337,nssv1762364,nssv1762354,nssv1762290,nssv1762334,nssv1762316,nssv1762362,nssv1762306,nssv1762378,nssv1762369,nssv1762363,nssv1762365,nssv1762358,nssv1762304,nssv1762321,nssv1762303,nssv1762342,nssv1762370,nssv1762312,nssv1762295,nssv1762320,nssv1762366,nssv1762350,nssv1762293,nssv1762323,nssv1762301,nssv1762361,nssv1762309,nssv1762380,nssv1762299,nssv1762313,nssv1762294,nssv1762327,nssv1762315,nssv1762344,nssv1762368,nssv1762346,nssv1762300,nssv1762333,nssv1762371,nssv1762324,nssv1762307,nssv1762382,nssv1762372,nssv1762326,nssv1762367,nssv1762356,nssv1762318,nssv1762325,nssv1762288,nssv1762328,nssv1762373,nssv1762353,nssv1762374,nssv1762352,nssv1762345,nssv1762310,nssv1762348,nssv1762383,nssv1762375,nssv1762347,nssv1762332,nssv1762379,nssv1762351,nssv1762341,nssv1762343,nssv1762360,nssv1762359,nssv1762314,nssv1762329,nssv1762330,nssv1762340,nssv1762287,nssv1762357,nssv1762317,nssv1762376,nssv1762319,nssv1762355 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2480910 1 42773311 42774490 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5298591 M 1 1 0 CCDC30 NA18507 esv1025473 1 42773977 42773977 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4104528 M 2 1 0 CCDC30 HuRef nsv829682 1 42827687 43011826 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1445151 M 95 0 1 C1orf50,CCDC30,CLDN19,LEPRE1,PPIH,YBX1 nsv822453 1 42875097 42875537 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423441 M 31 0 1 CCDC30 NA18968 esv2520511 1 42886217 42887782 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5390935 M 1 0 1 CCDC30 NA18507 nsv945906 1 42934659 42935288 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762415,nssv1762444,nssv1762466,nssv1762427,nssv1762401,nssv1762456,nssv1762389,nssv1762455,nssv1762408,nssv1762417,nssv1762405,nssv1762411,nssv1762402,nssv1762443,nssv1762386,nssv1762426,nssv1762399,nssv1762473,nssv1762388,nssv1762384,nssv1762403,nssv1762451,nssv1762462,nssv1762459,nssv1762393,nssv1762435,nssv1762400,nssv1762474,nssv1762391,nssv1762433,nssv1762465,nssv1762478,nssv1762464,nssv1762471,nssv1762396,nssv1762431,nssv1762467,nssv1762434,nssv1762463,nssv1762446,nssv1762390,nssv1762477,nssv1762398,nssv1762409,nssv1762392,nssv1762460,nssv1762412,nssv1762418,nssv1762406,nssv1762432,nssv1762469,nssv1762475,nssv1762387,nssv1762479,nssv1762468,nssv1762439,nssv1762397,nssv1762423,nssv1762394,nssv1762452,nssv1762385,nssv1762414,nssv1762404,nssv1762447,nssv1762413,nssv1762441,nssv1762470,nssv1762454,nssv1762395,nssv1762457,nssv1762461,nssv1762425,nssv1762430,nssv1762458,nssv1762420,nssv1762442,nssv1762421,nssv1762440,nssv1762438,nssv1762428,nssv1762422,nssv1762416,nssv1762424,nssv1762450,nssv1762480,nssv1762445,nssv1762472,nssv1762407,nssv1762429,nssv1762436,nssv1762448,nssv1762437,nssv1762419,nssv1762410,nssv1762476,nssv1762453,nssv1762449 M 97 10 0 YBX1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945907 1 42939103 42941146 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762492,nssv1762545,nssv1762498,nssv1762533,nssv1762486,nssv1762518,nssv1762558,nssv1762521,nssv1762502,nssv1762504,nssv1762567,nssv1762535,nssv1762562,nssv1763495,nssv1762561,nssv1762513,nssv1762512,nssv1762507,nssv1762496,nssv1762526,nssv1762499,nssv1763499,nssv1762500,nssv1762546,nssv1762559,nssv1763500,nssv1762564,nssv1762549,nssv1762497,nssv1763494,nssv1762505,nssv1762551,nssv1762563,nssv1762540,nssv1762484,nssv1762541,nssv1762485,nssv1762550,nssv1762566,nssv1762553,nssv1762495,nssv1762524,nssv1762491,nssv1762516,nssv1762490,nssv1762481,nssv1762503,nssv1763497,nssv1762565,nssv1762548,nssv1762487,nssv1763493,nssv1762483,nssv1762508,nssv1762510,nssv1762523,nssv1762509,nssv1763501,nssv1762493,nssv1762506,nssv1762494,nssv1762534,nssv1762489,nssv1762532,nssv1762482,nssv1762528,nssv1762488,nssv1762529,nssv1762560,nssv1762543,nssv1762501,nssv1762519,nssv1762556,nssv1762531,nssv1763496,nssv1762544,nssv1762536,nssv1762515,nssv1762530,nssv1762552,nssv1762555,nssv1763498,nssv1762511,nssv1762539,nssv1763492,nssv1762517,nssv1762538,nssv1762557,nssv1762554,nssv1762522,nssv1762547,nssv1762525,nssv1762520,nssv1762537,nssv1762542,nssv1762527,nssv1762514 M 97 10 0 YBX1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945908 1 42939103 42955703 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2762726 M 97 1 0 YBX1 HGDP00998 esv3337682 1 43055847 43055866 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678402 M 185 1 0 ERMAP NA19240 esv3308455 1 43055861 43055862 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7842723,essv7842093 M 185 2 0 ERMAP NA19238,NA19240 esv3380077 1 43055865 43055873 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674021,essv8674022 M 185 2 0 ERMAP NA19238,NA19240 nsv546110 1 43076560 43077588 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712659 M 17421 0 1 ERMAP nsv998890 1 43119150 43146118 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479539 M 29084 0 1 LOC339539 nsv945909 1 43126827 43130530 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761761,nssv1761823,nssv1761772,nssv1761845,nssv1761757,nssv1761818,nssv1761769,nssv1761790,nssv1761773,nssv1761800,nssv1761781,nssv1761820,nssv1761760,nssv1761795,nssv1761834,nssv1761791,nssv1761756,nssv1761804,nssv1761758,nssv1761824,nssv1761829,nssv1761821,nssv1761771,nssv1761844,nssv1761830,nssv1761799,nssv1761766,nssv1761785,nssv1761763,nssv1761808,nssv1761768,nssv1761775,nssv1761831,nssv1761801,nssv1761780,nssv1761813,nssv1761762,nssv1761847,nssv1761770,nssv1761809,nssv1761783,nssv1761792,nssv1761765,nssv1761839,nssv1761767,nssv1761789,nssv1761774,nssv1761840,nssv1761838,nssv1761822,nssv1761755,nssv1761793,nssv1761754,nssv1761784,nssv1761833,nssv1761778,nssv1761836,nssv1761841,nssv1761764,nssv1761816,nssv1761759,nssv1761803,nssv1761776,nssv1761806,nssv1761837,nssv1761797,nssv1761832,nssv1761827,nssv1763503,nssv1761796,nssv1761835,nssv1761817,nssv1761819,nssv1761843,nssv1761811,nssv1761825,nssv1761779,nssv1761807,nssv1761794,nssv1761828,nssv1761798,nssv1763502,nssv1761782,nssv1761846,nssv1761786,nssv1761812,nssv1761815,nssv1761814,nssv1761787,nssv1761842,nssv1761848,nssv1761788,nssv1761810,nssv1761826,nssv1761802,nssv1761805,nssv1761777 M 97 10 0 LOC339539 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv461372 1 43128798 43133087 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537763 M 1557 0 1 "" HGDP01029 nsv546111 1 43128798 43133087 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173839 M 17421 0 1 "" HGDP01029 esv7082 1 43142818 43143142 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv29523 M 1 0 0 "" nsv699 1 43145051 43179097 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4150 M 9 1 0 SLC2A1 NA12878 esv2624629 1 43156835 43158509 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5304199 M 1 0 1 "" NA18507 esv2054916 1 43157111 43157797 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4647796 M 1 0 1 "" NA18507 nsv710 1 43307707 43352508 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9088 M 9 0 1 "" NA12156 nsv522391 1 43319407 43348908 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv695171 M 2026 1 0 "" nsv477283 1 43320083 43320083 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015089 M 9 1 0 "" NA18517 nsv518211 1 43331524 43368971 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695634 M 2026 0 1 "" nsv519062 1 43361485 43379318 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696534 M 2026 0 1 "" nsv829693 1 43367715 43551235 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1445162 M 95 0 1 C1orf210,EBNA1BP2,FAM183A,MIR6733,TIE1,TMEM125,WDR65 nsv473567 1 43411976 43411976 