variantaccession chr start end varianttype variantsubtype reference pubmedid method platform mergedvariants supportingvariants mergedorsample frequency samplesize observedgains observedlosses cohortdescription genes samples nsv482937 1 1 2300000 CNV loss Iafrate_et_al_2004 15286789 BAC aCGH,FISH nssv2995976 M 39 0 1 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,FAM87B,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LINC01128,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MIR6723,MIR6726,MIR6727,MIR6808,MIR6859-1,MIR6859-2,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P dgv1n82 1 10001 22118 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nsv945697,nsv945698 M 97 10 0 DDX11L1,MIR6859-1,MIR6859-2,WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv7879 1 10001 127330 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv14786,nssv14785,nssv14773,nssv14772,nssv14781,nssv14771,nssv14775,nssv14762,nssv14764,nssv18103,nssv14766,nssv14770,nssv14777,nssv14789,nssv14782,nssv14788,nssv18117,nssv14790,nssv14791,nssv14784,nssv14776,nssv14787,nssv21423,nssv14783,nssv14763,nssv14780,nssv14774,nssv14768,nssv18113,nssv18093 M 31 25 1 DDX11L1,FAM138A,FAM138F,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 esv3648995 1 10151 10389 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16463302 M 20 0 0 "" nsv958854 1 10191 10281 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005193 M 1 0 1 "" BILGI_BIOE nsv428112 1 10377 177417 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv450130 M 62 1 0 DDX11L1,FAM138A,FAM138F,LOC729737,MIR6859-1,MIR6859-2,OR4F5,WASH7P HGDP01088 esv2758911 1 10377 1018704 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,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 10499 177368 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv16041,esv19525,esv19430,esv20178,esv14423,esv15038,esv17542 M 40 32 6 DDX11L1,FAM138A,FAM138F,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 nsv3319479 1 10501 78200 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14489413,nssv14482516,nssv14487076,nssv14484412 M 14 4 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,OR4F5,WASH7P HG00268,HG02106,HG04217,NA19240 nsv3320784 1 10726 10726 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489056 M 14 1 0 "" HG00268 nsv1147468 1 11099 47000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000242 M 1 1 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,WASH7P KWB1 dgv1n106 1 11100 29200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1118423,nsv1141121 M 2 2 0 DDX11L1,MIR6859-1,MIR6859-2,WASH7P KWS1,KWS2 dgv1e59 1 11189 36787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3343481,esv3364878 M 185 2 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,WASH7P NA12878,NA19239 nsv1076307 1 11599 72400 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3769696 M 1 1 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,OR4F5,WASH7P KWP1 nsv3319178 1 12601 27100 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14474028,nssv14484130,nssv14473887,nssv14486057,nssv14485912,nssv14484800,nssv14490494,nssv14476828,nssv14484987,nssv14491148,nssv14475430 M 14 11 0 DDX11L1,MIR6859-1,MIR6859-2,WASH7P CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA12878,NA19434 nsv945700 1 22118 22723 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572127,nssv2570974,nssv2571018,nssv2570996,nssv2571007,nssv2570930,nssv2570963,nssv2572228,nssv2570941,nssv2571099,nssv2570985,nssv2570952 M 97 10 0 WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945699 1 22118 35020 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749258,nssv1749217,nssv1755475,nssv1749226,nssv1755466,nssv1749252,nssv1749206,nssv1749255,nssv1755471,nssv1749221,nssv1755469,nssv1749242,nssv1755476,nssv1749209,nssv1755461,nssv1749232,nssv1749257,nssv1749240,nssv1749261,nssv1749213,nssv1749202,nssv1749254,nssv1749265,nssv1749244,nssv1755464,nssv1749220,nssv1755480,nssv1749249,nssv1749214,nssv1749251,nssv1755468,nssv1749236,nssv1749262,nssv1749246,nssv1749210,nssv1749253,nssv1755474,nssv1749219,nssv1749266,nssv1749224,nssv1755478,nssv1749215,nssv1755473,nssv1749237,nssv1755472,nssv1749239,nssv1749264,nssv1749222,nssv1755467,nssv1749235,nssv1749211,nssv1749241,nssv1755477,nssv1749205,nssv1755465,nssv1749208,nssv1749260,nssv1749218,nssv1755463,nssv1749229,nssv1749263,nssv1749248,nssv1755462,nssv1749238,nssv1749204,nssv1749228,nssv1755479,nssv1749250,nssv1749203,nssv1749227,nssv1749259,nssv1749230,nssv1749233,nssv1749207,nssv1749216,nssv1755460,nssv1749225,nssv1749231,nssv1749247,nssv1749243 M 97 10 0 FAM138A,FAM138F,WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945484 1 23661 24819 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575222,nssv2575223,nssv2576583,nssv2575215,nssv2575214,nssv2576549,nssv2576580,nssv2576561,nssv2570921,nssv2576570,nssv2575209,nssv2576555,nssv2575211,nssv2576560,nssv2574190,nssv2576562,nssv2572827,nssv2575224,nssv2575210,nssv2576574,nssv2572831,nssv2575221,nssv2572962,nssv2576577,nssv2572826,nssv2576572,nssv2576582,nssv2576556,nssv2572821,nssv2576186,nssv2576581,nssv2576552,nssv2570923,nssv2575217,nssv2573987,nssv2575440,nssv2572824,nssv2576548,nssv2572828,nssv2575984,nssv2572829,nssv2576085,nssv2570922,nssv2576566,nssv2572830,nssv2575237,nssv2570920,nssv2576568,nssv2576584,nssv2576565,nssv2572861,nssv2572738,nssv2574088,nssv2576573,nssv2575208,nssv2576567,nssv2575220,nssv2575218,nssv2572822,nssv2576547,nssv2575212,nssv2575338,nssv2572823,nssv2576557,nssv2572820,nssv2576559,nssv2576585,nssv2576563,nssv2575188,nssv2576569,nssv2575219,nssv2576578,nssv2576550,nssv2576571,nssv2576551,nssv2576579,nssv2575213,nssv2576576,nssv2576558,nssv2576554 M 97 10 0 WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv469759 1 27980 177346 CNV gain Locke_et_al_2006 16826518 BAC aCGH nssv1675941,nssv1672301,nssv1674201,nssv1673353,nssv1672137,nssv1673526,nssv1675248,nssv1673181,nssv1676076,nssv1674071,nssv1675044,nssv1675415,nssv1672641,nssv1676217 M 265 14 0 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P nsv471591 1 27981 177346 CNV loss Sharp_et_al_2005 15918152 BAC aCGH,FISH nssv550437,nssv550438,nssv550436,nssv550435 M 48 0 4 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA10492,NA10970,NA10971,NA17051 esv3433926 1 28989 35387 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 30626 35020 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570932,nssv2570956,nssv2570933,nssv2570939,nssv2570935,nssv2570929,nssv2570927,nssv2570948,nssv2570958,nssv2570949,nssv2570926,nssv2570957,nssv2570959,nssv2570961,nssv2570955,nssv2570977,nssv2570971,nssv2570951,nssv2570969,nssv2570964,nssv2570953,nssv2570976,nssv2570970,nssv2570973,nssv2570940,nssv2570938,nssv2570950,nssv2570967,nssv2570975,nssv2570972,nssv2570944,nssv2570931,nssv2570947,nssv2570966,nssv2570934,nssv2570945,nssv2570968,nssv2570962,nssv2570936,nssv2570937,nssv2570942,nssv2570943,nssv2570960,nssv2570946,nssv2570954,nssv2570965,nssv2570928,nssv2570925 M 97 10 0 FAM138A,FAM138F HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1139462 1 32400 35100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977049 M 2 1 0 FAM138A,FAM138F KWS2 nsv1110123 1 33700 36300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959388 M 2 1 0 FAM138A,FAM138F KWS1 nsv945487 1 35020 41109 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570980,nssv2570979,nssv2570984,nssv2570981,nssv2570986,nssv2570987,nssv2570989,nssv2570978,nssv2570988,nssv2570982,nssv2570983 M 97 10 0 FAM138A,FAM138F HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3411655 1 37489 43587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692270 M 185 1 0 "" NA19238 esv3430433 1 38889 40687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692283 M 185 1 0 "" NA12878 nsv3325054 1 40901 51900 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14483491 M 14 1 0 "" NA12878 esv3368735 1 44989 51487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692302 M 185 1 0 "" NA19238 dgv1n54 1 45531 121042 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544869,nsv544868,nsv544866 M 17421 0 3 OR4F5 esv3369077 1 45789 46987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692306 M 185 1 0 "" NA19239 esv3428396 1 45889 53987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692307 M 185 1 0 "" NA19240 nsv4514092 1 46000 111250 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780793,nssv15780795,nssv15780791,nssv15780796,nssv15780794,nssv15780798,nssv15780792,nssv15780799,nssv15780797 M 10847 0 0 OR4F5 nsv951399 1 46501 71800 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997203 M 1 1 0 OR4F5 BILGI_BIOE esv3439865 1 47689 51487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692320 M 185 1 0 "" NA19239 nsv544867 1 49298 82154 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707616,nssv707617 M 17421 1 1 OR4F5 nsv1112509 1 51800 52300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966608 M 2 0 1 "" KWS2 esv3335281 1 52089 54387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692333 M 185 1 0 "" NA19238 nsv1112510 1 53700 63800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966609 M 2 0 1 "" KWS2 nsv1118083 1 53900 54800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980301 M 2 0 1 "" KWS1 nsv4536437 1 54665 54666 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024555 M 10847 1 0 "" nsv1143416 1 55100 56000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980613 M 2 0 1 "" KWS1 nsv437198 1 55394 86303 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467079 M 60 0 1 OR4F5 NA19208 nsv1126159 1 56400 57400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984385 M 2 0 1 "" KWS1 nsv1143417 1 57600 58500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980614 M 2 0 1 "" KWS1 nsv3324463 1 59599 59599 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14488053 M 14 1 0 "" NA19434 nsv3324042 1 60901 71500 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14478394,nssv14489204,nssv14484668 M 14 3 0 OR4F5 HG00268,HG04217,NA19434 nsv1126160 1 61200 64200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984386 M 2 0 1 "" KWS1 dgv2n100 1 61723 792480 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014330,nsv1004629,nsv1010257,nsv1009070,nsv998573 M 29084 41 6 FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 nsv999242 1 61723 824124 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 61723 837073 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011222,nsv1000964,nsv998077,nsv1002712,nsv1002580,nsv1001532,nsv1011132,nsv1007952,nsv997879,nsv999289,nsv1013955,nsv999814,nsv1010556,nsv1009584,nsv1001549,nsv1011779,nsv999976,nsv1007490,nsv1012687 M 29084 59 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 nsv4036772 1 62399 62489 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851241 M 10847 0 1 "" dgv2e59 1 63489 66287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3333057,esv3353898 M 185 2 0 "" NA19238,NA19240 dgv2n106 1 65800 66900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1143418,nsv1130934 M 2 0 2 "" KWS1,KWS2 nsv437859 1 66008 79078 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv469962,nssv471090,nssv471423,nssv468851,nssv471201,nssv471312,nssv470979,nssv467740 M 269 0 8 OR4F5 NA10831,NA10857,NA12044,NA12155,NA18912,NA18914,NA19207,NA19208 nsv4052037 1 66350 66427 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853163 M 10847 0 1 "" nsv4534208 1 66531 66532 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023685 M 10847 1 0 "" nsv4534800 1 66576 66577 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025254 M 10847 1 0 "" dgv3e59 1 66789 68887 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 68497 70627 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2866525,nssv2862715,nssv2864991,nssv2858700,nssv2867544,nssv2861378,nssv2862825,nssv2860772,nssv2866508,nssv2861190,nssv2860032,nssv2867224,nssv2861677,nssv2867596,nssv2864238,nssv2867651,nssv2859788,nssv2862492,nssv2864295,nssv2861048,nssv2860178,nssv2868367,nssv2866706,nssv2860024,nssv2866887,nssv2862199,nssv2861262,nssv2859388,nssv2868431,nssv2865937,nssv2861109,nssv2862335,nssv2867418,nssv2868486,nssv2859680,nssv2866178,nssv2864815,nssv2860984,nssv2868183,nssv2864968,nssv2861727,nssv2860971,nssv2859613,nssv2864820,nssv2864118,nssv2863165,nssv2865611,nssv2864331,nssv2865754,nssv2859496,nssv2867539,nssv2861479,nssv2864124,nssv2864949,nssv2865753,nssv2867664,nssv2864107,nssv2862192,nssv2861598,nssv2866198,nssv2861708,nssv2863379,nssv2866786,nssv2868005,nssv2862848,nssv2864999,nssv2863400,nssv2863591,nssv2863605,nssv2858788,nssv2862869,nssv2868108,nssv2860629,nssv2862365,nssv2859864,nssv2861660,nssv2863278,nssv2867226,nssv2861909,nssv2860788,nssv2866245,nssv2866559,nssv2859644,nssv2862935,nssv2861962,nssv2866377,nssv2868166,nssv2860077,nssv2866470,nssv2859105,nssv2859630,nssv2860722,nssv2863356,nssv2863454,nssv2863666,nssv2864621,nssv2867567,nssv2866371,nssv2865034,nssv2861368,nssv2859331,nssv2860242,nssv2866676,nssv2860212,nssv2859667,nssv2860399,nssv2863340,nssv2866214,nssv2859451,nssv2865749,nssv2862506,nssv2859919,nssv2864317,nssv2863719,nssv2865664,nssv2860563,nssv2864647,nssv2865098,nssv2863565,nssv2860673,nssv2863788,nssv2863563,nssv2865361,nssv2864540,nssv2860187,nssv2865011,nssv2862629,nssv2862138,nssv2859125,nssv2867808,nssv2860819,nssv2868137,nssv2860422,nssv2866448,nssv2859547,nssv2859426,nssv2861611,nssv2862349,nssv2859384,nssv2866282,nssv2864744,nssv2860682,nssv2860704,nssv2858735,nssv2863257,nssv2862647,nssv2867504,nssv2867841,nssv2859914,nssv2865484,nssv2861540,nssv2860935,nssv2858799,nssv2858896,nssv2864239,nssv2866593,nssv2867343,nssv2866257,nssv2863543,nssv2863101,nssv2860782,nssv2860627,nssv2862970,nssv2867901,nssv2864843,nssv2863524,nssv2858675,nssv2867873,nssv2863485,nssv2866062,nssv2859079,nssv2867650,nssv2862796,nssv2862774,nssv2866480,nssv2862824,nssv2859883,nssv2864859,nssv2864517,nssv2861958,nssv2859822,nssv2860715,nssv2864750,nssv2859022,nssv2864878,nssv2858528,nssv2858575,nssv2864356,nssv2858768,nssv2864900,nssv2862589,nssv2865279,nssv2867787,nssv2860789,nssv2859204,nssv2865860,nssv2866855,nssv2863568,nssv2858870,nssv2864418,nssv2860233,nssv2864340,nssv2862096,nssv2866045,nssv2858998,nssv2866234,nssv2864915,nssv2863085,nssv2859094,nssv2865293,nssv2860623,nssv2867410,nssv2866673,nssv2864514,nssv2860343,nssv2861308,nssv2868000,nssv2858559,nssv2867827,nssv2864218,nssv2863432,nssv2867549,nssv2858866,nssv2865409,nssv2863855,nssv2863237,nssv2865735,nssv2859842,nssv2864277,nssv2867208,nssv2862223,nssv2859048,nssv2859274,nssv2866655,nssv2866269,nssv2860690,nssv2862812,nssv2866294,nssv2868096,nssv2865160,nssv2861183,nssv2865417,nssv2862898,nssv2867535,nssv2866252,nssv2861515,nssv2865129,nssv2861561,nssv2860747,nssv2861101,nssv2862633,nssv2863993,nssv2859968,nssv2864825,nssv2867263,nssv2867616,nssv2864208,nssv2864020,nssv2861692,nssv2862601,nssv2864526,nssv2864672,nssv2858884,nssv2865841,nssv2863741,nssv2865669,nssv2862385,nssv2863214,nssv2863171,nssv2868351,nssv2867259,nssv2865521,nssv2862650,nssv2863149,nssv2860020,nssv2866940,nssv2865284,nssv2862930,nssv2861367,nssv2864246,nssv2858825,nssv2863089,nssv2867398,nssv2867485,nssv2866382,nssv2860942,nssv2859290,nssv2862788,nssv2868419,nssv2860838,nssv2862006,nssv2863534,nssv2861172,nssv2863065,nssv2866522,nssv2864712,nssv2860672,nssv2863617,nssv2862713,nssv2865369,nssv2859776,nssv2866359,nssv2865146,nssv2862538,nssv2862436,nssv2861250,nssv2865947,nssv2860210,nssv2868151,nssv2865815,nssv2867399,nssv2860687,nssv2863010,nssv2867142,nssv2867258,nssv2859489,nssv2866148,nssv2868077,nssv2860951,nssv2859063,nssv2867562,nssv2865588,nssv2862418,nssv2862299,nssv2859117,nssv2866507,nssv2862087,nssv2859693,nssv2867294,nssv2863944,nssv2860253,nssv2865147,nssv2859541,nssv2859934,nssv2867849,nssv2867078,nssv2867619,nssv2863102,nssv2866560,nssv2860335,nssv2861512,nssv2864864,nssv2859301,nssv2867969,nssv2858755,nssv2867615,nssv2860945,nssv2867068,nssv2867498,nssv2860681,nssv2868423,nssv2868296,nssv2867452,nssv2863363,nssv2867781,nssv2865957,nssv2863950,nssv2861581,nssv2867381,nssv2860526,nssv2867083,nssv2862159,nssv2864530,nssv2863069,nssv2860832,nssv2861396,nssv2864852,nssv2859861,nssv2866813,nssv2868265,nssv2864983,nssv2859332,nssv2867588,nssv2859540,nssv2859712,nssv2861485,nssv2867088,nssv2863842,nssv2865964,nssv2860365,nssv2862690,nssv2858883,nssv2868454,nssv2860038,nssv2861391,nssv2861154,nssv2860414,nssv2862733,nssv2866610,nssv2858633,nssv2865040,nssv2860153,nssv2864123,nssv2866378,nssv2863732,nssv2858572,nssv2866438,nssv2865628,nssv2862080,nssv2860825,nssv2867603,nssv2861240,nssv2858941,nssv2862036,nssv2860595,nssv2862317,nssv2862501,nssv2863459,nssv2864040,nssv2865874,nssv2861553,nssv2858702,nssv2867670,nssv2865003,nssv2861618,nssv2867361,nssv2867174,nssv2859104,nssv2866290,nssv2866307,nssv2859135,nssv2866514,nssv2859927,nssv2864910,nssv2863552,nssv2865827,nssv2865228,nssv2867938,nssv2865468,nssv2860254,nssv2859869,nssv2865928,nssv2867462,nssv2862291,nssv2864873,nssv2863393,nssv2861924,nssv2862868,nssv2863164,nssv2862079,nssv2860333,nssv2868413,nssv2859300,nssv2863709,nssv2861997,nssv2863475,nssv2864702,nssv2864501,nssv2859913,nssv2858644,nssv2858615,nssv2866018,nssv2863896,nssv2865665,nssv2865513,nssv2865029,nssv2862780,nssv2866710,nssv2867920,nssv2866078,nssv2867728,nssv2865483,nssv2866623,nssv2860124,nssv2859448,nssv2865416,nssv2860873,nssv2862350,nssv2866509,nssv2860437,nssv2868209,nssv2862362,nssv2864784,nssv2867583,nssv2865555,nssv2860286,nssv2861327,nssv2864902,nssv2864223,nssv2867681,nssv2866778,nssv2860377,nssv2865643,nssv2858540,nssv2866100,nssv2859964,nssv2865168,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 73202 137452 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707620 M 17421 0 1 LOC729737 nsv1112511 1 74600 75100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968385,nssv3984387 M 2 0 2 "" KWS1,KWS2 dgv3n106 1 75800 90300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1130935,nsv1143419 M 2 0 2 "" KWS1,KWS2 nsv945701 1 77882 88084 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750673,nssv1749372,nssv1749275,nssv1749383,nssv1749274,nssv1750429,nssv1749299,nssv1750440,nssv1749284,nssv1749295,nssv1749269,nssv1750551,nssv1749282,nssv1749305,nssv1749271,nssv1749450,nssv1749294,nssv1750496,nssv1749272,nssv1750451,nssv1750662,nssv1749361,nssv1749273,nssv1749438,nssv1749280,nssv1749297,nssv1749290,nssv1750540,nssv1749283,nssv1749296,nssv1749288,nssv1750518,nssv1749285,nssv1749308,nssv1750618,nssv1749405,nssv1749302,nssv1749394,nssv1750640,nssv1749472,nssv1749276,nssv1749268,nssv1749291,nssv1749483,nssv1749292,nssv1749427,nssv1749277,nssv1749315,nssv1750695,nssv1749350,nssv1749287,nssv1749303,nssv1749298,nssv1750462,nssv1750629,nssv1750485,nssv1749286,nssv1749307,nssv1750684,nssv1749293,nssv1750607,nssv1750584,nssv1749270,nssv1750507,nssv1750596,nssv1749416,nssv1750651,nssv1750418,nssv1749281,nssv1750562,nssv1749279,nssv1749339,nssv1749306,nssv1750529,nssv1749461,nssv1750573,nssv1749301,nssv1749326,nssv1750473,nssv1749304 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4533532 1 79210 79211 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026934 M 10847 1 0 "" nsv1077274 1 83999 86600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768323 M 1 1 0 "" KWP1 nsv945702 1 88084 91317 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751697,nssv1751763,nssv1751730,nssv1751739,nssv1751653,nssv1751751,nssv1751708,nssv1751746,nssv1751741,nssv1751767,nssv1751757,nssv1751771,nssv1751755,nssv1751748,nssv1751761,nssv1751675,nssv1751760,nssv1751750,nssv1751737,nssv1751742,nssv1751766,nssv1751756,nssv1751734,nssv1751764,nssv1751770,nssv1751773,nssv1751686,nssv1751744,nssv1751735,nssv1751740,nssv1751749,nssv1751747,nssv1751719,nssv1751759,nssv1751762,nssv1751736,nssv1750707,nssv1751753,nssv1751752,nssv1751738,nssv1751745,nssv1751758,nssv1751769,nssv1750718,nssv1751768,nssv1751733,nssv1751772,nssv1751664 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv161172 1 88190 89153 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179750 M 24 "" nsv3325309 1 90069 90069 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490620 M 14 1 0 "" NA19240 nsv3325595 1 90179 90179 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472143 M 14 1 0 "" NA19434 nsv3325310 1 90259 90259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474986,nssv14492017,nssv14488477,nssv14489513,nssv14482211,nssv14489823 M 14 6 0 "" HG02059,HG02106,HG02818,HX1,NA19240,NA19434 nsv1126161 1 91000 92100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984388 M 2 0 1 "" KWS1 nsv945705 1 91317 93605 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571009,nssv2568839,nssv2571013,nssv2570999,nssv2571000,nssv2571010,nssv2571001,nssv2571012,nssv2571016,nssv2568844,nssv2571014,nssv2571076,nssv2570995,nssv2568834,nssv2571003,nssv2570997,nssv2568832,nssv2568842,nssv2571032,nssv2568837,nssv2568033,nssv2568846,nssv2571043,nssv2571020,nssv2570993,nssv2568030,nssv2571008,nssv2571100,nssv2571005,nssv2571087,nssv2568843,nssv2571021,nssv2568031,nssv2568840,nssv2568035,nssv2568034,nssv2568830,nssv2571022,nssv2568032,nssv2571019,nssv2570998,nssv2568831,nssv2571004,nssv2568845,nssv2568036,nssv2571011,nssv2571017,nssv2571006,nssv2571002,nssv2571111,nssv2571065,nssv2568835,nssv2568836,nssv2571122,nssv2568833,nssv2568841,nssv2570994,nssv2571015,nssv2571054,nssv2568838 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945704 1 91317 125400 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751782,nssv1751846,nssv1751795,nssv1751816,nssv1751860,nssv1751837,nssv1751785,nssv1751847,nssv1751792,nssv1751831,nssv1751779,nssv1751830,nssv1751856,nssv1751805,nssv1751800,nssv1751850,nssv1751806,nssv1751841,nssv1751777,nssv1751836,nssv1751796,nssv1751851,nssv1751780,nssv1751822,nssv1751809,nssv1751817,nssv1751859,nssv1751811,nssv1751858,nssv1751845,nssv1751802,nssv1751849,nssv1751852,nssv1751774,nssv1751798,nssv1751803,nssv1751784,nssv1751839,nssv1751857,nssv1751826,nssv1751778,nssv1751833,nssv1751793,nssv1751824,nssv1751853,nssv1751829,nssv1751786,nssv1751814,nssv1751855,nssv1751838,nssv1751861,nssv1751820,nssv1751783,nssv1751842,nssv1751862,nssv1751834,nssv1751807,nssv1751812,nssv1751791,nssv1751825,nssv1751775,nssv1751835,nssv1751794,nssv1751815,nssv1751789,nssv1751801,nssv1751790,nssv1751848,nssv1751781,nssv1751827,nssv1751797,nssv1751823,nssv1751813,nssv1751804,nssv1751840,nssv1751818,nssv1751819,nssv1751808,nssv1751828,nssv1751844 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv4e59 1 91589 98387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3379005,esv3411984 M 185 2 0 "" NA19239,NA19240 nsv951073 1 93001 116200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997314 M 1 1 0 "" BILGI_BIOE nsv945494 1 93605 95437 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2568857,nssv2569109,nssv2568854,nssv2568847,nssv2568850,nssv2568900,nssv2568855,nssv2568889,nssv2569032,nssv2568852,nssv2569131,nssv2569087,nssv2569021,nssv2568864,nssv2568859,nssv2568860,nssv2569098,nssv2568878,nssv2568933,nssv2568861,nssv2568944,nssv2568851,nssv2568922,nssv2568856,nssv2568858,nssv2569010,nssv2569076,nssv2568868,nssv2568853,nssv2568988,nssv2568849,nssv2568848,nssv2568999,nssv2568966,nssv2570000,nssv2568955,nssv2569120,nssv2568977,nssv2568865,nssv2569065,nssv2568862,nssv2568863,nssv2569043,nssv2568911,nssv2569054,nssv2568866,nssv2569978,nssv2568867,nssv2569989 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3436859 1 93889 96487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692418 M 185 1 0 "" NA19238 nsv4034659 1 94000 129400 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780871,nssv15780874,nssv15780870,nssv15780872,nssv15780869,nssv15780873,nssv15780875 M 10847 0 0 "" nsv3326012 1 95078 95078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474187,nssv14491011 M 14 2 0 "" CHM13,NA12878 nsv945495 1 95437 96652 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570099,nssv2571171,nssv2570044,nssv2570077,nssv2570088,nssv2571176,nssv2570154,nssv2571177,nssv2571178,nssv2570220,nssv2570132,nssv2570209,nssv2571179,nssv2570264,nssv2570242,nssv2570011,nssv2571169,nssv2570198,nssv2570110,nssv2570055,nssv2570033,nssv2571190,nssv2571183,nssv2570187,nssv2571181,nssv2571189,nssv2571185,nssv2571188,nssv2571170,nssv2571168,nssv2571180,nssv2571173,nssv2571160,nssv2570231,nssv2570253,nssv2571174,nssv2570066,nssv2571182,nssv2570275,nssv2571175,nssv2570022,nssv2570165,nssv2571184,nssv2570176,nssv2570143,nssv2571172,nssv2571187,nssv2570121,nssv2571186 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945496 1 96652 98749 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571201,nssv2571209,nssv2571194,nssv2571206,nssv2571198,nssv2571227,nssv2571199,nssv2571215,nssv2571220,nssv2571208,nssv2571196,nssv2571207,nssv2571203,nssv2571212,nssv2571213,nssv2571210,nssv2571233,nssv2571222,nssv2571226,nssv2571219,nssv2571223,nssv2571239,nssv2571214,nssv2571221,nssv2571236,nssv2571200,nssv2571192,nssv2571234,nssv2571202,nssv2571191,nssv2571211,nssv2571225,nssv2571235,nssv2571224,nssv2571228,nssv2571205,nssv2571238,nssv2571197,nssv2571231,nssv2571229,nssv2571193,nssv2571195,nssv2571232,nssv2571230,nssv2571216,nssv2571237,nssv2571218,nssv2571217,nssv2571204 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945498 1 98749 105358 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571250,nssv2571272,nssv2571243,nssv2571262,nssv2571247,nssv2571253,nssv2571248,nssv2571256,nssv2571287,nssv2571251,nssv2571263,nssv2571261,nssv2571276,nssv2571260,nssv2571270,nssv2571288,nssv2571283,nssv2571282,nssv2571266,nssv2571285,nssv2571279,nssv2571281,nssv2571286,nssv2571271,nssv2571280,nssv2571277,nssv2571284,nssv2571252,nssv2571259,nssv2571274,nssv2571275,nssv2571249,nssv2571273,nssv2571246,nssv2571264,nssv2571269,nssv2571244,nssv2571267,nssv2571255,nssv2571278,nssv2571257,nssv2571268,nssv2571241,nssv2571245,nssv2571265,nssv2571258,nssv2571242,nssv2571254 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3431809 1 99689 100887 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692423 M 185 1 0 "" NA19240 nsv3319231 1 101801 126400 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14472400,nssv14490726,nssv14485989,nssv14482668,nssv14486373,nssv14476158,nssv14481501,nssv14490706,nssv14476829,nssv14482220,nssv14490775,nssv14479654,nssv14472044 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 dgv5e59 1 103089 105787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3329998,esv3336840 M 185 2 0 "" NA19239,NA19240 nsv945500 1 105358 120257 