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011390 M 9 1 0 WDR65 NA19129 nsv461383 1 43436706 43468295 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537771 M 1557 0 1 WDR65 1780854205_A nsv546112 1 43436706 43468295 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173840 M 17421 0 1 WDR65 1780854205_A esv2565866 1 43466103 43468993 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5306304 M 1 0 1 WDR65 NA18507 nsv546113 1 43466211 43468059 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712660 M 17421 0 1 WDR65 esv27491 1 43466330 43468121 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11904 M 40 0 7 WDR65 NA11894,NA11993,NA18511,NA18861,NA18909,NA19190,NA19225 esv2148585 1 43466457 43468322 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4810378 M 1 0 1 WDR65 NA18507 nsv822464 1 43466498 43468023 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423957,nssv1422368,nssv1437574,nssv1439455,nssv1421449,nssv1432086 M 31 0 6 WDR65 NA18537,NA18547,NA18552,NA18582,NA18972,NA18997 dgv252n54 1 43466655 43468240 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546114,nsv546116,nsv546115,nsv546117 M 17421 0 38 WDR65 dgv253n54 1 43466811 43468240 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546126,nsv546125,nsv546124,nsv546123,nsv546119,nsv546121,nsv546118,nsv546120,nsv546122,nsv546127 M 17421 0 29 WDR65 nsv822476 1 43467483 43468023 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1429559,nssv1425493,nssv1423113,nssv1424733 M 31 0 4 WDR65 AK14,AK2,AK4,NA18999 nsv523115 1 43472557 43478548 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698814 M 2026 0 1 WDR65 nsv508009 1 43503846 43509846 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv624209 M 4 0 0 TMEM125 NA18994 nsv546128 1 43539725 43689996 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712728 M 17421 0 1 CDC20,ELOVL1,HYI,MED8,MIR6734,MIR6735,MPL,SZT2,TIE1 nsv508010 1 43611755 43617755 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621466,nssv624210,nssv618493 M 4 0 0 "" CHM,NA15510,NA18994 esv1418115 1 43613210 43613816 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4247016 M 2 0 1 "" HuRef esv3323794 1 43614944 43615000 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898900 M 185 1 0 "" NA18907 esv3306233 1 43614956 43614957 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7763269,essv7746187,essv7761587 M 185 3 0 "" NA18907,NA19238,NA19240 esv3308354 1 43614981 43614982 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7841617,essv7842439 M 185 2 0 "" NA19238,NA19240 esv3434948 1 43614982 43615001 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678403 M 185 1 0 "" NA19240 esv3336666 1 43614985 43614993 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674023,essv8674024 M 185 2 0 "" NA19238,NA19240 nsv475219 1 43616327 43616327 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012991 M 9 1 0 "" NA19240 esv2560782 1 43629682 43631172 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5319973 M 1 0 1 SZT2 NA18507 esv5810 1 43629832 43630658 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28251 M 1 0 0 SZT2 esv2400702 1 43629867 43630578 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4603718 M 1 0 1 SZT2 NA18507 esv3099 1 43629979 43630451 CNV loss Wang_et_al_2008 18987735 Sequencing essv25540 M 1 0 1 SZT2 YH nsv159253 1 43630058 43630393 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177831 M 24 SZT2 nsv527798 1 43685177 43689996 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704290 M 2026 0 1 HYI,MIR6735,SZT2 nsv438377 1 43689996 43706276 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv470629,nssv470518 M 269 0 2 HYI,SZT2 NA18853,NA18854 dgv157n100 1 43764210 43845007 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004888,nsv1005843 M 29084 2 0 PTPRF nsv519570 1 43777867 43844653 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv674625,nssv673331,nssv675620,nssv662069,nssv705110,nssv682477,nssv703017,nssv657034,nssv660985,nssv686669,nssv656910 M 2026 0 11 PTPRF dgv82e59 1 43797252 43799350 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3431707,esv3412000 M 185 2 0 PTPRF NA19239,NA19240 dgv158n100 1 43797717 43858756 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008051,nsv997446,nsv1009429,nsv1005653,nsv1008451,nsv1000970 M 29084 8 0 PTPRF esv3439174 1 43828275 43832178 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808969 M 185 0 0 PTPRF NA12878 esv7506 1 43831639 43832473 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv29947 M 1 0 0 PTPRF esv2600447 1 43831811 43832591 OTHER inversion McKernan_et_al_2009 19546169 Sequencing essv5210869 M 1 0 0 PTPRF NA18507 nsv513636 1 43831937 43834411 OTHER inversion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626888 M 1 0 0 PTPRF 1 esv3326720 1 43832016 43833761 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808970 M 185 0 0 PTPRF NA12878 esv3445133 1 43834252 43835750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692339 M 185 1 0 PTPRF NA19239 esv3364493 1 43834852 43835750 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692340 M 185 1 0 PTPRF NA19240 nsv822487 1 43861011 43861471 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431805 M 31 0 1 PTPRF AK20 nsv159510 1 43864440 43866796 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178088 M 24 "" esv21836 1 43868154 43879863 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv11621 M 40 1 0 "" NA18505 nsv441691 1 43868287 43878235 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1656650,nssv1656653,nssv1656651,nssv1656652 M 270 4 0 "" NA18505,NA18853,NA19221,NA19222 nsv436807 1 43870339 43877271 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465951 M 2 1 0 "" NA18505 nsv945910 1 43981714 43982303 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761934,nssv1761924,nssv1761932,nssv1761917,nssv1761856,nssv1761891,nssv1761861,nssv1761909,nssv1761854,nssv1761937,nssv1761860,nssv1761922,nssv1761866,nssv1761872,nssv1761873,nssv1761925,nssv1761878,nssv1761940,nssv1761931,nssv1761911,nssv1761877,nssv1761943,nssv1761858,nssv1761915,nssv1761859,nssv1761874,nssv1761853,nssv1761899,nssv1761927,nssv1761884,nssv1761863,nssv1761883,nssv1761870,nssv1761889,nssv1761926,nssv1761898,nssv1761867,nssv1761897,nssv1761869,nssv1761939,nssv1761855,nssv1761896,nssv1761862,nssv1761918,nssv1761857,nssv1761886,nssv1761871,nssv1761945,nssv1761928,nssv1761882,nssv1761852,nssv1761887,nssv1761933,nssv1761888,nssv1761935,nssv1761906,nssv1761851,nssv1761923,nssv1761850,nssv1761944,nssv1761864,nssv1761849,nssv1761868,nssv1761941,nssv1761865,nssv1761921,nssv1761880,nssv1761913,nssv1761930,nssv1761875,nssv1761929,nssv1761890,nssv1761910,nssv1761936,nssv1761905,nssv1761916,nssv1761892,nssv1761900,nssv1761919,nssv1761903,nssv1761938,nssv1761914,nssv1761901,nssv1761881,nssv1761893,nssv1761908,nssv1761907,nssv1761879,nssv1761895,nssv1761894,nssv1761942,nssv1761902,nssv1761885,nssv1761876,nssv1761904,nssv1761920,nssv1761912 M 97 10 0 ST3GAL3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv721 1 44077053 44110963 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1100 M 9 1 0 ST3GAL3 NA19240 nsv546129 1 44102635 44110552 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712729,nssv712730 M 17421 2 0 ST3GAL3 esv29502 1 44109897 44110617 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv18772 M 40 1 0 ST3GAL3 NA06985 nsv546130 1 44109925 44110445 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712731 M 17421 0 1 ST3GAL3 dgv254n54 1 44109925 44110552 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546131,nsv546135 M 17421 105 24 