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571299,nssv2571301,nssv2571297,nssv2571304,nssv2571292,nssv2571331,nssv2571296,nssv2571330,nssv2571333,nssv2571293,nssv2571332,nssv2571321,nssv2571372,nssv2571325,nssv2571319,nssv2571314,nssv2571295,nssv2571323,nssv2571305,nssv2571350,nssv2571311,nssv2571317,nssv2571309,nssv2571327,nssv2571324,nssv2571310,nssv2571306,nssv2571361,nssv2571339,nssv2571329,nssv2571328,nssv2571313,nssv2571303,nssv2571300,nssv2571322,nssv2571315,nssv2571308,nssv2571318,nssv2571298,nssv2571316,nssv2571307,nssv2571290,nssv2571326,nssv2571294,nssv2571320,nssv2571302,nssv2571291,nssv2571312 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1076308 1 106699 119600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3767989 M 1 1 0 "" KWP1 dgv6e59 1 106789 109187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3349278,esv3427619 M 185 2 0 "" NA19238,NA19239 esv3441565 1 106789 111287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692436 M 185 1 0 "" NA19240 nsv1128580 1 106800 112800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960491 M 2 1 0 "" KWS1 esv3335040 1 109889 111187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692439 M 185 1 0 "" NA19239 nsv1141123 1 116700 118900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3992630 M 2 1 0 "" KWS2 nsv945503 1 120257 124525 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572417,nssv2573704,nssv2571460,nssv2573671,nssv2572395,nssv2573770,nssv2571416,nssv2572461,nssv2572615,nssv2572516,nssv2573638,nssv2573693,nssv2572450,nssv2571427,nssv2572670,nssv2572582,nssv2572681,nssv2573715,nssv2572593,nssv2572406,nssv2573627,nssv2573737,nssv2571438,nssv2573660,nssv2571449,nssv2572494,nssv2572505,nssv2572571,nssv2571394,nssv2572472,nssv2573726,nssv2572659,nssv2572692,nssv2572439,nssv2572483,nssv2572648,nssv2572549,nssv2573759,nssv2573649,nssv2572428,nssv2571405,nssv2572527,nssv2572560,nssv2572538,nssv2573682,nssv2572604,nssv2573748,nssv2572637,nssv2572626 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv2n54 1 121042 137674 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544871,nsv544872 M 17421 0 2 LOC729737 nsv544873 1 121042 170730 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707623 M 17421 1 0 LOC729737 nsv1118424 1 122200 125000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958930 M 2 1 0 "" KWS1 nsv4039740 1 123350 140100 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780941,nssv15780940,nssv15780935,nssv15780938,nssv15780939,nssv15780937,nssv15780936 M 10847 0 0 LOC729737 nsv945707 1 125400 129243 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573796,nssv2573814,nssv2573788,nssv2573845,nssv2573853,nssv2573844,nssv2573802,nssv2573817,nssv2573803,nssv2573838,nssv2573797,nssv2573828,nssv2573856,nssv2573830,nssv2573807,nssv2573827,nssv2573857,nssv2573826,nssv2573798,nssv2573808,nssv2573795,nssv2573809,nssv2573789,nssv2573847,nssv2573801,nssv2573834,nssv2573794,nssv2573835,nssv2573861,nssv2573822,nssv2573787,nssv2573849,nssv2573804,nssv2573850,nssv2573858,nssv2573840,nssv2573859,nssv2573839,nssv2573860,nssv2573863,nssv2573862,nssv2573851,nssv2573792,nssv2573832,nssv2573784,nssv2573846,nssv2573785,nssv2573831,nssv2573786,nssv2573848,nssv2573790,nssv2573819,nssv2573854,nssv2573824,nssv2573805,nssv2573821,nssv2573811,nssv2573781,nssv2573855,nssv2573818,nssv2573800,nssv2573841,nssv2573799,nssv2573806,nssv2573812,nssv2573837,nssv2573791,nssv2573816,nssv2573793,nssv2573825,nssv2573813,nssv2573836,nssv2573842,nssv2573843,nssv2573823,nssv2573815,nssv2573829,nssv2573852,nssv2573820,nssv2573810,nssv2573833 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945706 1 125400 176984 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751877,nssv1751575,nssv1751879,nssv1751531,nssv1751871,nssv1751498,nssv1751895,nssv1751929,nssv1751510,nssv1751520,nssv1751880,nssv1752909,nssv1751875,nssv1751896,nssv1751870,nssv1751482,nssv1751511,nssv1751951,nssv1751868,nssv1752953,nssv1751506,nssv1751502,nssv1751508,nssv1751513,nssv1751503,nssv1751490,nssv1751504,nssv1751480,nssv1751509,nssv1751497,nssv1751885,nssv1751542,nssv1751888,nssv1751476,nssv1751894,nssv1751478,nssv1751890,nssv1751907,nssv1751869,nssv1751486,nssv1751507,nssv1751499,nssv1751884,nssv1751495,nssv1751867,nssv1751893,nssv1751864,nssv1751485,nssv1751878,nssv1751481,nssv1751866,nssv1751491,nssv1751881,nssv1751918,nssv1751873,nssv1751586,nssv1751886,nssv1751902,nssv1751512,nssv1751477,nssv1751897,nssv1751940,nssv1751872,nssv1752942,nssv1751883,nssv1751597,nssv1751882,nssv1751494,nssv1751505,nssv1751900,nssv1751874,nssv1751891,nssv1751892,nssv1751500,nssv1751564,nssv1751863,nssv1751483,nssv1751903,nssv1751487,nssv1751488,nssv1751492,nssv1751496,nssv1751479,nssv1752898,nssv1752964,nssv1752920,nssv1751484,nssv1752931,nssv1751501,nssv1751493,nssv1751514,nssv1751489,nssv1751904,nssv1751901,nssv1752887,nssv1751553,nssv1751889 M 97 10 0 LOC729737 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1139463 1 126200 128500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977050 M 2 1 0 "" KWS2 nsv945504 1 129243 133502 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573883,nssv2573921,nssv2574865,nssv2574853,nssv2574859,nssv2573896,nssv2574861,nssv2573912,nssv2574866,nssv2573911,nssv2573876,nssv2573910,nssv2573873,nssv2574854,nssv2573884,nssv2573915,nssv2573888,nssv2573900,nssv2573880,nssv2574852,nssv2573866,nssv2573889,nssv2573893,nssv2573890,nssv2573878,nssv2574856,nssv2573874,nssv2573922,nssv2574858,nssv2573901,nssv2573882,nssv2573918,nssv2573871,nssv2573906,nssv2573892,nssv2573895,nssv2573877,nssv2573908,nssv2574864,nssv2573899,nssv2573868,nssv2573887,nssv2574860,nssv2573920,nssv2573879,nssv2573925,nssv2573867,nssv2573927,nssv2573865,nssv2573919,nssv2574863,nssv2573897,nssv2573870,nssv2573894,nssv2574862,nssv2573864,nssv2573886,nssv2573909,nssv2573875,nssv2573898,nssv2573885,nssv2573926,nssv2573881,nssv2573902,nssv2573869,nssv2574857,nssv2573872,nssv2573914,nssv2574867,nssv2573923,nssv2573905,nssv2574855,nssv2573904,nssv2573913,nssv2573916,nssv2573903,nssv2573907,nssv2573917,nssv2573891,nssv2573924 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1149021 1 130299 144500 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997807 M 1 1 0 LOC729737 KWB1 nsv1124554 1 135100 148500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976608 M 2 1 0 LOC729737 KWS2 esv991724 1 136181 137326 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586083 M 3 0 1 LOC729737 HuRef nsv3319209 1 136212 136308 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473596 M 14 0 1 LOC729737 NA19240 esv3357639 1 136289 137487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691773 M 185 1 0 LOC729737 NA19240 nsv1075360 1 136799 142500 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762893 M 1 1 0 LOC729737 KWP1 dgv1n166 1 137000 155500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4045105,nsv4048721 M 10847 2 0 LOC729737 esv3672488 1 156280 157332 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494442 M 20 0 0 "" nsv1115325 1 164000 168200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976377 M 2 1 0 "" KWS2 nsv8990 1 176262 177360 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv14779 M 31 0 1 "" NA18572 nsv945708 1 227418 235991 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753665,nssv1753631,nssv1753658,nssv1753629,nssv1752543,nssv1753623,nssv2575116,nssv1753577,nssv1752356,nssv1753632,nssv1752301,nssv1753640,nssv1752455,nssv1753654,nssv2575119,nssv2575120,nssv2575112,nssv1753522,nssv1753661,nssv1752477,nssv1753663,nssv1753626,nssv1753664,nssv1753655,nssv1753662,nssv1753653,nssv1752444,nssv1753635,nssv1751619,nssv1753566,nssv1752565,nssv1753634,nssv1752334,nssv1753675,nssv1752290,nssv1752554,nssv1752378,nssv1753671,nssv1753659,nssv2575111,nssv1752433,nssv1753636,nssv1752389,nssv1753630,nssv1752279,nssv1753669,nssv1752466,nssv1753624,nssv1752268,nssv1753652,nssv1752367,nssv1753621,nssv1752488,nssv1753500,nssv1752400,nssv1753668,nssv1753656,nssv1753673,nssv1752323,nssv1753533,nssv1751630,nssv1752499,nssv1753660,nssv2575115,nssv1752312,nssv1753637,nssv2575117,nssv1753642,nssv1752345,nssv1753646,nssv1751641,nssv1753651,nssv1753657,nssv1753511,nssv1752422,nssv1753628,nssv1752411,nssv1753641,nssv1752532,nssv1753544,nssv1753588,nssv2575113,nssv1752510,nssv1753625,nssv1753647,nssv1752521,nssv1753627,nssv1753633,nssv1751608,nssv1753648,nssv1753670,nssv1753643,nssv2575110,nssv1753674,nssv2575114,nssv1753639,nssv1753650,nssv1753672,nssv1753649,nssv1753644,nssv1753610,nssv1753555,nssv1753645,nssv1753638,nssv1753599,nssv2575118,nssv1753667,nssv1753666 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3324117 1 227467 227467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480381,nssv14489031 M 14 2 0 "" HG00268,HG02106 nsv1115326 1 227500 252100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976378 M 2 1 0 "" KWS2 nsv3374366 1 227541 227541 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14647116,nssv14634270 M 14 2 0 "" HG00514,HX1 nsv3323225 1 227554 227554 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487760 M 14 1 0 "" HG00268 nsv953122 1 227601 267200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001722 M 1 1 0 "" BILGI_BIOE nsv3359025 1 227629 227629 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14638938,nssv14650869,nssv14639662,nssv14635879 M 14 4 0 "" HG02818,HG04217,NA12878,NA19434 nsv3377997 1 227707 227707 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14649146,nssv14649188,nssv14633869,nssv14647112,nssv14644974,nssv14649899,nssv14638609,nssv14640347,nssv14635525 M 14 9 0 "" HG00268,HG00514,HG00733,HG01352,HG02059,HG04217,HX1,NA19240,NA19434 nsv3323425 1 227746 227746 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487445 M 14 1 0 "" HG00268 nsv4033012 1 227750 259300 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781041,nssv15781042,nssv15781045,nssv15781043,nssv15781046,nssv15781044,nssv15781047,nssv15781048 M 10847 0 0 "" dgv4n100 1 228694 888659 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000603,nsv1010877,nsv1005920,nsv998987,nsv1000176,nsv998917 M 29084 8 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,MIR6723,NOC2L,OR4F16,OR4F29,OR4F3,SAMD11 dgv7e59 1 229889 238787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3413313,esv3431827,esv3432331 M 185 3 0 "" NA12878,NA19239,NA19240 nsv1147595 1 230099 264900 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996382 M 1 1 0 "" KWB1 esv3337205 1 231089 235687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692128 M 185 1 0 "" NA12892 nsv1110124 1 231100 267600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959389 M 2 1 0 "" KWS1 nsv1077275 1 233499 237900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3766129 M 1 1 0 "" KWP1 nsv3324123 1 233910 235330 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473582 M 14 0 1 "" NA19434 nsv945509 1 235991 239416 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575131,nssv2574759,nssv2575124,nssv2574787,nssv2575129,nssv2575122,nssv2575128,nssv2574766,nssv2574784,nssv2574762,nssv2574769,nssv2574764,nssv2574789,nssv2574785,nssv2574772,nssv2574793,nssv2575132,nssv2574771,nssv2575130,nssv2574765,nssv2574773,nssv2574770,nssv2575125,nssv2574786,nssv2575123,nssv2574788,nssv2575127,nssv2574768,nssv2574779,nssv2574776,nssv2575126,nssv2574794,nssv2574760,nssv2574767,nssv2574763,nssv2574782,nssv2574775,nssv2574761,nssv2574774,nssv2574783,nssv2574790,nssv2574777,nssv2574791,nssv2574780,nssv2574781,nssv2574792,nssv2574758,nssv2574778 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3323745 1 236052 260151 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14490906,nssv14475744,nssv14474755,nssv14485551,nssv14489837,nssv14481036,nssv14488253,nssv14474057,nssv14480401,nssv14476960,nssv14473593 M 14 11 0 "" HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv945710 1 239416 241557 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574804,nssv2574795,nssv2574802,nssv2574796,nssv2574797,nssv2574799,nssv2574801,nssv2574803,nssv2574805,nssv2574800,nssv2574798 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945709 1 239416 267719 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754577,nssv1753716,nssv1754632,nssv1753796,nssv1753677,nssv1754445,nssv1753688,nssv1754423,nssv1754621,nssv1753721,nssv1753696,nssv1754478,nssv1753694,nssv1753676,nssv1753697,nssv1753752,nssv1753698,nssv1753702,nssv1753690,nssv1754456,nssv1754588,nssv1754522,nssv1753693,nssv1754500,nssv1754665,nssv1754511,nssv1754610,nssv1753774,nssv1753691,nssv1753712,nssv1754643,nssv1753724,nssv1753678,nssv1753713,nssv1753680,nssv1753718,nssv1753705,nssv1753717,nssv1753707,nssv1753723,nssv1753689,nssv1753720,nssv1753685,nssv1754467,nssv1754566,nssv1753706,nssv1753682,nssv1754489,nssv1753695,nssv1753730,nssv1754599,nssv1753722,nssv1753686,nssv1753699,nssv1753683,nssv1753710,nssv1753681,nssv1754533,nssv1754654,nssv1754434,nssv1753684,nssv1753785,nssv1753692,nssv1753763,nssv1753704,nssv1753741,nssv1753700,nssv1753714,nssv1753679,nssv1754544,nssv1753687,nssv1754555,nssv1753709,nssv1753701,nssv1753719,nssv1753711,nssv1753703,nssv1753708,nssv1753715,nssv1753725 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3424705 1 241289 243587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692166 M 185 1 0 "" NA19240 nsv945510 1 241557 243899 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574814,nssv2574824,nssv2574816,nssv2575751,nssv2574813,nssv2575749,nssv2574809,nssv2574840,nssv2574839,nssv2574815,nssv2574836,nssv2574850,nssv2574828,nssv2574811,nssv2574825,nssv2574851,nssv2574835,nssv2574822,nssv2574838,nssv2574829,nssv2574834,nssv2574830,nssv2574818,nssv2574821,nssv2574826,nssv2574808,nssv2574841,nssv2574849,nssv2574844,nssv2574831,nssv2574807,nssv2574846,nssv2574848,nssv2575750,nssv2574827,nssv2574845,nssv2574843,nssv2574819,nssv2574810,nssv2574837,nssv2574842,nssv2574847,nssv2574832,nssv2574812,nssv2574833,nssv2574823,nssv2574820,nssv2574817 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3323526 1 242940 245018 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488543,nssv14487849,nssv14488834 M 14 0 3 "" HG02818,NA19240,NA19434 nsv945513 1 243899 244733 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575762,nssv2575797,nssv2575759,nssv2575798,nssv2575760,nssv2575790,nssv2575755,nssv2575778,nssv2575793,nssv2575791,nssv2575779,nssv2575777,nssv2575763,nssv2575782,nssv2575784,nssv2575799,nssv2575773,nssv2575761,nssv2575796,nssv2575787,nssv2575772,nssv2575767,nssv2575801,nssv2575795,nssv2575774,nssv2575776,nssv2575785,nssv2575775,nssv2575764,nssv2575800,nssv2575781,nssv2575758,nssv2575771,nssv2575792,nssv2575780,nssv2575770,nssv2575789,nssv2575754,nssv2575786,nssv2575788,nssv2575766,nssv2575768,nssv2575783,nssv2575753,nssv2575765,nssv2575756,nssv2575794,nssv2575769,nssv2575757 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4044683 1 243916 244232 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855340 M 10847 0 1 "" nsv945514 1 244733 245785 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575808,nssv2575843,nssv2575811,nssv2575834,nssv2575809,nssv2575845,nssv2575804,nssv2575818,nssv2575838,nssv2575840,nssv2575813,nssv2575825,nssv2575810,nssv2575837,nssv2575827,nssv2575823,nssv2575828,nssv2575821,nssv2575822,nssv2575836,nssv2575826,nssv2575802,nssv2575844,nssv2575847,nssv2575833,nssv2575807,nssv2575815,nssv2575806,nssv2575819,nssv2575846,nssv2575831,nssv2575848,nssv2575839,nssv2575835,nssv2575803,nssv2575817,nssv2575841,nssv2575814,nssv2575812,nssv2575832,nssv2575842,nssv2575849,nssv2575824,nssv2575816,nssv2575829,nssv2575805,nssv2575820,nssv2575830 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3352725 1 244989 247187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692188 M 185 1 0 "" NA19239 esv3390070 1 245689 247287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692193 M 185 1 0 "" NA19240 nsv945516 1 245785 258070 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575860,nssv2575881,nssv2575858,nssv2568298,nssv2575857,nssv2568301,nssv2575853,nssv2575869,nssv2575852,nssv2575868,nssv2575861,nssv2575867,nssv2569140,nssv2575866,nssv2575856,nssv2575855,nssv2568294,nssv2568292,nssv2569139,nssv2575875,nssv2575882,nssv2575876,nssv2575864,nssv2568295,nssv2575851,nssv2575874,nssv2575870,nssv2568296,nssv2575879,nssv2575865,nssv2569138,nssv2575871,nssv2575854,nssv2575878,nssv2568300,nssv2575862,nssv2575880,nssv2568293,nssv2575877,nssv2575883,nssv2569141,nssv2568291,nssv2568297,nssv2575872,nssv2568299,nssv2575873,nssv2575859,nssv2575863 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3416780 1 249489 251587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692195 M 185 1 0 "" NA19239 esv3413391 1 249489 254187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692196 M 185 1 0 "" NA19240 esv3347825 1 250289 251587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692199 M 185 1 0 "" NA19238 esv3381085 1 252089 255387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692200 M 185 1 0 "" NA19239 esv3405973 1 252189 254087 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692201 M 185 1 0 "" NA19238 nsv945517 1 258070 267719 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569152,nssv2569160,nssv2569149,nssv2569189,nssv2569150,nssv2569174,nssv2569145,nssv2569184,nssv2569143,nssv2569168,nssv2569146,nssv2569163,nssv2569171,nssv2569148,nssv2569157,nssv2569165,nssv2569144,nssv2569175,nssv2569170,nssv2569153,nssv2569179,nssv2569154,nssv2569166,nssv2569173,nssv2569176,nssv2569155,nssv2569177,nssv2569167,nssv2569164,nssv2569187,nssv2569180,nssv2569156,nssv2569186,nssv2569178,nssv2569169,nssv2569182,nssv2569172,nssv2569185,nssv2569147,nssv2569161,nssv2569142,nssv2569181,nssv2569158,nssv2569159,nssv2569190,nssv2569188,nssv2569183,nssv2569162,nssv2569151 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945712 1 317720 337700 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755891,nssv1756011,nssv1754698,nssv1756005,nssv1755983,nssv1756026,nssv1755974,nssv1756007,nssv1755869,nssv1756013,nssv1756033,nssv1756004,nssv1755981,nssv1755987,nssv1756035,nssv1756047,nssv1754687,nssv1756002,nssv1755902,nssv1756023,nssv1755980,nssv1755994,nssv1756037,nssv1755997,nssv1756030,nssv1756020,nssv1756034,nssv1755982,nssv1755976,nssv1756025,nssv1755825,nssv1756045,nssv1755847,nssv1756028,nssv1756036,nssv1755985,nssv1755946,nssv1755979,nssv1755913,nssv1756024,nssv1755968,nssv1756021,nssv1755858,nssv1756044,nssv1756029,nssv1755989,nssv1754709,nssv1756039,nssv1755814,nssv1755996,nssv1755924,nssv1756015,nssv1756031,nssv1756042,nssv1755957,nssv1756040,nssv1755792,nssv1755975,nssv1756032,nssv1756018,nssv1756038,nssv1755988,nssv1755803,nssv1755978,nssv1755935,nssv1756006,nssv1755880,nssv1754676,nssv1755836,nssv1756009,nssv1754720,nssv1756001,nssv1755998,nssv1756022,nssv1756027,nssv1756008,nssv1756041,nssv1755995,nssv1756012,nssv1756046,nssv1756010,nssv1755984,nssv1756043,nssv1756017,nssv1756019,nssv1756048,nssv1755999,nssv1756003,nssv1756000,nssv1755986,nssv1755992,nssv1756016,nssv1755990,nssv1755991,nssv1755993,nssv1756014,nssv1755977 M 97 10 0 LOC100132062,LOC100132287,LOC100133331 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv428223 1 317720 471368 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 317770 471337 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 317874 425175 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441517,nssv1441518,nssv1442628,nssv1448183,nssv1447072,nssv1444850,nssv1450405,nssv1441629,nssv1443739,nssv1449294,nssv1445961 M 95 1 10 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 nsv1149141 1 318099 326800 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002651 M 1 1 0 LOC100132062,LOC100132287,LOC100133331 KWB1 nsv471518 1 318139 470924 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 nsv1115327 1 318300 326500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976379 M 2 1 0 LOC100132062,LOC100132287,LOC100133331 KWS2 nsv4049200 1 320000 327650 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856828 M 10847 0 1 LOC100132062,LOC100132287,LOC100133331 dgv1n14 1 321799 466601 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 nsv953187 1 324101 332200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003052 M 1 0 1 LOC100132062,LOC100132287,LOC100133331 BILGI_BIOE nsv945519 1 331680 334089 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569274,nssv2569298,nssv2569277,nssv2569242,nssv2569288,nssv2569229,nssv2569291,nssv2569295,nssv2569262,nssv2569244,nssv2569276,nssv2569252,nssv2569259,nssv2569294,nssv2569253,nssv2569300,nssv2569271,nssv2569231,nssv2569283,nssv2569237,nssv2569270,nssv2569245,nssv2569292,nssv2569235,nssv2569273,nssv2569236,nssv2569266,nssv2569241,nssv2569249,nssv2569234,nssv2569275,nssv2569251,nssv2569246,nssv2569238,nssv2569280,nssv2569230,nssv2569263,nssv2569247,nssv2569223,nssv2569301,nssv2569264,nssv2569227,nssv2569260,nssv2569239,nssv2569250,nssv2569240,nssv2569272,nssv2569233,nssv2569285,nssv2569293,nssv2569267,nssv2569224,nssv2569254,nssv2569302,nssv2569279,nssv2569296,nssv2569258,nssv2569232,nssv2569284,nssv2569225,nssv2569269,nssv2569228,nssv2569265,nssv2569226,nssv2569248,nssv2569243,nssv2569268,nssv2569299,nssv2569261,nssv2569297,nssv2569256,nssv2569282,nssv2569278,nssv2569257,nssv2569290,nssv2569281,nssv2569286,nssv2569289,nssv2569255,nssv2569287 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945520 1 334089 337700 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569380,nssv2569356,nssv2569320,nssv2569359,nssv2569306,nssv2569361,nssv2569333,nssv2569372,nssv2569383,nssv2569346,nssv2569316,nssv2569373,nssv2569317,nssv2569355,nssv2569323,nssv2569366,nssv2569313,nssv2569344,nssv2569379,nssv2569370,nssv2569324,nssv2569368,nssv2569321,nssv2569327,nssv2569376,nssv2569352,nssv2569381,nssv2569349,nssv2569310,nssv2569304,nssv2569374,nssv2569335,nssv2569322,nssv2569348,nssv2569326,nssv2569362,nssv2569375,nssv2569345,nssv2569308,nssv2569358,nssv2569332,nssv2569371,nssv2569319,nssv2569343,nssv2569314,nssv2569340,nssv2569311,nssv2569330,nssv2569307,nssv2569353,nssv2569305,nssv2569339,nssv2569325,nssv2569347,nssv2569318,nssv2569331,nssv2569377,nssv2569357,nssv2569378,nssv2569365,nssv2569328,nssv2569334,nssv2569312,nssv2569360,nssv2569315,nssv2569337,nssv2569309,nssv2569341,nssv2569382,nssv2569369,nssv2569351,nssv2569338,nssv2569367,nssv2569303,nssv2569364,nssv2569350,nssv2569329,nssv2569354,nssv2569342,nssv2569336,nssv2569363 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945713 1 337700 352306 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756053,nssv1756072,nssv1756077,nssv1756418,nssv1756071,nssv1756087,nssv1756067,nssv1756425,nssv1756060,nssv1756049,nssv1756433,nssv1756406,nssv1756431,nssv1756409,nssv1756062,nssv1756424,nssv1756061,nssv1756415,nssv1756427,nssv1756412,nssv1756065,nssv1756420,nssv1756050,nssv1756083,nssv1756063,nssv1756088,nssv1756052,nssv1756075,nssv1756434,nssv1756410,nssv1756073,nssv1756090,nssv1756432,nssv1756079,nssv1756070,nssv1756413,nssv1756080,nssv1756426,nssv1756058,nssv1756084,nssv1756066,nssv1756091,nssv1756055,nssv1756423,nssv1756068,nssv1756074,nssv1756429,nssv1756401,nssv1756056,nssv1756416,nssv1756064,nssv1756402,nssv1756051,nssv1756403,nssv1756069,nssv1756404,nssv1756059,nssv1756422,nssv1756436,nssv1756082,nssv1756054,nssv1756417,nssv1756430,nssv1756421,nssv1756435,nssv1756076,nssv1756078,nssv1756414,nssv1756057,nssv1756419,nssv1756428,nssv1756408,nssv1756407,nssv1756089,nssv1756411,nssv1756086,nssv1756081,nssv1756405,nssv1756092,nssv1756085 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945521 1 340358 342662 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569386,nssv2569402,nssv2569393,nssv2569404,nssv2569391,nssv2569409,nssv2569390,nssv2569414,nssv2569395,nssv2569387,nssv2569399,nssv2569407,nssv2569421,nssv2569389,nssv2569413,nssv2569415,nssv2569422,nssv2569425,nssv2569410,nssv2569428,nssv2569388,nssv2569426,nssv2569420,nssv2569400,nssv2569392,nssv2569416,nssv2569432,nssv2569396,nssv2569394,nssv2569406,nssv2569427,nssv2569431,nssv2569408,nssv2569403,nssv2569397,nssv2569423,nssv2569429,nssv2569384,nssv2569418,nssv2569417,nssv2569424,nssv2569430,nssv2569398,nssv2569385,nssv2569411,nssv2569405,nssv2569419,nssv2569401,nssv2569412 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945524 1 342662 343162 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570553,nssv2569440,nssv2570529,nssv2569435,nssv2570554,nssv2569439,nssv2570530,nssv2570567,nssv2570523,nssv2570522,nssv2569436,nssv2570561,nssv2570558,nssv2570533,nssv2570557,nssv2570563,nssv2570550,nssv2570526,nssv2570525,nssv2570527,nssv2570560,nssv2569443,nssv2570552,nssv2570551,nssv2569441,nssv2570555,nssv2570559,nssv2570534,nssv2570562,nssv2569434,nssv2570532,nssv2569438,nssv2570536,nssv2570566,nssv2570535,nssv2570564,nssv2569445,nssv2569442,nssv2570531,nssv2570565,nssv2569433,nssv2570537,nssv2570524,nssv2570528,nssv2569437,nssv2569444,nssv2570538,nssv2570556 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945525 1 343162 352306 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570547,nssv2571469,nssv2570546,nssv2571473,nssv2570542,nssv2571492,nssv2571490,nssv2571467,nssv2571472,nssv2570543,nssv2571500,nssv2570544,nssv2571481,nssv2571464,nssv2571489,nssv2571491,nssv2571478,nssv2571501,nssv2571499,nssv2571470,nssv2570549,nssv2571494,nssv2571486,nssv2571485,nssv2571498,nssv2571479,nssv2571480,nssv2571497,nssv2571474,nssv2570548,nssv2570540,nssv2571495,nssv2571465,nssv2571496,nssv2571471,nssv2571487,nssv2571477,nssv2570545,nssv2571484,nssv2571476,nssv2570541,nssv2571488,nssv2571468,nssv2571475,nssv2571493,nssv2571466,nssv2571483,nssv2571482 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1150308 1 343299 364400 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003607 M 1 1 0 "" KWB1 nsv10050 1 348092 641599 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv24620,nssv18118,nssv18107,nssv26902,nssv18094,nssv18121,nssv24618,nssv18115,nssv14769,nssv21443,nssv18112,nssv18105,nssv14767,nssv21441,nssv21450,nssv21426,nssv21435,nssv18102,nssv21439,nssv18101,nssv18116,nssv26886,nssv18120,nssv24614,nssv18111,nssv18110,nssv24604,nssv18099,nssv28054,nssv21433,nssv21446,nssv18119,nssv18095,nssv18106,nssv24595,nssv26896,nssv18092,nssv18100,nssv18098,nssv18104,nssv18114,nssv24606,nssv21447,nssv21449,nssv24612,nssv21424,nssv24597,nssv14778,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 nsv1142733 1 352100 355600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994232 M 2 0 1 "" KWS1 nsv1074919 1 352299 363200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765719 M 1 0 1 "" KWP1 