ST3GAL3 nsv546132 1 44109925 44111162 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712754 M 17421 1 0 ST3GAL3 nsv546133 1 44109925 44115760 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712755 M 17421 1 0 ST3GAL3 nsv546134 1 44109925 44130735 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712756 M 17421 1 0 ST3GAL3 nsv546136 1 44109977 44111162 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712864,nssv712865,nssv712866 M 17421 2 1 ST3GAL3 dgv255n54 1 44109977 44117879 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546137,nsv546138 M 17421 3 2 ST3GAL3 nsv546139 1 44110028 44111162 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712872 M 17421 0 1 ST3GAL3 nsv546140 1 44110322 44110552 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712873 M 17421 0 1 ST3GAL3 esv3444496 1 44126082 44126103 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898901,essv8898905,essv8898903,essv8898906,essv8898902 M 185 5 0 ST3GAL3 NA18499,NA18508,NA18912,NA19102,NA19129 esv3304324 1 44126086 44126087 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7761488,essv7756494,essv7758982,essv7755805,essv7758835 M 185 5 0 ST3GAL3 NA18499,NA18508,NA18912,NA19102,NA19129 esv1002363 1 44142591 44144938 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586329 M 3 1 0 ST3GAL3 HuRef esv1721659 1 44143401 44143625 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3901337 M 2 0 1 ST3GAL3 HuRef esv1735166 1 44143642 44143934 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4254684 M 2 0 1 ST3GAL3 HuRef nsv546141 1 44214120 44223821 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712874 M 17421 0 1 ATP6V0B,B4GALT2 nsv732 1 44214949 44231058 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10840 M 9 1 0 ATP6V0B,B4GALT2,CCDC24 NA18956 nsv822498 1 44215549 44216234 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436335 M 31 1 0 ATP6V0B NA18542 nsv546142 1 44228701 44239193 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712875 M 17421 0 1 B4GALT2,CCDC24,SLC6A9 nsv519538 1 44240822 44241618 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv656769,nssv661267,nssv681965 M 2026 0 3 SLC6A9 nsv546143 1 44259867 44297263 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712876 M 17421 0 1 SLC6A9 nsv829704 1 44259986 44425691 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1445185,nssv1445218,nssv1445296,nssv1445240,nssv1445318,nssv1445351,nssv1445307,nssv1445418,nssv1445196,nssv1445362,nssv1445173,nssv1445273,nssv1445229,nssv1445384,nssv1445429,nssv1445407,nssv1445340,nssv1445251,nssv1445440,nssv1445262,nssv1445373,nssv1445284,nssv1445207,nssv1445395,nssv1445329 M 95 0 25 KLF17,SLC6A9 nsv475188 1 44280397 44280397 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017751 M 9 1 0 "" NA19240 nsv945911 1 44331594 44344815 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762953,nssv1762895,nssv1762878,nssv1762965,nssv1762881,nssv1762957,nssv1761949,nssv1762929,nssv1762877,nssv1762935,nssv1762952,nssv1762915,nssv1761951,nssv1762928,nssv1762951,nssv1762909,nssv1762887,nssv1762904,nssv1761948,nssv1762910,nssv1762956,nssv1762943,nssv1762898,nssv1762893,nssv1762891,nssv1762960,nssv1762899,nssv1762900,nssv1762882,nssv1762959,nssv1762894,nssv1762897,nssv1762889,nssv1762925,nssv1761950,nssv1762917,nssv1762948,nssv1762933,nssv1762876,nssv1762946,nssv1762886,nssv1762926,nssv1762888,nssv1762908,nssv1762955,nssv1762903,nssv1762890,nssv1762932,nssv1762892,nssv1762924,nssv1762950,nssv1762911,nssv1762901,nssv1762966,nssv1762883,nssv1762945,nssv1761947,nssv1762930,nssv1762954,nssv1762936,nssv1762884,nssv1762902,nssv1762880,nssv1762940,nssv1762885,nssv1762963,nssv1762879,nssv1762964,nssv1762949,nssv1762922,nssv1762947,nssv1762907,nssv1762931,nssv1762921,nssv1762896,nssv1762939,nssv1762944,nssv1762961,nssv1762913,nssv1762962,nssv1762927,nssv1762918,nssv1761946,nssv1762912,nssv1762934,nssv1762906,nssv1762958,nssv1762919,nssv1762916,nssv1762914,nssv1762937,nssv1762941,nssv1762923,nssv1762938,nssv1762942,nssv1762920,nssv1762905 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2380455 1 44377166 44378056 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4752515 M 1 0 1 "" NA18507 esv1004979 1 44378541 44378624 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3574385 M 3 0 1 "" HuRef esv1447929 1 44378586 44378670 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4352804 M 2 0 1 "" HuRef nsv477015 1 44420345 44420345 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015773 M 9 1 0 "" NA12878 nsv158965 1 44439324 44439324 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv177543 M 24 "" esv998002 1 44468291 44474125 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565736 M 3 0 1 ERI3 HuRef nsv508011 1 44472662 44478662 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618494 M 4 0 0 ERI3 CHM esv3399053 1 44477376 44477395 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9594079 M 185 1 0 ERI3 NA11840 nsv829715 1 44544896 44720377 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1445551,nssv1445540,nssv1445529,nssv1445617,nssv1445562,nssv1445640,nssv1445573,nssv1445484,nssv1445518,nssv1445584,nssv1445662,nssv1445606,nssv1445473,nssv1445629,nssv1445462,nssv1445451,nssv1445595,nssv1445495,nssv1445651,nssv1445506 M 95 20 0 ERI3,RNF220 esv24567 1 44548961 44549591 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10275 M 40 0 1 ERI3 NA18858 nsv514926 1 44593744 44595352 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2868029,nssv2859005,nssv2862958,nssv2861590,nssv2860285,nssv2858939,nssv2859711,nssv2862847,nssv2865740,nssv2860169,nssv2862449,nssv2864480,nssv2863212,nssv2859746,nssv2862165,nssv2858882,nssv2867098,nssv2864152,nssv2868251,nssv2862067,nssv2862794,nssv2860001,nssv2865444,nssv2865991,nssv2863236,nssv2863082,nssv2864053,nssv2867637,nssv2860331,nssv2860013,nssv2864809,nssv2860386,nssv2868267,nssv2859323,nssv2858684,nssv2865945,nssv2864618,nssv2861089,nssv2863730,nssv2864678,nssv2867008,nssv2860734,nssv2858762,nssv2866388,nssv2867205,nssv2861232,nssv2863403,nssv2863483,nssv2867647,nssv2862095,nssv2864668,nssv2862902,nssv2866139,nssv2865978,nssv2859754,nssv2859330,nssv2861783,nssv2858940,nssv2864213,nssv2865481,nssv2864314,nssv2868199,nssv2866309,nssv2863300,nssv2867417,nssv2861917,nssv2867943,nssv2861733,nssv2862987,nssv2861382,nssv2862544,nssv2861647,nssv2867602,nssv2858919,nssv2858668,nssv2860189,nssv2860044,nssv2867354,nssv2865232,nssv2863223,nssv2865820,nssv2867696,nssv2866917,nssv2858895,nssv2859508,nssv2866429,nssv2860745,nssv2858920,nssv2861307,nssv2860640,nssv2862778,nssv2860485,nssv2858865,nssv2858734,nssv2865785,nssv2861411,nssv2864660,nssv2861814,nssv2860721,nssv2865301,nssv2863614,nssv2860818,nssv2858842,nssv2868048,nssv2866243,nssv2859054,nssv2868003,nssv2865647,nssv2863975,nssv2859931,nssv2862033,nssv2860381,nssv2867274,nssv2863078,nssv2863156,nssv2859772,nssv2859206,nssv2865925,nssv2867508,nssv2864989,nssv2862255,nssv2858678,nssv2864101,nssv2865114,nssv2865048,nssv2865242,nssv2863068,nssv2865433,nssv2864597,nssv2863891,nssv2867455,nssv2862242,nssv2867674,nssv2865298,nssv2861478,nssv2862657,nssv2862174,nssv2865689,nssv2860933,nssv2866564,nssv2866597,nssv2865859,nssv2864185,nssv2868427,nssv2862578,nssv2867735,nssv2863099,nssv2862591,nssv2866369,nssv2859273,nssv2862450,nssv2862721,nssv2859309,nssv2868119,nssv2868418,nssv2860444,nssv2861690,nssv2860181,nssv2860018,nssv2860303,nssv2865064,nssv2864677,nssv2867254,nssv2863723,nssv2859462,nssv2863117,nssv2865786,nssv2858600,nssv2859988,nssv2858603,nssv2859167,nssv2860457,nssv2862313,nssv2868295,nssv2860176,nssv2864701,nssv2866494,nssv2863967,nssv2862462,nssv2862131,nssv2859032,nssv2863443,nssv2858741,nssv2864833,nssv2865145,nssv2859910,nssv2867919,nssv2866223,nssv2861946,nssv2862622,nssv2864665,nssv2867483,nssv2858523,nssv2863263,nssv2867239,nssv2867311,nssv2866894,nssv2866918,nssv2865042,nssv2867181,nssv2865770,nssv2866718,nssv2867727,nssv2867291,nssv2862416,nssv2862152,nssv2862158,nssv2864883,nssv2864643,nssv2867151,nssv2862467,nssv2865562,nssv2864848,nssv2866323,nssv2861134,nssv2859317,nssv2868133,nssv2860397,nssv2861684,nssv2858640,nssv2865458,nssv2866506,nssv2868181,nssv2864653,nssv2865994,nssv2859006,nssv2862339,nssv2858836,nssv2862203,nssv2866263,nssv2868311,nssv2861707,nssv2865631,nssv2866774,nssv2865157,nssv2867497,nssv2866511,nssv2861017,nssv2862928,nssv2867172,nssv2862926,nssv2862767,nssv2859409,nssv2867352,nssv2867640,nssv2867910,nssv2863931,nssv2862177,nssv2861529,nssv2860919,nssv2859751,nssv2861634,nssv2867180,nssv2860599,nssv2859615,nssv2859495,nssv2861143,nssv2858997,nssv2860669,nssv2862940,nssv2863491,nssv2858536,nssv2867560,nssv2859387,nssv2866672,nssv2866889,nssv2863020,nssv2862334,nssv2865911,nssv2861856,nssv2860190,nssv2866114,nssv2860870,nssv2865715,nssv2860184,nssv2860174,nssv2861226,nssv2867135,nssv2867579,nssv2860503,nssv2868491,nssv2864943,nssv2864081,nssv2859642,nssv2863386,nssv2858967,nssv2859128,nssv2864453,nssv2859397,nssv2867790,nssv2858754,nssv2866277,nssv2865491,nssv2858608,nssv2863718,nssv2862361,nssv2859905,nssv2866939,nssv2868480,nssv2860970,nssv2864237,nssv2862261,nssv2860944,nssv2862699,nssv2863834,nssv2862218,nssv2862424,nssv2858780,nssv2859053,nssv2867056,nssv2858710,nssv2864232,nssv2864371,nssv2863641,nssv2862260,nssv2867051,nssv2868038,nssv2865826,nssv2860183,nssv2864079,nssv2864537,nssv2861393,nssv2866033,nssv2863318,nssv2864215,nssv2859195,nssv2859525,nssv2865567,nssv2868409,nssv2867428,nssv2867368,nssv2864034,nssv2867109,nssv2859020,nssv2860019,nssv2863109,nssv2863695,nssv2863501,nssv2867950,nssv2861700,nssv2867743,nssv2860352,nssv2864670,nssv2858841,nssv2867799,nssv2859800,nssv2858873,nssv2862099,nssv2861076,nssv2860817,nssv2860714,nssv2867495,nssv2866749,nssv2862346,nssv2867866,nssv2863461,nssv2864132,nssv2860615,nssv2866363,nssv2863708,nssv2859963,nssv2860932,nssv2862231,nssv2864416,nssv2867900,nssv2866293,nssv2861749,nssv2864561,nssv2858535,nssv2865128,nssv2865988,nssv2863442,nssv2868360,nssv2863974,nssv2863961,nssv2858875,nssv2859699,nssv2867877,nssv2863749,nssv2859292,nssv2863332,nssv2858624,nssv2865167,nssv2868404,nssv2861468,nssv2866907,nssv2863642,nssv2862471,nssv2867163,nssv2859500,nssv2861513,nssv2867972,nssv2866933,nssv2859424,nssv2863743,nssv2859721,nssv2865225,nssv2866777,nssv2861206,nssv2859151,nssv2862430,nssv2860807,nssv2862121,nssv2863819,nssv2868118,nssv2863531,nssv2864566,nssv2863703,nssv2862243,nssv2861609,nssv2864100,nssv2866300,nssv2865466,nssv2865971,nssv2861261,nssv2866186,nssv2863675,nssv2866734,nssv2865331,nssv2861418,nssv2866306,nssv2858861,nssv2866143,nssv2867140,nssv2862867,nssv2864325,nssv2861974,nssv2865832,nssv2863243,nssv2867538,nssv2858687,nssv2867212,nssv2866348,nssv2865164,nssv2866075,nssv2865917,nssv2867335,nssv2868120,nssv2859299,nssv2862658,nssv2859377,nssv2863079,nssv2864871,nssv2860548,nssv2867372,nssv2866475,nssv2867762,nssv2858929,nssv2863270,nssv2867909,nssv2859899,nssv2865800,nssv2861689,nssv2861033,nssv2861825,nssv2866213,nssv2866863,nssv2867785,nssv2858827,nssv2864789,nssv2862482,nssv2858698,nssv2863083,nssv2867865,nssv2859720,nssv2864436,nssv2865258,nssv2868124,nssv2858853,nssv2861578,nssv2859324,nssv2867196,nssv2865336,nssv2867818,nssv2868378,nssv2867223,nssv2864642,nssv2862429,nssv2865269,nssv2860786,nssv2863890,nssv2864499,nssv2866187,nssv2867461,nssv2858808,nssv2866925,nssv2867769,nssv2859836 M 2366 488 0 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 esv3387666 1 44629931 44629950 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678405 M 185 1 0 "" NA19240 nsv461395 1 44671585 44892552 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537782 M 1557 1 0 MIR5584,RNF220,TMEM53 1780854105_A nsv546144 1 44671585 44892552 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173841 M 17421 1 0 MIR5584,RNF220,TMEM53 1780854105_A esv3303245 1 44706394 44706395 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7768963,essv7769324,essv7767030,essv7767318,essv7764668,essv7763424,essv7769947,essv7766960,essv7767761 M 185 9 0 RNF220 NA07346,NA07347,NA11881,NA11918,NA11931,NA12234,NA12287,NA12892,NA19239 esv3404107 1 44706400 44706419 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9594124,essv9594146,essv9594135,essv9594101,essv9594113,essv9594090 M 185 6 0 RNF220 NA07346,NA07347,NA11918,NA11931,NA12234,NA12287 esv3308362 1 44706410 44706411 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7837440,essv7838919 M 185 2 0 RNF220 NA19238,NA19240 esv3395208 1 44706420 44706458 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674026,essv8674027 M 185 2 0 RNF220 NA12892,NA19239 esv1005212 1 44745160 44758261 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565520 M 3 0 1 RNF220 HuRef nsv744 1 44752367 44785836 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4160 M 9 1 0 MIR5584,RNF220 NA12878 esv24516 1 44794057 44794784 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10403 M 40 0 1 RNF220 NA19129 esv1001605 1 44855698 44860750 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565131 M 3 1 0 RNF220 HuRef nsv472278 1 44880409 44880409 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017531 M 9 1 0 RNF220 NA18555 nsv478963 1 44953055 44953055 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013971 M 9 1 0 C1orf228 NA18507 nsv998871 1 44969174 45023766 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479514 M 29084 0 1 BEST4,KIF2C,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 nsv476842 1 44986243 44986243 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019939 M 9 1 0 KIF2C NA12878 nsv461406 1 44991129 45066105 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537793 M 1557 0 1 BEST4,BTBD19,KIF2C,PLK3,PTCH2,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4 1780854339_A nsv546145 1 44991129 45066105 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173842 M 17421 0 1 BEST4,BTBD19,KIF2C,PLK3,PTCH2,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4 1780854339_A nsv945912 1 45016428 45021103 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763049,nssv1763035,nssv1762971,nssv1763063,nssv1762974,nssv1763025,nssv1762970,nssv1763062,nssv1762980,nssv1763002,nssv1762976,nssv1763020,nssv1763048,nssv1763013,nssv1762988,nssv1763024,nssv1763052,nssv1763015,nssv1763046,nssv1763037,nssv1762986,nssv1763039,nssv1762983,nssv1763007,nssv1762991,nssv1763038,nssv1762985,nssv1763016,nssv1763045,nssv1763017,nssv1762975,nssv1763001,nssv1762972,nssv1763026,nssv1762977,nssv1763055,nssv1762996,nssv1763059,nssv1763053,nssv1762997,nssv1763044,nssv1762992,nssv1762969,nssv1763019,nssv1762979,nssv1763006,nssv1762978,nssv1763056,nssv1762987,nssv1762990,nssv1762984,nssv1763022,nssv1762989,nssv1763027,nssv1762995,nssv1763008,nssv1763050,nssv1763054,nssv1763051,nssv1763032,nssv1762982,nssv1763061,nssv1762981,nssv1763033,nssv1762968,nssv1763011,nssv1763047,nssv1763042,nssv1762973,nssv1762967,nssv1762998,nssv1762994,nssv1763030,nssv1763012,nssv1763057,nssv1763021,nssv1763018,nssv1763023,nssv1763040,nssv1762999,nssv1763029,nssv1763004,nssv1763043,nssv1763028,nssv1763041,nssv1763060,nssv1763058,nssv1763005,nssv1763009,nssv1763000,nssv1763014,nssv1762993,nssv1763036,nssv1763034,nssv1763031,nssv1763003,nssv1763010 M 97 10 0 RPS8,SNORD38B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv546146 