nsv945265 1 352306 371739 OTHER complex Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1677687,nssv1756442,nssv1679661,nssv1756446,nssv1677709,nssv1756483,nssv1677642,nssv1756473,nssv1677753,nssv1756477,nssv1679650,nssv1756482,nssv1686360,nssv1756467,nssv1683216,nssv1756454,nssv1679672,nssv1756453,nssv1679639,nssv1756449,nssv1679628,nssv1756463,nssv1679627,nssv1682067,nssv1677742,nssv1680921,nssv1756443,nssv1756451,nssv1677731,nssv1679594,nssv1679705,nssv1756478,nssv1682237,nssv1679775,nssv1677665,nssv1756476,nssv1677720,nssv1756484,nssv1677641,nssv1756468,nssv1677698,nssv1756440,nssv1684698,nssv1756481,nssv1679716,nssv1756455,nssv1684709,nssv1756447,nssv1677676,nssv1756470,nssv1756439,nssv1756458,nssv1677754,nssv1677927,nssv1677643,nssv1756472,nssv1756444,nssv1756437,nssv1677765,nssv1679761,nssv1679694,nssv1679073,nssv1679738,nssv1756457,nssv1679616,nssv1682178,nssv1679683,nssv1756445,nssv1677654,nssv1677816,nssv1679727,nssv1756469,nssv1756474,nssv1756461,nssv1756480,nssv1756464,nssv1756471,nssv1756448,nssv1756450,nssv1679739,nssv1681956,nssv1756452,nssv1756459,nssv1756460,nssv1756475,nssv1756462,nssv1679492,nssv1678962,nssv1756456,nssv1756441,nssv1756479,nssv1680810,nssv1679605,nssv1756465,nssv1756438,nssv1679750,nssv1756466 M 97 10 0 OR4F16,OR4F29,OR4F3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4051827 1 354000 359000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845703 M 10847 0 1 "" dgv5n100 1 356431 1049804 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 nsv1142734 1 361500 363300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994233 M 2 0 1 "" KWS1 nsv4050917 1 364000 401750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847505 M 10847 0 1 OR4F16,OR4F29,OR4F3 nsv1126162 1 366400 384400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984389 M 2 0 1 OR4F16,OR4F29,OR4F3 KWS1 nsv514924 1 367049 368179 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2859521,nssv2861430,nssv2859918,nssv2862220,nssv2864797,nssv2862379,nssv2862685,nssv2867661,nssv2866662,nssv2865079,nssv2860015,nssv2862117,nssv2863429,nssv2859368,nssv2860775,nssv2860896,nssv2863469,nssv2864877,nssv2866517,nssv2862348,nssv2863551,nssv2867206,nssv2864835,nssv2862593,nssv2864967,nssv2862420,nssv2860354,nssv2862417,nssv2866175,nssv2867250,nssv2861053,nssv2860882,nssv2865606,nssv2864782,nssv2860603,nssv2859248,nssv2859402,nssv2862673,nssv2861234,nssv2858809,nssv2863225,nssv2866779,nssv2866044,nssv2864035,nssv2861656,nssv2862194,nssv2862784,nssv2866347,nssv2862828,nssv2863452,nssv2866540,nssv2859557,nssv2861519,nssv2865175,nssv2864276,nssv2859187,nssv2866340,nssv2865195,nssv2865221,nssv2858625,nssv2864960,nssv2860934,nssv2866864,nssv2861928,nssv2860830,nssv2861881,nssv2864160,nssv2866126,nssv2867570,nssv2865996,nssv2866973,nssv2860512,nssv2859293,nssv2861414,nssv2868325,nssv2866054,nssv2864149,nssv2863412,nssv2863347,nssv2859989,nssv2860284,nssv2867319,nssv2862541,nssv2858909,nssv2862208,nssv2866251,nssv2864719,nssv2858632,nssv2862545,nssv2859792,nssv2863532,nssv2866686,nssv2862512,nssv2866632,nssv2861953,nssv2868253,nssv2862258,nssv2863997,nssv2867595,nssv2861957,nssv2860769,nssv2864925,nssv2866752,nssv2862565,nssv2866637,nssv2866835,nssv2867200,nssv2865633,nssv2864941,nssv2863561,nssv2865338,nssv2858843,nssv2860276,nssv2866581,nssv2863369,nssv2858797,nssv2861599,nssv2861967,nssv2859894,nssv2867889,nssv2861639,nssv2868158,nssv2862500,nssv2862975,nssv2860753,nssv2858659,nssv2861345,nssv2862714,nssv2866598,nssv2865663,nssv2864758,nssv2867004,nssv2861837,nssv2862363,nssv2868182,nssv2858904,nssv2861926,nssv2867752,nssv2862554,nssv2862897,nssv2858631,nssv2866478,nssv2867671,nssv2866982,nssv2864103,nssv2859039,nssv2866883,nssv2861737,nssv2864997,nssv2862740,nssv2863885,nssv2862493,nssv2865461,nssv2859497,nssv2862207,nssv2862494,nssv2858724,nssv2862783,nssv2863949,nssv2862285,nssv2861150,nssv2859933,nssv2865836,nssv2859623,nssv2860916,nssv2863163,nssv2866878,nssv2866547,nssv2859254,nssv2864216,nssv2865436,nssv2861593,nssv2863820,nssv2867930,nssv2858824,nssv2863508,nssv2860049,nssv2866012,nssv2861858,nssv2866554,nssv2864598,nssv2863290,nssv2867543,nssv2859498,nssv2867383,nssv2863813,nssv2866447,nssv2864759,nssv2859078,nssv2866532,nssv2862367,nssv2867757,nssv2864063,nssv2863100,nssv2863049,nssv2866132,nssv2862441,nssv2860480,nssv2864546,nssv2861874,nssv2865057,nssv2864857,nssv2866764,nssv2867737,nssv2865435,nssv2866048,nssv2862815,nssv2863835,nssv2863812,nssv2865846,nssv2860240,nssv2859345,nssv2859398,nssv2858723,nssv2860657,nssv2859879,nssv2858963,nssv2863983,nssv2866984,nssv2860621,nssv2858945,nssv2859837,nssv2867598,nssv2859697,nssv2864577,nssv2863806,nssv2860674,nssv2858950,nssv2864408,nssv2864217,nssv2858933,nssv2865207,nssv2864567,nssv2865946,nssv2865659,nssv2860416,nssv2866422,nssv2866971,nssv2862754,nssv2866121,nssv2868254,nssv2867890,nssv2864695,nssv2859890,nssv2864578,nssv2862284,nssv2859280,nssv2860534,nssv2867689,nssv2861241,nssv2867382,nssv2865550,nssv2860382,nssv2862927,nssv2862123,nssv2863335,nssv2868309,nssv2866061,nssv2860438,nssv2862921,nssv2864615,nssv2866661,nssv2864353,nssv2863901,nssv2862400,nssv2861542,nssv2862168,nssv2865821,nssv2862808,nssv2866565,nssv2864736,nssv2858495,nssv2863346,nssv2864195,nssv2861853,nssv2868231,nssv2859691,nssv2866555,nssv2867303,nssv2862765,nssv2868361,nssv2867293,nssv2867834,nssv2860428,nssv2859457,nssv2859034,nssv2862029,nssv2864671,nssv2867947,nssv2865956,nssv2861413,nssv2866209,nssv2866687,nssv2861784,nssv2866853,nssv2863516,nssv2862600,nssv2863759,nssv2867490,nssv2866831,nssv2864045,nssv2860871,nssv2864259,nssv2866668,nssv2864777,nssv2867103,nssv2859361,nssv2860372,nssv2864823,nssv2862988,nssv2861518,nssv2860353,nssv2863821,nssv2866683,nssv2867218,nssv2862460,nssv2859791,nssv2861826,nssv2862009,nssv2867933,nssv2861002,nssv2861167,nssv2861045,nssv2861299,nssv2862976,nssv2864233,nssv2860554,nssv2864990,nssv2859860,nssv2866972,nssv2859091,nssv2863170,nssv2862147,nssv2864388,nssv2865277,nssv2865583,nssv2868474,nssv2867249,nssv2866840,nssv2865554,nssv2867072,nssv2865173,nssv2858699,nssv2866556,nssv2864316,nssv2863224,nssv2866409,nssv2865553,nssv2865437,nssv2866346,nssv2864604,nssv2863731,nssv2859077,nssv2863615,nssv2860469,nssv2860592,nssv2862326,nssv2867973,nssv2864173,nssv2867682,nssv2862141,nssv2864044,nssv2862030,nssv2859275,nssv2860388,nssv2868243,nssv2862091,nssv2858819,nssv2864440,nssv2866856,nssv2864909,nssv2866751,nssv2865396,nssv2859221,nssv2864064,nssv2867774,nssv2866548,nssv2866203,nssv2866264,nssv2863203,nssv2864018,nssv2866265,nssv2858519,nssv2865414,nssv2868031,nssv2860771,nssv2863496,nssv2859526,nssv2861022,nssv2861157,nssv2862841,nssv2860982,nssv2864976,nssv2868103,nssv2861562,nssv2859326,nssv2865093,nssv2865808,nssv2861018,nssv2868339,nssv2864389,nssv2862660,nssv2861438,nssv2867749,nssv2862314,nssv2860808,nssv2861583,nssv2860915,nssv2866575,nssv2866104,nssv2866708,nssv2866195,nssv2867047,nssv2866798,nssv2862469,nssv2866094,nssv2862596,nssv2858554,nssv2862985,nssv2868492,nssv2861803,nssv2866867,nssv2866240,nssv2859548,nssv2867390,nssv2859917,nssv2864268,nssv2867457,nssv2863643,nssv2865136,nssv2864280,nssv2864179,nssv2862722,nssv2862180,nssv2866797,nssv2860347,nssv2866977,nssv2859401,nssv2866039,nssv2858648,nssv2862035,nssv2860415,nssv2864374,nssv2864057,nssv2864528,nssv2863873,nssv2862759,nssv2862953,nssv2866645,nssv2863590,nssv2864368,nssv2864957,nssv2864260,nssv2866652,nssv2861377,nssv2867027,nssv2865056,nssv2864400,nssv2862059,nssv2867451,nssv2862008,nssv2864885,nssv2864966,nssv2862431,nssv2862024,nssv2859106,nssv2863502,nssv2868006,nssv2860091,nssv2867487,nssv2863998,nssv2861944,nssv2860628,nssv2866970,nssv2864032,nssv2864914,nssv2863943,nssv2865032,nssv2864905,nssv2861893,nssv2860550,nssv2867020,nssv2865200,nssv2860829,nssv2865025,nssv2859993,nssv2859168,nssv2863474 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 371739 435382 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756502,nssv1756523,nssv1756513,nssv1756546,nssv1756514,nssv1756552,nssv1756491,nssv1756521,nssv1755723,nssv1756538,nssv1756507,nssv1756532,nssv1756488,nssv1756508,nssv1756494,nssv1756517,nssv1756503,nssv1756535,nssv1756500,nssv1756543,nssv1756497,nssv1756511,nssv1756486,nssv1756522,nssv1755727,nssv1756520,nssv1756493,nssv1756536,nssv1755729,nssv1756537,nssv1756498,nssv1756539,nssv1755724,nssv1756485,nssv1756499,nssv1756524,nssv1756489,nssv1756547,nssv1756506,nssv1756533,nssv1755726,nssv1756553,nssv1755722,nssv1756548,nssv1756504,nssv1756519,nssv1756509,nssv1756549,nssv1755730,nssv1756551,nssv1755725,nssv1756510,nssv1756492,nssv1756550,nssv1756487,nssv1756525,nssv1755731,nssv1756544,nssv1756496,nssv1756515,nssv1756501,nssv1756512,nssv1756490,nssv1756542,nssv1756495,nssv1756534,nssv1756505,nssv1756531,nssv1755728,nssv1756526,nssv1756516,nssv1756527,nssv1756541,nssv1756540,nssv1756545,nssv1756530,nssv1755721,nssv1756529,nssv1756518,nssv1756528 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv544874 1 379005 454648 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707624 M 17421 0 1 "" nsv4501996 1 383000 388000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781124,nssv15781119,nssv15781118,nssv15781123,nssv15781120,nssv15781114,nssv15781116,nssv15781117,nssv15781121,nssv15781125,nssv15781122,nssv15781115 M 10847 0 0 "" nsv1074921 1 385199 385900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765726 M 1 0 1 "" KWP1 esv3438382 1 385789 386687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692318 M 185 1 0 "" NA19239 nsv945527 1 397881 409465 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571511,nssv2571528,nssv2571510,nssv2571517,nssv2571506,nssv2571542,nssv2571513,nssv2571523,nssv2571548,nssv2571534,nssv2571547,nssv2571551,nssv2571550,nssv2571544,nssv2571522,nssv2571531,nssv2571533,nssv2571516,nssv2571546,nssv2571518,nssv2571509,nssv2571539,nssv2571545,nssv2571532,nssv2571540,nssv2571520,nssv2571530,nssv2571525,nssv2571504,nssv2571524,nssv2571536,nssv2571541,nssv2571507,nssv2571537,nssv2571543,nssv2571519,nssv2571538,nssv2571515,nssv2571529,nssv2571508,nssv2571526,nssv2571549,nssv2571535,nssv2571512,nssv2571521,nssv2571505,nssv2571527,nssv2571514 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1143422 1 397900 432000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980619 M 2 0 1 "" KWS1 nsv945528 1 409465 413535 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571555,nssv2571587,nssv2571560,nssv2571552,nssv2571559,nssv2571569,nssv2571562,nssv2571553,nssv2571591,nssv2571564,nssv2571576,nssv2571598,nssv2571597,nssv2571586,nssv2571579,nssv2571578,nssv2571594,nssv2571599,nssv2571566,nssv2571558,nssv2571580,nssv2571583,nssv2571556,nssv2571571,nssv2571572,nssv2571573,nssv2571585,nssv2571563,nssv2571574,nssv2571593,nssv2571592,nssv2571595,nssv2571561,nssv2571575,nssv2571565,nssv2571589,nssv2571590,nssv2571588,nssv2571584,nssv2571600,nssv2571557,nssv2571582,nssv2571567,nssv2571581,nssv2571570,nssv2571568,nssv2571596,nssv2571554,nssv2571577 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3359178 1 409989 413887 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692323 M 185 1 0 "" NA12878 nsv945529 1 413535 415914 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571604,nssv2571618,nssv2571611,nssv2571622,nssv2571609,nssv2571607,nssv2571608,nssv2571639,nssv2571636,nssv2571628,nssv2571633,nssv2571648,nssv2571632,nssv2571647,nssv2571610,nssv2571634,nssv2571646,nssv2571640,nssv2571635,nssv2571613,nssv2571615,nssv2571619,nssv2571637,nssv2571601,nssv2571644,nssv2571616,nssv2571614,nssv2571617,nssv2571605,nssv2571626,nssv2571625,nssv2571612,nssv2571621,nssv2571629,nssv2571645,nssv2571643,nssv2571627,nssv2571638,nssv2571641,nssv2571620,nssv2571623,nssv2571631,nssv2571606,nssv2571630,nssv2571642,nssv2571602,nssv2571624,nssv2571603,nssv2571649 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945530 1 415914 420388 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 420388 422832 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571671,nssv2571663,nssv2571668,nssv2571665,nssv2571664,nssv2571667,nssv2571669,nssv2571670,nssv2571662,nssv2571672,nssv2571666 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945533 1 422832 424285 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571683,nssv2571682,nssv2571676,nssv2571674,nssv2571680,nssv2571675,nssv2571681,nssv2571677,nssv2571679,nssv2571673,nssv2571684,nssv2571678 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945535 1 424285 426050 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571694,nssv2571689,nssv2571691,nssv2571685,nssv2571692,nssv2571690,nssv2571687,nssv2571688,nssv2571696,nssv2571693,nssv2571695,nssv2571686 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3444251 1 425089 427687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692326 M 185 1 0 "" NA12878 esv3416681 1 425089 429487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692327 M 185 1 0 "" NA19238 nsv945536 1 426050 427054 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571706,nssv2571701,nssv2571703,nssv2571698,nssv2571704,nssv2571708,nssv2571699,nssv2571700,nssv2571697,nssv2571705,nssv2571707,nssv2571702 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945537 1 427054 435382 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571718,nssv2571710,nssv2571711,nssv2571720,nssv2571715,nssv2571714,nssv2571716,nssv2571712,nssv2571713,nssv2571709,nssv2571719,nssv2571717 