1 45030728 45091339 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712877 M 17421 0 1 BTBD19,EIF2B3,PLK3,PTCH2,TCTEX1D4 nsv546147 1 45037461 45043684 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712878 M 17421 0 1 PLK3 esv1064548 1 45054854 45054941 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3716592 M 2 0 1 "" HuRef nsv945913 1 45081472 45083022 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763147,nssv1763131,nssv1763068,nssv1763129,nssv1763077,nssv1763128,nssv1763092,nssv1763159,nssv1763072,nssv1763134,nssv1763095,nssv1763115,nssv1763081,nssv1763126,nssv1763143,nssv1763124,nssv1763066,nssv1763112,nssv1763070,nssv1763106,nssv1763093,nssv1763113,nssv1763069,nssv1763099,nssv1763071,nssv1763135,nssv1763075,nssv1763107,nssv1763082,nssv1763117,nssv1763085,nssv1763125,nssv1763067,nssv1763110,nssv1763083,nssv1763136,nssv1763080,nssv1763121,nssv1763144,nssv1763152,nssv1763142,nssv1763154,nssv1763074,nssv1763104,nssv1763073,nssv1763089,nssv1763150,nssv1763114,nssv1763076,nssv1763122,nssv1763146,nssv1763103,nssv1763084,nssv1763156,nssv1763088,nssv1763116,nssv1763086,nssv1763119,nssv1763078,nssv1763132,nssv1763145,nssv1763153,nssv1763148,nssv1763139,nssv1763149,nssv1763094,nssv1763079,nssv1763151,nssv1763141,nssv1763123,nssv1763065,nssv1763091,nssv1763109,nssv1763118,nssv1763160,nssv1763096,nssv1763087,nssv1763098,nssv1763137,nssv1763130,nssv1763120,nssv1763157,nssv1763064,nssv1763102,nssv1763108,nssv1763138,nssv1763101,nssv1763111,nssv1763140,nssv1763090,nssv1763100,nssv1763133,nssv1763158,nssv1763097,nssv1763127,nssv1763155,nssv1763105 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2474011 1 45189959 45191530 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5288245 M 1 0 1 EIF2B3 NA18507 esv2630872 1 45190215 45190526 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5303392 M 1 0 1 EIF2B3 NA18507 nsv945915 1 45224827 45228321 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763166,nssv1760893,nssv1763165,nssv1760869,nssv1763169,nssv1760847,nssv1760876,nssv1764420,nssv1760884,nssv1760868,nssv1760883,nssv1760849,nssv1763170,nssv1760845,nssv1763178,nssv1760886,nssv1763171,nssv1760854,nssv1763174,nssv1760857,nssv1760880,nssv1760850,nssv1763182,nssv1764426,nssv1760881,nssv1760851,nssv1760877,nssv1764427,nssv1764424,nssv1760874,nssv1763168,nssv1760866,nssv1764417,nssv1760844,nssv1763180,nssv1760841,nssv1760878,nssv1760890,nssv1763177,nssv1760852,nssv1764421,nssv1760871,nssv1763179,nssv1760835,nssv1763173,nssv1760860,nssv1763164,nssv1760887,nssv1763175,nssv1764419,nssv1763163,nssv1760865,nssv1763167,nssv1760892,nssv1763172,nssv1760858,nssv1760875,nssv1760836,nssv1760882,nssv1760833,nssv1763183,nssv1764423,nssv1764422,nssv1760853,nssv1763176,nssv1760863,nssv1763181,nssv1764425,nssv1763162,nssv1760837,nssv1760879,nssv1760861,nssv1760862,nssv1760885,nssv1760873,nssv1760859,nssv1760856,nssv1760848,nssv1760834,nssv1760839,nssv1764418,nssv1760838,nssv1760894,nssv1760846,nssv1760855,nssv1760872,nssv1760840,nssv1760889,nssv1760891,nssv1764416,nssv1760888,nssv1760842,nssv1760864,nssv1760843,nssv1760867,nssv1763161,nssv1760870 M 97 10 0 EIF2B3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945916 1 45254694 45258272 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1760916,nssv1760988,nssv1760923,nssv1760952,nssv1760900,nssv1760918,nssv1760897,nssv1760960,nssv1760912,nssv1760986,nssv1760913,nssv1760928,nssv1760973,nssv1760943,nssv1760915,nssv1760970,nssv1760981,nssv1760940,nssv1760903,nssv1760922,nssv1760914,nssv1760956,nssv1760976,nssv1760967,nssv1760904,nssv1760964,nssv1760926,nssv1760935,nssv1760924,nssv1760939,nssv1760908,nssv1760951,nssv1760978,nssv1760954,nssv1760911,nssv1760937,nssv1760972,nssv1760921,nssv1760974,nssv1760990,nssv1760977,nssv1760983,nssv1760910,nssv1760895,nssv1760907,nssv1760946,nssv1760980,nssv1760929,nssv1760898,nssv1760965,nssv1760975,nssv1760947,nssv1760917,nssv1760966,nssv1760919,nssv1760963,nssv1760899,nssv1760942,nssv1760905,nssv1760930,nssv1760979,nssv1760962,nssv1760896,nssv1760932,nssv1760906,nssv1760957,nssv1760902,nssv1760931,nssv1760909,nssv1760984,nssv1760901,nssv1760985,nssv1760948,nssv1760949,nssv1760955,nssv1760987,nssv1760934,nssv1760933,nssv1760944,nssv1760959,nssv1760968,nssv1760961,nssv1760953,nssv1760941,nssv1760920,nssv1760989,nssv1760927,nssv1760950,nssv1760971,nssv1760925,nssv1760958,nssv1760991,nssv1760945,nssv1760938,nssv1760936,nssv1760982,nssv1760969 M 97 10 0 ZSWIM5 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv524385 1 45261178 45264091 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700302 M 2026 0 1 ZSWIM5 nsv546148 1 45272881 45400250 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712879 M 17421 0 1 ZSWIM5 nsv945917 1 45306237 45319142 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761013,nssv1761989,nssv1761020,nssv1761027,nssv1761002,nssv1761964,nssv1760997,nssv1761971,nssv1761009,nssv1761987,nssv1761012,nssv1761981,nssv1760999,nssv1761974,nssv1761998,nssv1761025,nssv1761997,nssv1761969,nssv1761000,nssv1761958,nssv1761011,nssv1762006,nssv1761010,nssv1762007,nssv1761005,nssv1761982,nssv1761994,nssv1761968,nssv1761008,nssv1761952,nssv1761007,nssv1761015,nssv1761016,nssv1761953,nssv1761003,nssv1761961,nssv1761021,nssv1761976,nssv1760998,nssv1761978,nssv1761014,nssv1761019,nssv1761023,nssv1761991,nssv1761004,nssv1762008,nssv1762001,nssv1761954,nssv1761999,nssv1761979,nssv1760994,nssv1761966,nssv1760993,nssv1761963,nssv1762000,nssv1762010,nssv1760996,nssv1761018,nssv1762002,nssv1761990,nssv1761993,nssv1762012,nssv1761001,nssv1761965,nssv1761996,nssv1761985,nssv1761006,nssv1761983,nssv1760995,nssv1761026,nssv1761995,nssv1761988,nssv1761955,nssv1761984,nssv1761959,nssv1762011,nssv1761973,nssv1760992,nssv1761957,nssv1761992,nssv1761956,nssv1762004,nssv1761962,nssv1761970,nssv1762003,nssv1761980,nssv1761977,nssv1761967,nssv1761972,nssv1761022,nssv1761986,nssv1762009,nssv1761017,nssv1761024,nssv1762005,nssv1761975,nssv1761960 M 97 10 0 ZSWIM5 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv471868 1 45312644 45312644 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020306 M 9 1 0 ZSWIM5 NA18555 esv24105 1 45407164 45418038 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv9846 M 40 0 1 ZSWIM5 NA12776 esv2760743 1 45407368 45414375 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7027757,essv7027768,essv7027746 M 1109 0 3 ZSWIM5 SW_0190,SW_0621,SW_0815 nsv546149 1 45408389 45414324 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712880 M 17421 0 1 ZSWIM5 dgv256n54 1 45408389 45417684 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546153,nsv546154,nsv546151,nsv546150,nsv546152 M 17421 0 11 ZSWIM5 nsv546155 1 45411057 45415012 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712892 M 17421 0 1 ZSWIM5 nsv546156 1 45411073 45417684 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712893,nssv712894 M 17421 0 2 ZSWIM5 nsv546157 1 45413140 45417684 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712895 M 17421 0 1 ZSWIM5 nsv945918 1 45415202 45433330 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762028,nssv1762101,nssv1762044,nssv1762068,nssv1762092,nssv1762067,nssv1762018,nssv1762059,nssv1762030,nssv1762077,nssv1762034,nssv1762043,nssv1762093,nssv1762058,nssv1762016,nssv1762100,nssv1762022,nssv1762072,nssv1762020,nssv1762106,nssv1762031,nssv1762074,nssv1762094,nssv1762071,nssv1762032,nssv1762049,nssv1762025,nssv1762102,nssv1762091,nssv1762069,nssv1762015,nssv1762065,nssv1762096,nssv1762089,nssv1762017,nssv1762079,nssv1762029,nssv1762083,nssv1762027,nssv1762038,nssv1762042,nssv1762073,nssv1762041,nssv1762055,nssv1762033,nssv1762064,nssv1762037,nssv1762056,nssv1762095,nssv1762084,nssv1762035,nssv1762078,nssv1762021,nssv1762103,nssv1762024,nssv1762066,nssv1762098,nssv1762104,nssv1762026,nssv1762081,nssv1762097,nssv1762109,nssv1762014,nssv1762040,nssv1762023,nssv1762057,nssv1762099,nssv1762088,nssv1762019,nssv1762050,nssv1762090,nssv1762036,nssv1762062,nssv1762070,nssv1762107,nssv1762087,nssv1762047,nssv1762060,nssv1762075,nssv1762085,nssv1762063,nssv1762108,nssv1762086,nssv1762061,nssv1762051,nssv1762048,nssv1762045,nssv1762046,nssv1762082,nssv1762052,nssv1762039,nssv1762076,nssv1762054,nssv1762053,nssv1762013,nssv1762080,nssv1762105 M 97 10 0 ZSWIM5 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv998187 1 45449838 45504964 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700650 M 29084 1 0 "" esv2595167 1 45480959 45482447 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5289473 M 1 0 1 "" NA18507 esv2009066 1 45481052 45482089 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4736500 M 1 0 1 "" NA18507 esv1314250 1 45568295 45568295 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4355410 M 2 1 0 MUTYH HuRef esv2750837 1 45568702 45680850 CNV loss Pinto_et_al_2007 17911159 SNP array essv6984094,essv6984095 M 771 0 2 MUTYH,TESK2,TOE1 BEC_774 nsv945919 1 45652121 45656654 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762114,nssv1762169,nssv1762117,nssv1762198,nssv1762189,nssv1762179,nssv1762125,nssv1762165,nssv1762115,nssv1762133,nssv1762127,nssv1762167,nssv1762134,nssv1762150,nssv1762131,nssv1762156,nssv1762118,nssv1762161,nssv1762121,nssv1762137,nssv1762187,nssv1762136,nssv1762129,nssv1762155,nssv1762190,nssv1762202,nssv1762119,nssv1762152,nssv1762188,nssv1762110,nssv1762126,nssv1762174,nssv1762122,nssv1762197,nssv1762139,nssv1762164,nssv1762141,nssv1762154,nssv1762113,nssv1762162,nssv1762124,nssv1762168,nssv1762191,nssv1762171,nssv1762195,nssv1762203,nssv1762128,nssv1762199,nssv1762138,nssv1762176,nssv1762130,nssv1762166,nssv1762132,nssv1762142,nssv1762123,nssv1762180,nssv1762194,nssv1762153,nssv1762116,nssv1762172,nssv1762112,nssv1762177,nssv1762111,nssv1762181,nssv1762192,nssv1762144,nssv1762120,nssv1762205,nssv1762196,nssv1762135,nssv1762193,nssv1762206,nssv1762183,nssv1762163,nssv1762175,nssv1762143,nssv1762140,nssv1762200,nssv1762201,nssv1762170,nssv1762159,nssv1762186,nssv1762158,nssv1762157,nssv1762145,nssv1762173,nssv1762184,nssv1762147,nssv1762185,nssv1762160,nssv1762146,nssv1762148,nssv1762151,nssv1762204,nssv1762182,nssv1762178,nssv1762149 M 97 10 0 TESK2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv829726 1 45670168 45875773 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1445673 M 95 0 1 AKR1A1,CCDC163P,CCDC17,GPBP1L1,MMACHC,NASP,PRDX1,TESK2 esv1477203 1 45735933 45735933 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4212552 M 2 1 0 CCDC163P HuRef esv1741401 1 45736041 45736041 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4030031 M 2 1 0 CCDC163P HuRef esv1003037 1 45756074 45756169 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570158 M 3 0 1 PRDX1 HuRef nsv479041 1 45836703 45836703 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017462 M 9 0 0 NASP esv3450766 1 45841627 45841646 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678406 M 185 1 0 NASP NA12878 nsv945920 1 45845739 45846471 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762219,nssv1762255,nssv1762213,nssv1761489,nssv1762224,nssv1762256,nssv1762214,nssv1761467,nssv1762236,nssv1762257,nssv1762209,nssv1761470,nssv1762212,nssv1761469,nssv1762225,nssv1762230,nssv1762215,nssv1762241,nssv1762228,nssv1761491,nssv1762222,nssv1762243,nssv1761473,nssv1763185,nssv1762226,nssv1762248,nssv1761480,nssv1761485,nssv1762218,nssv1762245,nssv1761474,nssv1762246,nssv1762223,nssv1762240,nssv1762211,nssv1762253,nssv1761481,nssv1761490,nssv1762220,nssv1761462,nssv1762221,nssv1763196,nssv1761475,nssv1762242,nssv1762235,nssv1762247,nssv1762229,nssv1763184,nssv1762238,nssv1762244,nssv1761479,nssv1762233,nssv1761478,nssv1763194,nssv1762227,nssv1761488,nssv1761476,nssv1763191,nssv1762208,nssv1761464,nssv1762216,nssv1761465,nssv1761477,nssv1762259,nssv1762231,nssv1763195,nssv1762210,nssv1762252,nssv1761472,nssv1761483,nssv1762217,nssv1762239,nssv1762249,nssv1761466,nssv1762207,nssv1763189,nssv1761482,nssv1761484,nssv1763193,nssv1763186,nssv1761486,nssv1762250,nssv1763188,nssv1762234,nssv1763187,nssv1762251,nssv1761463,nssv1762237,nssv1761487,nssv1762232,nssv1763197,nssv1762258,nssv1763190,nssv1761471,nssv1763192,nssv1761468,nssv1762254 M 97 10 0 NASP HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv822509 1 45857566 45862229 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431806 M 31 0 1 CCDC17 AK20 nsv1014128 1 45870257 46167127 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3476542 M 29084 1 0 GPBP1L1,IPP,MAST2,RPS15AP10,TMEM69 nsv945921 1 45889102 45890723 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1761507,nssv1761564,nssv1761501,nssv1761517,nssv1761574,nssv1761556,nssv1761513,nssv1761529,nssv1761497,nssv1761557,nssv1761509,nssv1761585,nssv1761506,nssv1761555,nssv1761503,nssv1761586,nssv1761570,nssv1761552,nssv1761511,nssv1761567,nssv1761500,nssv1761583,nssv1761569,nssv1761522,nssv1761520,nssv1761560,nssv1761508,nssv1761531,nssv1761578,nssv1761544,nssv1761512,nssv1761532,nssv1761505,nssv1761527,nssv1761495,nssv1761565,nssv1761494,nssv1761530,nssv1761577,nssv1761554,nssv1761516,nssv1761582,nssv1761504,nssv1761559,nssv1761514,nssv1761526,nssv1761573,nssv1761545,nssv1761502,nssv1761542,nssv1761571,nssv1761587,nssv1761576,nssv1761549,nssv1761510,nssv1761541,nssv1761493,nssv1761550,nssv1761572,nssv1761528,nssv1761499,nssv1761579,nssv1761575,nssv1761566,nssv1761496,nssv1761547,nssv1761521,nssv1761543,nssv1761523,nssv1761524,nssv1761498,nssv1761515,nssv1761561,nssv1761540,nssv1761538,nssv1761588,nssv1761533,nssv1761562,nssv1761568,nssv1761548,nssv1761553,nssv1761546,nssv1761535,nssv1761536,nssv1761558,nssv1761580,nssv1761534,nssv1761518,nssv1761492,nssv1761563,nssv1761581,nssv1761551,nssv1761537,nssv1761584,nssv1761525,nssv1761519,nssv1761539 M 97 10 0 GPBP1L1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv479972 1 45916675 45916675 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015095 M 9 0 0 GPBP1L1 nsv473336 1 45918236 45918236 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014441 M 9 1 0 GPBP1L1 NA19129 nsv945922 1 45931361 45932903 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762590,nssv1761615,nssv1762596,nssv1761633,nssv1761594,nssv1761639,nssv1762597,nssv1762573,nssv1762598,nssv1761622,nssv1761595,nssv1761638,nssv1761610,nssv1761614,nssv1761606,nssv1762577,nssv1762599,nssv1762579,nssv1761620,nssv1762582,nssv1762593,nssv1761631,nssv1761592,nssv1762574,nssv1761617,nssv1761643,nssv1761604,nssv1762608,nssv1761618,nssv1762601,nssv1762595,nssv1761636,nssv1761600,nssv1761616,nssv1761607,nssv1762609,nssv1761603,nssv1762586,nssv1761599,nssv1762580,nssv1761591,nssv1762606,nssv1761608,nssv1761634,nssv1761601,nssv1762605,nssv1761602,nssv1761619,nssv1761609,nssv1762581,nssv1761611,nssv1761635,nssv1761598,nssv1762572,nssv1761590,nssv1762589,nssv1762594,nssv1761628,nssv1761605,nssv1761624,nssv1762591,nssv1761632,nssv1762592,nssv1762578,nssv1761593,nssv1762585,nssv1761597,nssv1761642,nssv1761613,nssv1761626,nssv1761596,nssv1761629,nssv1762568,nssv1762603,nssv1762602,nssv1761625,nssv1761640,nssv1762607,nssv1761627,nssv1762588,nssv1762575,nssv1762600,nssv1761623,nssv1762571,nssv1761637,nssv1761621,nssv1762587,nssv1761589,nssv1761612,nssv1762604,nssv1761630,nssv1762576,nssv1762583,nssv1762584,nssv1761641,nssv1762570,nssv1762569 