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3347881 1 430989 432487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692334 M 185 1 0 "" NA12878 nsv1126163 1 432200 449400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984390 M 2 0 1 "" KWS1 nsv945539 1 435382 438688 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571730,nssv2571725,nssv2571727,nssv2571721,nssv2571723,nssv2571726,nssv2571728,nssv2571729,nssv2571724,nssv2571731,nssv2571722 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv994970 1 436729 461014 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586250 M 3 0 1 "" HuRef nsv945716 1 438688 459944 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755734,nssv1755742,nssv1755738,nssv1755733,nssv1755741,nssv1755735,nssv1755739,nssv1755736,nssv1755732,nssv1755737,nssv1755740 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3391927 1 450889 452387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692342 M 185 1 0 "" NA19238 esv3426596 1 450889 453587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692343 M 185 1 0 "" NA19240 esv3334942 1 450989 457087 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692344 M 185 1 0 "" NA19239 esv3410685 1 456289 459687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692345 M 185 1 0 "" NA12878 nsv1143423 1 459500 460800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980620 M 2 0 1 "" KWS1 nsv945717 1 459944 463640 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755749,nssv1748171,nssv1755745,nssv1755779,nssv1755750,nssv1755747,nssv1755752,nssv1755769,nssv1755753,nssv1755768,nssv1755772,nssv1748175,nssv1755755,nssv1755770,nssv1755760,nssv1755778,nssv1755782,nssv1755744,nssv1755783,nssv1755775,nssv1748170,nssv1755759,nssv1755761,nssv1748172,nssv1748173,nssv1755746,nssv1755771,nssv1755777,nssv1755763,nssv1755766,nssv1755743,nssv1755774,nssv1755756,nssv1755780,nssv1755757,nssv1755764,nssv1755781,nssv1755773,nssv1755776,nssv1748174,nssv1755762,nssv1755748,nssv1755767,nssv1755751,nssv1755754,nssv1755784,nssv1755758,nssv1755765 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv8e59 1 460689 471287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3445983,esv3381255 M 185 2 0 "" NA12878,NA12892 esv3419296 1 460789 461787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692347 M 185 1 0 "" NA19238 esv1004360 1 461061 471368 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586709 M 3 1 0 "" HuRef nsv953222 1 463001 471100 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003132 M 1 1 0 "" BILGI_BIOE nsv945718 1 463640 471368 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1748178,nssv2571743,nssv1748253,nssv1748216,nssv2571735,nssv1748236,nssv1748191,nssv1748241,nssv2571742,nssv2571734,nssv1748189,nssv1748222,nssv1748254,nssv1749498,nssv1749488,nssv1748235,nssv1748205,nssv1748248,nssv1748255,nssv1748237,nssv1748190,nssv1748249,nssv2571739,nssv1748217,nssv1748195,nssv1748203,nssv1748181,nssv1748239,nssv1748192,nssv1748219,nssv1749489,nssv1749501,nssv1748207,nssv1748238,nssv1749494,nssv1748218,nssv1748182,nssv1748214,nssv2571740,nssv1748231,nssv1748184,nssv2571733,nssv1748188,nssv1748213,nssv1748177,nssv1748208,nssv1748194,nssv1748245,nssv1749491,nssv1748221,nssv1748193,nssv1748229,nssv1748187,nssv1748212,nssv1748197,nssv1748251,nssv1748183,nssv1749496,nssv1748200,nssv1748250,nssv1749492,nssv1748240,nssv1749493,nssv1748230,nssv1748185,nssv1748223,nssv1748179,nssv1749502,nssv1748196,nssv1749500,nssv1748204,nssv1749499,nssv1748198,nssv1749504,nssv1749490,nssv2571738,nssv1748180,nssv1748228,nssv1748186,nssv1748215,nssv2571736,nssv1748227,nssv2571737,nssv1749497,nssv1748176,nssv1749495,nssv1748224,nssv1748232,nssv1748220,nssv1748242,nssv1748234,nssv1748233,nssv1748209,nssv1749503,nssv2571741,nssv1748199,nssv1748243,nssv1748247,nssv1748201,nssv1748246,nssv1748225,nssv1748211,nssv1748206,nssv1748244,nssv1748252,nssv1748210,nssv1748226,nssv1748202 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1076309 1 467399 471300 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762533 M 1 1 0 "" KWP1 nsv1152873 1 469099 471300 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997907 M 1 1 0 "" KWB1 dgv2n82 1 521369 523750 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 521413 724071 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 521458 547879 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586722 M 3 0 1 "" HuRef nsv4039615 1 521800 546850 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781229,nssv15781232,nssv15781230,nssv15781233,nssv15781235,nssv15781236,nssv15781231,nssv15781234 M 10847 0 0 "" nsv471522 1 522139 756783 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 523750 529811 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571766,nssv2571767,nssv2571763,nssv2571761,nssv2571764,nssv2571762,nssv2571759,nssv2571758,nssv2571757,nssv2571765,nssv2571760,nssv2571756 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945720 1 523750 546384 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749562,nssv1749553,nssv1749555,nssv1749563,nssv1749560,nssv1749554,nssv1749559,nssv1749561,nssv1749558,nssv1749557,nssv1749556 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3444717 1 529489 534787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692356 M 185 1 0 "" NA19238 nsv4290545 1 530886 530887 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029986 M 10847 1 0 "" nsv4517655 1 531100 613750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850344 M 10847 0 1 MIR6723 esv3324015 1 531489 532387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692357 M 185 1 0 "" NA12878 nsv3324027 1 532011 532112 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484896 M 14 0 1 "" HG02106 dgv9e59 1 533089 534187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3442814,esv3367382 M 185 2 0 "" NA19239,NA19240 nsv3324028 1 533163 533163 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486325 M 14 1 0 "" HG02106 nsv3324464 1 533274 533274 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14480330 M 14 1 0 "" HG02106 nsv3325428 1 533321 533321 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482758 M 14 1 0 "" HG02106 nsv3325429 1 533447 533447 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484190,nssv14477001 M 14 2 0 "" HG00268,HG02106 nsv3324465 1 533619 533619 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476239 M 14 1 0 "" HG00268 nsv3325430 1 533673 533673 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478001,nssv14472449 M 14 2 0 "" HG00268,HG02106 nsv3325431 1 533951 533951 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479540,nssv14484439,nssv14486012 M 14 3 0 "" HG00268,HG02059,HG02106 nsv830758 1 539255 656750 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441851,nssv1442073,nssv1442295,nssv1441740,nssv1442517,nssv1442406,nssv1442184,nssv1441962 M 95 0 8 MIR6723,OR4F16,OR4F29,OR4F3 nsv3324479 1 543981 560380 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14474780 M 14 1 0 "" NA12878 esv3350472 1 544489 546187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692365 M 185 1 0 "" NA12878 nsv544875 1 544966 569604 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707625 M 17421 1 0 MIR6723 nsv3325451 1 545488 545488 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472181 M 14 1 0 "" HG00268 nsv3324043 1 545630 545630 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483750 M 14 1 0 "" HG00268 nsv3325164 1 545789 545789 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482607 M 14 1 0 "" HG02106 nsv3324480 1 545925 545925 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475236 M 14 1 0 "" HG02106 nsv3325452 1 545970 545970 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476562,nssv14478390,nssv14476019,nssv14488491,nssv14487283,nssv14486227 M 14 6 0 "" CHM1,HG00268,HG00733,HG02059,HG02106,NA12878 nsv1118085 1 546200 564500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980303 M 2 0 1 "" KWS1 nsv945723 1 546384 549347 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 546384 563896 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749566,nssv1749611,nssv1749585,nssv1749619,nssv1749574,nssv1749589,nssv1749575,nssv1749598,nssv1749579,nssv1749601,nssv1749637,nssv1749564,nssv1749588,nssv1749602,nssv1749642,nssv1749624,nssv1749568,nssv1749629,nssv1749595,nssv1749604,nssv1749569,nssv1749615,nssv1749583,nssv1749621,nssv1749584,nssv1749587,nssv1749634,nssv1749631,nssv1749638,nssv1749630,nssv1749565,nssv1749632,nssv1749580,nssv1749620,nssv1749592,nssv1749622,nssv1749643,nssv1749605,nssv1749577,nssv1749627,nssv1749578,nssv1749610,nssv1749639,nssv1749614,nssv1749640,nssv1749594,nssv1749635,nssv1749628,nssv1749572,nssv1749590,nssv1749570,nssv1749618,nssv1749636,nssv1749625,nssv1749571,nssv1749600,nssv1749593,nssv1749623,nssv1749573,nssv1749626,nssv1749582,nssv1749596,nssv1749581,nssv1749603,nssv1749576,nssv1749616,nssv1749641,nssv1749608,nssv1749586,nssv1749607,nssv1749567,nssv1749599,nssv1749612,nssv1749609,nssv1749606,nssv1749591,nssv1749597,nssv1749633,nssv1749613,nssv1749617 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv10e59 1 546689 547987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3377615,esv3393054 M 185 2 0 "" NA12878,NA12891 nsv3325453 1 546939 547354 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488228 M 14 0 1 "" HG02059 nsv3324044 1 547276 547276 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478700 M 14 1 0 "" HG02106 nsv3325454 1 547532 547633 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479452 M 14 0 1 "" HG02059 nsv4047701 1 547599 547802 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965142 M 10847 1 0 "" nsv945542 1 549347 557532 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573022,nssv2573021,nssv2573019,nssv2573014,nssv2573020,nssv2573023,nssv2573015,nssv2573013,nssv2573016,nssv2573018,nssv2573012,nssv2573017 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4052009 1 553300 564400 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781319,nssv15781320,nssv15781322,nssv15781321,nssv15781324,nssv15781325,nssv15781323 M 10847 0 0 "" dgv11e59 1 554089 558787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3399854,esv3433794 M 185 2 0 "" NA12878,NA19238 nsv945543 1 557532 563896 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573032,nssv2573035,nssv2573031,nssv2573034,nssv2573027,nssv2573033,nssv2573029,nssv2573026,nssv2573028,nssv2573030,nssv2573025,nssv2573024 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4509904 1 560250 570600 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781425,nssv15783357,nssv15781432,nssv15781438,nssv15781429,nssv15781428,nssv15781437,nssv15781435,nssv15783358,nssv15783360,nssv15781431,nssv15781436,nssv15781433,nssv15781424,nssv15781426,nssv15781434,nssv15781430,nssv15781427,nssv15783355,nssv15783356,nssv15783359 M 10847 0 0 MIR6723 nsv945724 1 563896 570056 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749723,nssv1749684,nssv1749656,nssv1749674,nssv1749654,nssv1749735,nssv1749672,nssv1749715,nssv1749728,nssv1749689,nssv1749724,nssv1749719,nssv1749651,nssv1749692,nssv1749721,nssv1749690,nssv1749668,nssv1749697,nssv1749647,nssv1749708,nssv1749655,nssv1749669,nssv1749725,nssv1749670,nssv1749646,nssv1749677,nssv1749650,nssv1749714,nssv1749648,nssv1749686,nssv1749659,nssv1749720,nssv1749649,nssv1749693,nssv1749664,nssv1749739,nssv1749666,nssv1749705,nssv1749663,nssv1749681,nssv1749675,nssv1749644,nssv1749660,nssv1749716,nssv1749645,nssv1749678,nssv1749658,nssv1749733,nssv1749665,nssv1749682,nssv1749729,nssv1749691,nssv1749730,nssv1749702,nssv1749727,nssv1749713,nssv1749652,nssv1749709,nssv1749661,nssv1749698,nssv1749653,nssv1749701,nssv1749662,nssv1749712,nssv1749726,nssv1749699,nssv1749722,nssv1749738,nssv1749657,nssv1749688,nssv1749673,nssv1749734,nssv1749707,nssv1749717,nssv1749676,nssv1749710,nssv1749695,nssv1749694,nssv1749700,nssv1749685,nssv1749667,nssv1749680,nssv1749732,nssv1749740,nssv1749706,nssv1749737,nssv1749704,nssv1749683,nssv1749718,nssv1749731,nssv1749679,nssv1749703,nssv1749696,nssv1749671,nssv1749687,nssv1749736,nssv1749711 M 97 10 0 MIR6723 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv949752 1 564301 570300 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997093 M 1 1 0 MIR6723 BILGI_BIOE esv3417080 1 564389 570387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692377 M 185 1 0 MIR6723 NA19239 dgv1e24 1 564434 649747 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH esv2750552,esv2750735,esv2750643,esv2750751,esv2750642,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 564477 706368 CNV gain Cooper_et_al_2008 18776910 SNP array nsv433347,nsv433346 M 9 2 0 LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 NA12156,NA19240 nsv1077276 1 564499 571000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762135 M 1 1 0 MIR6723 KWP1 nsv820617 1 564540 570775 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1419880 M 1 1 0 MIR6723 NA10851 nsv945544 1 564556 566088 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573041,nssv2573044,nssv2573037,nssv2573039,nssv2573042,nssv2573045,nssv2573043,nssv2573036,nssv2573038,nssv2573040 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1004962 