M 97 10 0 IPP,TMEM69 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv1007960 1 45940855 45941385 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565778 M 3 1 0 IPP HuRef nsv436781 1 45941452 45941819 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465962 M 2 1 0 IPP NA18505 dgv159n100 1 45944423 46235599 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006891,nsv1009355,nsv1000498 M 29084 3 0 IPP,MAST2 esv1730955 1 45948103 45948501 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3787047 M 2 0 1 IPP HuRef esv2023284 1 45979693 45980375 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4956642 M 1 0 1 IPP NA18507 esv4646 1 45979810 45980266 CNV loss Wang_et_al_2008 18987735 Sequencing essv27087 M 1 0 1 IPP YH nsv159558 1 45979883 45980194 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178136 M 24 IPP nsv546158 1 45989162 46268021 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712896 M 17421 1 0 MAST2 nsv1013628 1 45994204 46129152 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3476789 M 29084 1 0 MAST2 dgv257n54 1 45995673 46188935 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546159,nsv546160 M 17421 2 0 MAST2 HGDP01189 nsv461417 1 45995673 46188935 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537804 M 1557 1 0 MAST2 HGDP01189 esv2170120 1 46007019 46007443 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4851842 M 1 0 1 "" NA18507 nsv524147 1 46008685 46210663 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv700026 M 2026 1 0 MAST2 nsv436292 1 46015346 46024503 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465973 M 2 0 1 "" NA18505 esv25258 1 46016872 46023933 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17370 M 40 0 1 "" NA18505 nsv945923 1 46019390 46021057 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762621,nssv1762662,nssv1762627,nssv1762642,nssv1762689,nssv1762685,nssv1762695,nssv1762684,nssv1762615,nssv1762646,nssv1762631,nssv1762686,nssv1762696,nssv1762673,nssv1762629,nssv1762704,nssv1762622,nssv1762676,nssv1762620,nssv1762667,nssv1762628,nssv1762681,nssv1762688,nssv1762701,nssv1762618,nssv1762644,nssv1762626,nssv1762656,nssv1762614,nssv1762663,nssv1762619,nssv1762674,nssv1762690,nssv1762635,nssv1762630,nssv1762651,nssv1762616,nssv1762698,nssv1762625,nssv1762655,nssv1762692,nssv1762680,nssv1762624,nssv1762643,nssv1762632,nssv1762678,nssv1762641,nssv1762650,nssv1762617,nssv1762669,nssv1762613,nssv1762649,nssv1762694,nssv1762633,nssv1762691,nssv1762664,nssv1762639,nssv1762640,nssv1762693,nssv1762702,nssv1762611,nssv1762677,nssv1762638,nssv1762703,nssv1762623,nssv1762699,nssv1762687,nssv1762705,nssv1762612,nssv1762654,nssv1762634,nssv1762636,nssv1762647,nssv1762679,nssv1762682,nssv1762683,nssv1762648,nssv1762670,nssv1762675,nssv1762645,nssv1762637,nssv1762653,nssv1762666,nssv1762652,nssv1762672,nssv1762665,nssv1762610,nssv1762668,nssv1762657,nssv1762700,nssv1762671,nssv1762661,nssv1762658,nssv1762660,nssv1762706,nssv1762697,nssv1762659 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv437479 1 46045466 46183733 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467360 M 60 0 1 MAST2 NA07029 nsv1013729 1 46058916 46136467 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3476935 M 29084 1 0 MAST2 nsv1009527 1 46058916 46292714 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700652 M 29084 1 0 MAST2,PIK3R3 nsv945924 1 46073163 46074780 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762731,nssv1762758,nssv1762713,nssv1762782,nssv1762711,nssv1762757,nssv1762736,nssv1762803,nssv1762788,nssv1762769,nssv1762714,nssv1762776,nssv1762789,nssv1762707,nssv1762784,nssv1762740,nssv1762712,nssv1762794,nssv1762724,nssv1762750,nssv1762790,nssv1762783,nssv1762787,nssv1762780,nssv1762728,nssv1762743,nssv1762792,nssv1762773,nssv1762786,nssv1762801,nssv1762710,nssv1762755,nssv1762725,nssv1762733,nssv1762726,nssv1762768,nssv1762709,nssv1762756,nssv1762785,nssv1762798,nssv1762716,nssv1762749,nssv1762723,nssv1762764,nssv1762721,nssv1762771,nssv1762793,nssv1762781,nssv1762719,nssv1762759,nssv1762718,nssv1762732,nssv1762727,nssv1762778,nssv1762722,nssv1762760,nssv1762729,nssv1762753,nssv1762717,nssv1762766,nssv1762791,nssv1762741,nssv1762708,nssv1762767,nssv1762735,nssv1762775,nssv1762720,nssv1762795,nssv1762715,nssv1762754,nssv1762738,nssv1762734,nssv1762742,nssv1762737,nssv1762763,nssv1762777,nssv1762752,nssv1762746,nssv1762770,nssv1762774,nssv1762761,nssv1762751,nssv1762799,nssv1762800,nssv1762779,nssv1762762,nssv1762739,nssv1762730,nssv1762747,nssv1762772,nssv1762802,nssv1762748,nssv1762797,nssv1762744,nssv1762765,nssv1762745,nssv1762796 M 97 10 0 MAST2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv546161 1 46083862 46270962 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712898 M 17421 1 0 MAST2 nsv1003554 1 46103841 46183244 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466338 M 29084 1 0 MAST2 esv3307196 1 46105777 46105778 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7761146,essv7748306 M 185 2 0 MAST2 NA18573,NA18940 esv3448249 1 46105779 46105833 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898907,essv8898908 M 185 2 0 MAST2 NA18573,NA18940 esv2761743 1 46112445 46799330 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7027779,essv7027790 M 1109 2 0 DMBX1,FAAH,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,NSUN4,PIK3R3,POMGNT1,RAD54L,TSPAN1,UQCRH SW_1193,SW_1505 nsv472806 1 46121207 46121207 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014902 M 9 1 0 MAST2 NA18555 nsv10139 1 46125048 46150358 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv19103 M 31 1 0 MAST2 NA18972 nsv829737 1 46125487 46279011 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1445695,nssv1445928,nssv1445784,nssv1445884,nssv1445751,nssv1445906,nssv1445773,nssv1445706,nssv1445717,nssv1445795,nssv1445895,nssv1445762,nssv1445862,nssv1445806,nssv1445917,nssv1445684,nssv1445817,nssv1445851,nssv1445728,nssv1445740,nssv1445873,nssv1445839,nssv1445828 M 95 23 0 MAST2,PIK3R3 esv2583928 1 46137998 46139522 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5204188 M 1 0 1 MAST2 NA18507 esv9144 1 46138459 46139221 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31585 M 1 0 0 MAST2 esv1000231 1 46138520 46139108 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565041 M 3 0 1 MAST2 HuRef esv5205 1 46138661 46139087 CNV loss Wang_et_al_2008 18987735 Sequencing essv27646 M 1 0 1 MAST2 YH esv1778390 1 46138712 46139041 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3681392 M 2 0 1 MAST2 HuRef esv3368524 1 46143436 46143447 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863692,essv7863693 M 185 2 0 MAST2 NA11992,NA18522 nsv522438 1 46235468 46273580 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705796 M 2026 0 1 MAST2 nsv1007750 1 46243880 46325151 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700653 M 29084 1 0 MAST2,PIK3R3 nsv515934 1 46266047 46275423 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv661378,nssv676725,nssv665376,nssv702190,nssv689962,nssv700228 M 2026 0 6 MAST2 nsv508012 1 46312696 46318696 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621467 M 4 0 0 PIK3R3 NA15510 nsv475809 1 46358898 46358898 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018598 M 9 1 0 PIK3R3 NA12878 nsv527878 1 46421633 46432882 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv704379 M 2026 1 0 POMGNT1,TSPAN1 nsv822520 1 46423073 46434288 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431807 M 31 0 1 POMGNT1,TSPAN1 AK20 nsv470711 1 46432882 46583117 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547729 M 443 1 0 LRRC41,LURAP1,NSUN4,POMGNT1,RAD54L,UQCRH HGDP01223 esv3326121 1 46451608 46451627 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9594201,essv9594212,essv9594190,essv9594179,essv9594157,essv9594168 M 185 6 0 LURAP1,POMGNT1 NA07346,NA11881,NA11918,NA12815,NA18970,NA19141 esv3306122 1 46451617 46451618 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7767787,essv7767539,essv7766998,essv7769614,essv7769955,essv7765795,essv7766060,essv7766432 M 185 8 0 LURAP1,POMGNT1 NA07346,NA11881,NA11918,NA12814,NA12815,NA12873,NA18970,NA19141 esv1137837 1 46451634 46451634 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4125798 M 2 1 0 LURAP1,POMGNT1 HuRef nsv829748 1 46497095 46648709 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1445939 M 95 0 1 FAAH,LRRC41,NSUN4,RAD54L,UQCRH esv3832 1 46575847 46576271 CNV loss Wang_et_al_2008 18987735 Sequencing essv26273 M 1 0 1 "" YH esv22272 1 46578239 46582884 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12311 M 40 0 1 NSUN4 NA12776 nsv546162 1 46580184 46643348 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712899 M 17421 0 1 FAAH,NSUN4 dgv258n54 1 46580629 46582369 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv546163,nsv546164 M 17421 0 2 NSUN4 nsv159955 1 46586130 46592914 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178533 M 24 NSUN4 nsv1009193 1 46712586 46858254 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482658 M 29084 1 0 DMBX1,KNCN,MKNK1,MKNK1-AS1,MOB3C nsv1008246 1 46780431 46842432 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463717,nssv3463957,nssv3700654 M 29084 0 3 KNCN,MKNK1,MKNK1-AS1 nsv755 1 46781904 46813617 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10857 M 9 1 0 KNCN,MKNK1,MKNK1-AS1 NA18956 esv3329869 1 46819652 46821250 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692350 M 185 1 0 MKNK1 NA19239 nsv522319 1 46853328 46866854 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695099 M 2026 0 1 MOB3C nsv1007280 1 46860703 46902175 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475189 M 29084 1 0 ATPAF1 nsv819064 1 46871946 46872189 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419437 M 2 0 1 "" AK1 esv1238931 1 47014731 47014731 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3950932 M 2 1 0 "" HuRef nsv1011086 1 47031665 47077778 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471089 M 29084 1 0 CYP4B1 nsv1010063 1 47036792 47057705 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473801,nssv3476936 M 29084 2 0 CYP4B1 nsv546165 1 47039177 47045372 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712902 M 17421 0 1 CYP4B1 dgv160n100 1 47043529 47094569 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004143,nsv1004246 M 29084 2 0 CYP4B1,CYP4Z2P nsv945927 1 47082124 47090970 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1762822,nssv1763814,nssv1762830,nssv1762855,nssv1763827,nssv1762859,nssv1763821,nssv1762873,nssv1762835,nssv1763511,nssv1762823,nssv1762872,nssv1762820,nssv1762848,nssv1762846,nssv1762860,nssv1762847,nssv1762866,nssv1762842,nssv1763507,nssv1762839,nssv1763815,nssv1762825,nssv1762851,nssv1762829,nssv1762856,nssv1762837,nssv1763801,nssv1763822,nssv1762845,nssv1762836,nssv1763512,nssv1762838,nssv1762869,nssv1762849,nssv1762862,nssv1762834,nssv1762850,nssv1762828,nssv1763510,nssv1763823,nssv1763508,nssv1762824,nssv1763513,nssv1763820,nssv1763803,nssv1762827,nssv1762861,nssv1763824,nssv1762844,nssv1762826,nssv1763816,nssv1763819,nssv1763817,nssv1763504,nssv1762865,nssv1762840,nssv1762818,nssv1762832,nssv1762868,nssv1762833,nssv1762843,nssv1763826,nssv1762874,nssv1763825,nssv1762875,nssv1762819,nssv1763506,nssv1762831,nssv1763806,nssv1762821,nssv1763812,nssv1763808,nssv1762867,nssv1762854,nssv1763514,nssv1763509,nssv1762864,nssv1762871,nssv1763807,nssv1762841,nssv1762852,nssv1762863,nssv1763811,nssv1762853,nssv1763804,nssv1763809,nssv1763800,nssv1763505,nssv1763818,nssv1763802,nssv1762857,nssv1763813,nssv1762870,nssv1763810,nssv1762858,nssv1763805 M 97 10 0 CYP4Z2P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv525401 1 47090987 47102234 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701524 M 2026 0 1 CYP4Z2P nsv1009338 1 47131119 47327840 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467495 M 29084 1 0 CYP4A11,CYP4X1,CYP4Z1,CYP4Z2P esv2763300 1 47131119 47401361 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7027801 M 1109 1 0 CYP4A11,CYP4A22,CYP4X1,CYP4Z1,CYP4Z2P SW_1456 nsv945928 1 47165325 47187200 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763524,nssv1763588,nssv1763518,nssv1763578,nssv1763526,nssv1763604,nssv1763595,nssv1763553,nssv1763546,nssv1763554,nssv1763543,nssv1763580,nssv1763535,nssv1763552,nssv1763527,nssv1763605,nssv1763592,nssv1763550,nssv1763532,nssv1763549,nssv1763601,nssv1763570,nssv1763520,nssv1763558,nssv1763528,nssv1763568,nssv1763598,nssv1763566,nssv1763536,nssv1763556,nssv1763517,nssv1763581,nssv1763534,nssv1763585,nssv1763594,nssv1763575,nssv1763519,nssv1763541,nssv1763529,nssv1763540,nssv1763597,nssv1763551,nssv1763531,nssv1763602,nssv1763522,nssv1763563,nssv1763593,nssv1763571,nssv1763544,nssv1763564,nssv1763521,nssv1763579,nssv1763533,nssv1763572,nssv1763539,nssv1763557,nssv1763596,nssv1763577,nssv1763530,nssv1763559,nssv1763600,nssv1763586,nssv1763537,nssv1763538,nssv1763599,nssv1763609,nssv1763525,nssv1763542,nssv1763523,nssv1763610,nssv1763516,nssv1763573,nssv1763545,nssv1763561,nssv1763582,nssv1763584,nssv1763608,nssv1763567,nssv1763607,nssv1763565,nssv1763587,nssv1763574,nssv1763576,nssv1763603,nssv1763515,nssv1763583,nssv1763547,nssv1763591,nssv1763611,nssv1763589,nssv1763569,nssv1763548,nssv1763560,nssv1763590,nssv1763606,nssv1763555,nssv1763562 M 97 10 0 CYP4A11 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv546166 1 47180326 47268192 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712903 M 17421 0 1 CYP4X1 nsv461428 1 47260172 47296851 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537815 M 1557 1 0 CYP4X1 HGDP00674 nsv546167 1 47260172 47296851 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173844 M 17421 1 0 CYP4X1 HGDP00674 esv24824 1 47338177 47346769 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13964 M 40 0 1 CYP4Z1 NA18502 nsv945929 1 47351338 47390082 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763623,nssv1763687,nssv1763618,nssv1763660,nssv1763633,nssv1763612,nssv1763615,nssv1763683,nssv1763694,nssv1763703,nssv1763619,nssv1763674,nssv1763626,nssv1763644,nssv1763629,nssv1763688,nssv1763620,nssv1763708,nssv1763624,nssv1763666,nssv1763617,nssv1763651,nssv1763691,nssv1763663,nssv1763641,nssv1763686,nssv1763625,nssv1763680,nssv1763631,nssv1763685,nssv1763616,nssv1763653,nssv1763622,nssv1763657,nssv1763640,nssv1763681,nssv1763689,nssv1763652,nssv1763643,nssv1763677,nssv1763628,nssv1763675,nssv1763690,nssv1763670,nssv1763697,nssv1763667,nssv1763630,nssv1763678,nssv1763695,nssv1763650,nssv1763698,nssv1763649,nssv1763693,nssv1763682,nssv1763632,nssv1763648,nssv1763636,nssv1763668,nssv1763614,nssv1763665,nssv1763621,nssv1763655,nssv1763634,nssv1763647,nssv1763696,nssv1763699,nssv1763692,nssv1763701,nssv1763627,nssv1763700,nssv1763613,nssv1763656,nssv1763672,nssv1763654,nssv1763669,nssv1763646,nssv1763639,nssv1763661,nssv1763684,nssv1763642,nssv1763676,nssv1763679,nssv1763638,nssv1763645,nssv1763702,nssv1763635,nssv1763706,nssv1763658,nssv1763664,nssv1763671,nssv1763707,nssv1763662,nssv1763673,nssv1763637,nssv1763704,nssv1763705,nssv1763659 M 97 10 0 CYP4A22,CYP4Z1 HGDP00