1 564621 850675 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 564773 798959 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 564862 568463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707626 M 17421 0 1 MIR6723 dgv3n54 1 565490 570178 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544878,nsv544877 M 17421 0 2 MIR6723 nsv945546 1 568154 569456 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 570056 574939 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573062,nssv2573059,nssv2573063,nssv2573064,nssv2573058,nssv2573060,nssv2573065,nssv2573061,nssv2573057,nssv2573066,nssv2573056 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945726 1 570056 617910 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749770,nssv1749780,nssv1749769,nssv1749768,nssv1750742,nssv1750724,nssv1749754,nssv1749766,nssv1749753,nssv1749779,nssv1750740,nssv1749773,nssv1749765,nssv1750734,nssv1750736,nssv1750733,nssv1750741,nssv1750729,nssv1750738,nssv1749786,nssv1749745,nssv1749794,nssv1749746,nssv1749790,nssv1749756,nssv1749767,nssv1749752,nssv1749776,nssv1749750,nssv1749782,nssv1749762,nssv1750725,nssv1749744,nssv1749783,nssv1749760,nssv1749774,nssv1749761,nssv1749789,nssv1749757,nssv1749778,nssv1750739,nssv1749788,nssv1749755,nssv1750726,nssv1749751,nssv1750730,nssv1750737,nssv1750731,nssv1750735,nssv1749741,nssv1749749,nssv1749775,nssv1749759,nssv1749771,nssv1749742,nssv1750728,nssv1750744,nssv1749792,nssv1749748,nssv1749764,nssv1749758,nssv1749781,nssv1749743,nssv1750727,nssv1749747,nssv1749785,nssv1749772,nssv1750723,nssv1749763,nssv1749795,nssv1750743,nssv1749791,nssv1749787,nssv1750721,nssv1750720,nssv1750722,nssv1749784,nssv1749793,nssv1750732,nssv1749777 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3362065 1 571189 579987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692378 M 185 1 0 "" NA12878 nsv4045041 1 571750 585025 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850204 M 10847 0 1 "" nsv4035416 1 574750 581950 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851040 M 10847 0 1 "" nsv945547 1 574939 580365 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573074,nssv2573087,nssv2573075,nssv2573069,nssv2573070,nssv2573108,nssv2573086,nssv2573092,nssv2573084,nssv2573098,nssv2573110,nssv2573102,nssv2573104,nssv2573073,nssv2573115,nssv2573096,nssv2573095,nssv2573101,nssv2573077,nssv2573093,nssv2573106,nssv2573091,nssv2573094,nssv2573111,nssv2573081,nssv2573089,nssv2573107,nssv2573112,nssv2573071,nssv2573113,nssv2573105,nssv2573072,nssv2573097,nssv2573109,nssv2573090,nssv2573088,nssv2573079,nssv2573100,nssv2573076,nssv2573103,nssv2573114,nssv2573080,nssv2573078,nssv2573085,nssv2573099,nssv2573082,nssv2573083,nssv2573068 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3393199 1 576789 578987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692385 M 185 1 0 "" NA19240 nsv831869 1 579492 743311 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442629,nssv1443184,nssv1442740,nssv1443406,nssv1443073,nssv1443295,nssv1442962,nssv1442851,nssv1443517,nssv1443628 M 95 8 2 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 nsv945549 1 580365 582158 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573123,nssv2573135,nssv2573124,nssv2573154,nssv2573119,nssv2573137,nssv2573152,nssv2573157,nssv2573156,nssv2573127,nssv2573134,nssv2573132,nssv2573161,nssv2573160,nssv2573117,nssv2573142,nssv2573143,nssv2573149,nssv2573133,nssv2573145,nssv2573126,nssv2573155,nssv2573118,nssv2573125,nssv2573153,nssv2573151,nssv2573158,nssv2573129,nssv2573141,nssv2573159,nssv2573147,nssv2573139,nssv2573120,nssv2573130,nssv2573131,nssv2573138,nssv2573148,nssv2573140,nssv2573121,nssv2573128,nssv2573150,nssv2573162,nssv2573144,nssv2573136,nssv2573163,nssv2573122,nssv2573164,nssv2573146 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3363248 1 592089 592987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692393 M 185 1 0 "" NA19238 nsv1077277 1 599099 602300 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768301 M 1 1 0 "" KWP1 nsv4042173 1 599300 605250 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15783384,nssv15781441,nssv15783383,nssv15781440,nssv15783385,nssv15781439,nssv15783387,nssv15783386 M 10847 0 0 "" nsv1126164 1 600100 601700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984391 M 2 0 1 "" KWS1 nsv1149470 1 602999 605900 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000773 M 1 1 0 "" KWB1 nsv4048468 1 603000 623000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780751,nssv15780746,nssv15780750,nssv15780748,nssv15780752,nssv15780747,nssv15780749 M 10847 0 0 OR4F16,OR4F29,OR4F3 nsv4043338 1 603330 603403 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851325 M 10847 0 1 "" dgv12e59 1 603689 605287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3383793,esv3428101 M 185 2 0 "" NA19239,NA19240 nsv3324503 1 603936 604013 CNV line1 deletion Audano_et_al_2019 30661756 Sequencing nssv14739060 M 14 0 1 "" NA19240 nsv3324737 1 604429 604505 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472631 M 14 0 1 "" NA19240 nsv3325837 1 605032 605032 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479168,nssv14478665 M 14 2 0 "" HG00268,HG02106 nsv3324504 1 605300 605300 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490454 M 14 1 0 "" NA12878 nsv1143424 1 605400 623300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980621 M 2 0 1 OR4F16,OR4F29,OR4F3 KWS1 nsv1136052 1 605500 615800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989658 M 2 0 1 "" KWS2 nsv945736 1 617910 637404 OTHER complex Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750752,nssv1750756,nssv1683214,nssv1750750,nssv1750751,nssv1685641,nssv1684714,nssv1750780,nssv1684710,nssv1750768,nssv1683217,nssv1750765,nssv1684708,nssv1750760,nssv1682260,nssv1750773,nssv1683206,nssv1751179,nssv1683218,nssv1750775,nssv1683211,nssv1686462,nssv1684422,nssv1686496,nssv1683213,nssv1750753,nssv1684722,nssv1751183,nssv1683212,nssv1750771,nssv1683219,nssv1750778,nssv1684523,nssv1750766,nssv1684713,nssv1684701,nssv1683221,nssv1684704,nssv1683215,nssv1750774,nssv1683195,nssv1684705,nssv1684715,nssv1750782,nssv1750747,nssv1750755,nssv1684712,nssv1751184,nssv1683220,nssv1751176,nssv1684707,nssv1684702,nssv1682238,nssv1750769,nssv1682226,nssv1686493,nssv1684624,nssv1750767,nssv1683296,nssv1686494,nssv1685439,nssv1750759,nssv1684711,nssv1751178,nssv1684699,nssv1751180,nssv1750754,nssv1750749,nssv1683397,nssv1751185,nssv1682249,nssv1750762,nssv1751181,nssv1750779,nssv1750764,nssv1750757,nssv1750758,nssv1686498,nssv1750776,nssv1750772,nssv1685540,nssv1750777,nssv1684703,nssv1686495,nssv1750748,nssv1750761,nssv1751177,nssv1750746,nssv1751182,nssv1684700,nssv1686361,nssv1750763,nssv1750770,nssv1750781,nssv1686497,nssv1684706,nssv1750745 M 97 10 0 OR4F16,OR4F29,OR4F3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1159749 1 625470 768793 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4025989 M 369 1 0 FAM87B,LINC00115,LINC01128,LOC100133331,LOC100288069 dgv1n111 1 625470 874902 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161363,nsv1161123 M 369 4 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,LOC100133331,LOC100288069,SAMD11 nsv544879 1 629742 697930 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707629 M 17421 0 1 LOC100133331 nsv1136053 1 633400 637100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989659 M 2 0 1 "" KWS2 esv3669611 1 636297 636297 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491854 M 20 1 0 "" nsv945730 1 637404 641365 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573175,nssv2573166,nssv2573168,nssv2573177,nssv2573172,nssv2573186,nssv2573173,nssv2573190,nssv2573171,nssv2573184,nssv2573209,nssv2573207,nssv2573193,nssv2573199,nssv2573195,nssv2573170,nssv2573201,nssv2573194,nssv2573182,nssv2573169,nssv2573179,nssv2573181,nssv2573198,nssv2573210,nssv2573189,nssv2573212,nssv2573192,nssv2573167,nssv2573174,nssv2573185,nssv2573208,nssv2573205,nssv2573213,nssv2573197,nssv2573202,nssv2573206,nssv2573180,nssv2573211,nssv2573204,nssv2573183,nssv2573203,nssv2573188,nssv2573200,nssv2573196,nssv2573178,nssv2573187,nssv2573191,nssv2573176 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945729 1 637404 662433 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751217,nssv1751244,nssv1751198,nssv1751247,nssv1751207,nssv1751252,nssv1751201,nssv1751235,nssv1751214,nssv1751239,nssv1751189,nssv1751226,nssv1751261,nssv1751248,nssv1751263,nssv1751224,nssv1751208,nssv1751230,nssv1751257,nssv1751213,nssv1751259,nssv1751221,nssv1751199,nssv1751249,nssv1751196,nssv1751223,nssv1751187,nssv1751233,nssv1751262,nssv1751228,nssv1751188,nssv1751225,nssv1751210,nssv1751243,nssv1751200,nssv1751216,nssv1751191,nssv1751218,nssv1751197,nssv1751253,nssv1751215,nssv1751209,nssv1751256,nssv1751255,nssv1751260,nssv1751254,nssv1751193,nssv1751246,nssv1751202,nssv1751231,nssv1751190,nssv1751250,nssv1751194,nssv1751241,nssv1751265,nssv1751212,nssv1751192,nssv1751238,nssv1751258,nssv1751240,nssv1751195,nssv1751237,nssv1751204,nssv1751236,nssv1751203,nssv1751222,nssv1751264,nssv1751211,nssv1751206,nssv1751220,nssv1751205,nssv1751251,nssv1751219,nssv1751232,nssv1751245,nssv1751242,nssv1751234,nssv1751186,nssv1751227,nssv1751229 M 97 10 0 LOC100133331 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3324750 1 638281 649380 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14491750 M 14 1 0 "" NA19434 dgv6n106 1 640000 647400 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1115328,nsv1110125 M 2 2 0 "" KWS1,KWS2 nsv1146307 1 640799 686200 CNV duplication John_et_al_2014 26484159 Sequencing nssv3999509 M 1 1 0 LOC100133331 KWB1 nsv945551 1 641365 646620 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573222,nssv2573253,nssv2573217,nssv2573245,nssv2573221,nssv2573261,nssv2573249,nssv2573239,nssv2573220,nssv2573236,nssv2573232,nssv2573219,nssv2573257,nssv2573234,nssv2573229,nssv2573255,nssv2571023,nssv2573259,nssv2573235,nssv2573250,nssv2573218,nssv2573224,nssv2573238,nssv2573256,nssv2573260,nssv2573225,nssv2573237,nssv2573248,nssv2573242,nssv2573240,nssv2573241,nssv2573252,nssv2573243,nssv2573226,nssv2573228,nssv2573230,nssv2573246,nssv2573215,nssv2573247,nssv2573233,nssv2573244,nssv2573231,nssv2573258,nssv2573251,nssv2573216,nssv2573223,nssv2573227,nssv2573254 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3324755 1 645960 645960 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14482408,nssv14475260,nssv14473709,nssv14487832,nssv14476277,nssv14473828,nssv14489303,nssv14477448,nssv14490922,nssv14474761,nssv14480202,nssv14485750 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19434 nsv945552 1 646620 647120 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571027,nssv2571048,nssv2571035,nssv2571072,nssv2571033,nssv2571037,nssv2571031,nssv2571070,nssv2571057,nssv2571050,nssv2571056,nssv2571051,nssv2571024,nssv2571055,nssv2571068,nssv2571062,nssv2571044,nssv2571071,nssv2571067,nssv2571038,nssv2571046,nssv2571060,nssv2571041,nssv2571045,nssv2571042,nssv2571063,nssv2571047,nssv2571036,nssv2571066,nssv2571025,nssv2571034,nssv2571069,nssv2571026,nssv2571030,nssv2571049,nssv2571064,nssv2571077,nssv2571039,nssv2571075,nssv2571073,nssv2571040,nssv2571028,nssv2571029,nssv2571052,nssv2571059,nssv2571053,nssv2571074,nssv2571061,nssv2571058 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3324758 1 647339 647428 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474521,nssv14476323 M 14 0 2 "" HG02818,NA19434 nsv3325858 1 648708 649858 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480619 M 14 0 1 "" NA19434 nsv3325184 1 649705 649754 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490875,nssv14489041,nssv14479691,nssv14478661,nssv14488631,nssv14475044,nssv14473808,nssv14488337,nssv14474062,nssv14488040,nssv14490308,nssv14476127,nssv14485500,nssv14476480 M 14 0 14 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv1128581 1 657800 686600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960492 M 2 1 0 LOC100133331 KWS1 nsv1124555 1 658000 668100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976609 M 2 1 0 LOC100133331 KWS2 nsv4038743 1 658000 676000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780757,nssv15780754,nssv15780758,nssv15780755,nssv15780760,nssv15780759,nssv15780753,nssv15780756 M 10847 0 0 LOC100133331 nsv3325189 1 658481 676080 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14478512 M 14 1 0 LOC100133331 HG01352 nsv3324762 1 660375 662558 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479981 M 14 0 1 LOC100133331 HG02818 nsv945732 1 662433 730328 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751961,nssv1751325,nssv1751275,nssv1751266,nssv1751268,nssv1751314,nssv1751278,nssv1751312,nssv1751966,nssv1751307,nssv1751959,nssv1751974,nssv1751294,nssv1751302,nssv1751287,nssv1751291,nssv1751297,nssv1751289,nssv1751272,nssv1751300,nssv1751277,nssv1751953,nssv1751279,nssv1751304,nssv1751288,nssv1751955,nssv1751282,nssv1751958,nssv1751967,nssv1751322,nssv1751267,nssv1751332,nssv1751962,nssv1751309,nssv1751276,nssv1751975,nssv1751295,nssv1751978,nssv1751271,nssv1751320,nssv1751280,nssv1751327,nssv1751290,nssv1751315,nssv1751273,nssv1751319,nssv1751281,nssv1751310,nssv1751965,nssv1751956,nssv1751963,nssv1751954,nssv1751270,nssv1751977,nssv1751964,nssv1751292,nssv1751274,nssv1751296,nssv1751284,nssv1751308,nssv1751968,nssv1751293,nssv1751960,nssv1751305,nssv1751283,nssv1751299,nssv1751286,nssv1751301,nssv1751269,nssv1751324,nssv1751285,nssv1751957,nssv1751970,nssv1751329,nssv1751306,nssv1751298,nssv1751303,nssv1751333,nssv1751313,nssv1751323,nssv1751334,nssv1751976,nssv1751311,nssv1751318,nssv1751328,nssv1751971,nssv1751335,nssv1751321,nssv1751326,nssv1751952,nssv1751330,nssv1751331,nssv1751316,nssv1751972,nssv1751969,nssv1751973,nssv1751317 M 97 10 0 LOC100133331,LOC100288069 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3325507 1 662680 662680 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481522 M 14 1 0 LOC100133331 HG02818 nsv1077278 1 664299 675100 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770194 M 1 1 0 LOC100133331 KWP1 nsv949792 1 664301 675400 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997104 M 1 1 0 LOC100133331 BILGI_BIOE nsv4517661 1 667725 724000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962068 M 10847 1 0 LOC100288069 esv3584976 1 668630 850204 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839023,essv9838989,essv9839022,essv9838979,essv9838988,essv9838978,essv9838977,essv9838982,essv9838987,essv9838981,essv9838980,essv9838983,essv9838986,essv9838985,essv9838984,essv9838995,essv9839004,essv9839021,essv9838994,essv9838991,essv9838990,essv9838993,essv9838992,essv9838998,essv9839003,essv9838997,essv9838996,essv9838999,essv9839002,essv9839001,essv9839000,essv9839011,essv9839006,essv9839020,essv9839005,essv9839010,essv9839007,essv9839009,essv9839008,essv9839014,essv9839019,essv9839013,essv9839012,essv9839018,essv9839015,essv9839017,essv9839016,essv9839027,essv9839026,essv9839025,essv9839024,essv9839036,essv9839035,essv9839030,essv9839029,essv9839028,essv9839031,essv9839034,essv9839033,essv9839032 M 2504 60 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 HG00306,HG00446,HG00457,HG00463,HG00475,HG00513,HG00543,HG00557,HG00593,HG00614,HG00620,HG00663,HG00675,HG00690,HG00692,HG00766,HG00867,HG00879,HG01028,HG01798,HG01840,HG01857,HG01867,HG01868,HG01871,HG02017,HG02028,HG02086,HG02116,HG02181,HG02353,HG02373,HG02383,HG02384,HG02392,HG02398,HG02401,HG02512,HG04141,NA18535,NA18553,NA18557,NA18564,NA18567,NA18571,NA18572,NA18573,NA18620,NA18635,NA18639,NA18947,NA18951,NA18972,NA18990,NA19006,NA19025,NA19072,NA19079,NA19083,NA20359 nsv4046332 1 668630 850205 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964045 M 10847 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 nsv3325508 1 670606 674014 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489415 M 14 0 1 "" NA19240 nsv1139464 1 672200 675000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977051 M 2 1 0 "" KWS2 nsv3325509 1 672602 672602 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481702,nssv14489663 M 14 2 0 "" HG01352,NA19240 esv3361605 1 673389 675587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692399 M 185 1 0 "" NA12878 esv3345025 1 673589 674987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692400 M 185 1 0 "" NA12891 nsv3324769 1 674868 674868 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476324 M 14 1 0 "" HG01352 nsv1124556 1 679100 686700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976610 M 2 1 0 "" KWS2 nsv3325865 1 681981 698780 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14483715,nssv14487491,nssv14477421,nssv14478139 M 14 4 0 "" HG00514,HG02059,HG02106,NA12878 nsv3325870 1 683597 683597 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14480142 M 14 1 0 "" HG01352 nsv4033399 1 686000 700425 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964131 M 10847 1 0 LOC100288069 nsv1147312 1 704699 712200 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000084 M 1 1 0 LOC100288069 KWB1 nsv999785 1 707087 798959 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463004 M 29084 1 0 FAM87B,LINC00115,LINC01128,LOC100288069 esv2762129 1 707099 837085 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7004879 M 1109 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 RW_0585 nsv1130938 1 709900 723900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967636 M 2 0 1 LOC100288069 KWS2 nsv4533503 1 711673 711674 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030882 M 10847 1 0 LOC100288069 nsv10161 1 712111 1708649 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv18108,nssv26882,nssv24602,nssv24600,nssv28946,nssv28533,nssv21436,nssv21448,nssv21431,nssv28031,nssv28029,nssv26877,nssv28038,nssv24610,nssv28921,nssv26876,nssv24621,nssv28542,nssv28048,nssv28552,nssv26879,nssv26892,nssv28940,nssv21429,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 dgv2n111 1 712545 813318 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161682,nsv1161364 M 369 2 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 esv3584977 1 713044 755966 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839038,essv9839037,essv9839039 M 2504 0 3 FAM87B,LOC100288069 HG01444,NA18976,NA20520 esv3584978 1 713044 755966 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839153,essv9839152,essv9839151,essv9839086,essv9839053,essv9839043,essv9839052,essv9839042,essv9839041,essv9839040,essv9839046,essv9839051,essv9839045,essv9839044,essv9839047,essv9839050,essv9839049,essv9839048,essv9839054,essv9839059,essv9839068,essv9839085,essv9839055,essv9839058,essv9839057,essv9839056,essv9839062,essv9839067,essv9839061,essv9839060,essv9839063,essv9839066,essv9839065,essv9839064,essv9839084,essv9839075,essv9839069,essv9839070,essv9839074,essv9839071,essv9839073,essv9839072,essv9839078,essv9839083,essv9839077,essv9839076,essv9839079,essv9839082,essv9839081,essv9839080,essv9839091,essv9839117,essv9839100,essv9839090,essv9839087,essv9839150,essv9839089,essv9839088,essv9839094,essv9839099,essv9839093,essv9839092,essv9839098,essv9839095,essv9839097,essv9839096,essv9839102,essv9839107,essv9839101,essv9839116,essv9839106,essv9839103,essv9839105,essv9839104,essv9839110,essv9839115,essv9839109,essv9839108,essv9839111,essv9839114,essv9839113,essv9839112,essv9839123,essv9839119,essv9839149,essv9839118,essv9839132,essv9839122,essv9839121,essv9839120,essv9839124,essv9839131,essv9839126,essv9839125,essv9839127,essv9839130,essv9839128,essv9839129,essv9839139,essv9839134,essv9839148,essv9839133,essv9839138,essv9839135,essv9839137,essv9839136,essv9839142,essv9839147,essv9839141,essv9839140,essv9839143,essv9839146,essv9839145,essv9839144,essv9839212,essv9839179,essv9839154,essv9839162,essv9839161,essv9839160,essv9839156,essv9839155,essv9839159,essv9839158,essv9839157,essv9839164,essv9839178,essv9839169,essv9839163,essv9839168,essv9839165,essv9839167,essv9839166,essv9839172,essv9839177,essv9839171,essv9839170,essv9839173,essv9839176,essv9839175,essv9839174,essv9839185,essv9839180,essv9839194,essv9839211,essv9839184,essv9839181,essv9839183,essv9839182,essv9839188,essv9839193,essv9839187,essv9839186,essv9839189,essv9839192,essv9839191,essv9839190,essv9839196,essv9839210,essv9839201,essv9839195,essv9839200,essv9839197,essv9839198,essv9839199,essv9839209,essv9839203,essv9839202,essv9839204,essv9839205,essv9839208,essv9839207,essv9839206,essv9839217,essv9839226,essv9839216,essv9839215,essv9839214,essv9839213,essv9839225,essv9839219,essv9839218,essv9839220,essv9839224,essv9839221,essv9839222,essv9839223,essv9839228,essv9839233,essv9839227,essv9839232,essv9839229,essv9839231,essv9839230,essv9839236,essv9839234,essv9839241,essv9839235,essv9839240,essv9839237,essv9839239,essv9839238 M 2504 202 0 FAM87B,LOC100288069 HG00131,HG00133,HG00148,HG00181,HG00255,HG00273,HG00277,HG00306,HG00344,HG00355,HG00362,HG00446,HG00457,HG00463,HG00475,HG00513,HG00543,HG00557,HG00593,HG00614,HG00620,HG00663,HG00675,HG00690,HG00692,HG00740,HG00766,HG00867,HG00879,HG01028,HG01088,HG01092,HG01119,HG01259,HG01359,HG01365,HG01384,HG01390,HG01413,HG01438,HG01512,HG01565,HG01571,HG01626,HG01669,HG01682,HG01709,HG01746,HG01747,HG01784,HG01798,HG01840,HG01857,HG01865,HG01867,HG01868,HG01871,HG01880,HG01958,HG01971,HG01986,HG02017,HG02028,HG02079,HG02111,HG02113,HG02116,HG02181,HG02220,HG02223,HG02299,HG02334,HG02353,HG02373,HG02383,HG02384,HG02392,HG02398,HG02401,HG02419,HG02442,HG02477,HG02512,HG02561,HG02562,HG02577,HG02623,HG02724,HG02734,HG02768,HG02775,HG02798,HG02807,HG02808,HG02813,HG02878,HG02952,HG03015,HG03189,HG03196,HG03234,HG03240,HG03343,HG03401,HG03484,HG03511,HG03515,HG03611,HG03615,HG03687,HG03695,HG03718,HG03731,HG03733,HG03774,HG03805,HG03812,HG03826,HG03844,HG03858,HG03862,HG03870,HG03899,HG03905,HG03944,HG04029,HG04094,HG04141,HG04159,HG04185,NA07056,NA07357,NA11918,NA11995,NA12750,NA12777,NA12872,NA12873,NA18535,NA18553,NA18557,NA18564,NA18567,NA18571,NA18572,NA18573,NA18620,NA18635,NA18639,NA18916,NA18947,NA18951,NA18972,NA18989,NA18990,NA19006,NA19025,NA19031,NA19070,NA19079,NA19083,NA19200,NA19375,NA19449,NA19712,NA19749,NA19782,NA19792,NA19904,NA20278,NA20291,NA20332,NA20346,NA20359,NA20505,NA20507,NA20524,NA20532,NA20534,NA20539,NA20761,NA20766,NA20792,NA20806,NA20808,NA20811,NA20812,NA20858,NA20859,NA20885,NA20889,NA20892,NA21089,NA21094,NA21101,NA21111,NA21119,NA21124,NA21125,NA21141,NA21143,NA21144 nsv508722 1 717919 744073 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619756 M 4 1 0 "" NA10860 nsv510950 1 717919 747342 OTHER complex Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621648,nssv624357 M 4 0 0 "" NA15510,NA18994 dgv3n111 1 718663 874902 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161849,nsv1161536 M 369 2 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,SAMD11 nsv4558894 1 720320 720321 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032086 M 10847 1 0 "" nsv949808 1 723901 727200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997115 M 1 1 0 "" BILGI_BIOE nsv1076310 1 724099 727000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3765885 M 1 1 0 "" KWP1 nsv1148789 1 724099 728000 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997574 M 1 1 0 "" KWB1 nsv1132275 1 724100 728000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987042 M 2 1 0 "" KWS1 nsv513729 1 724132 726937 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626981 M 1 1 0 "" 1 nsv544880 1 724300 725737 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707630 M 17421 1 0 "" dgv4n54 1 724300 727037 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544884,nsv544883,nsv544881,nsv544882,nsv544886,nsv544888 M 17421 12 0 "" esv26272 1 724314 727245 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17593 M 40 0 4 "" NA11894,NA12006,NA12287,NA12828 nsv820807 1 724314 727245 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420291 M 1 1 0 "" NA10851 dgv5n54 1 724519 726794 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544887,nsv544885,nsv544890,nsv544891 M 17421 23 5 "" nsv544889 1 724849 726398 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707648 M 17421 0 1 "" nsv3324799 1 724862 724862 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483901,nssv14475916,nssv14476961,nssv14474035,nssv14491170,nssv14478875,nssv14488124,nssv14480299,nssv14475978,nssv14490361,nssv14491204,nssv14482042,nssv14483122,nssv14475277 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3325543 1 725088 725088 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479898 M 14 1 0 "" HG01352 nsv3325230 1 725254 725254 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472170 M 14 1 0 "" HG01352 nsv3325231 1 725323 725323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478924 M 14 1 0 "" HG01352 nsv544892 1 725409 726794 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707672 M 17421 0 1 "" nsv544893 1 725737 752566 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707673 M 17421 0 1 "" esv2713915 1 726720 727137 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961443,essv6921667 M 96 0 2 "" SSM018,SSM027 nsv3324801 1 726881 748480 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14487886,nssv14475367,nssv14491330,nssv14480397,nssv14473949,nssv14479502,nssv14483676,nssv14488658,nssv14474662,nssv14482371,nssv14488987,nssv14490315 M 14 12 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 nsv1112513 1 727100 750100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966611 M 2 0 1 "" KWS2 nsv4517890 1 728000 733650 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964159 M 10847 1 0 "" nsv4033807 1 728092 776880 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852386 M 10847 0 1 FAM87B,LINC00115,LINC01128 esv3584979 1 738570 742020 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839242 M 2504 0 1 "" NA19000 nsv4046689 1 738610 742016 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851177 M 10847 0 1 "" esv2656593 1 738618 742106 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5805894 M 1151 0 1 "" NA19000 nsv945734 1 738914 795375 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752023,nssv1751989,nssv1752026,nssv1752010,nssv1752039,nssv1751991,nssv1752006,nssv1751986,nssv1752004,nssv1752000,nssv1752025,nssv1751993,nssv1752032,nssv1752056,nssv1752015,nssv1752051,nssv1752024,nssv1751994,nssv1752045,nssv1751981,nssv1752041,nssv1752008,nssv1752009,nssv1752052,nssv1752035,nssv1751983,nssv1752018,nssv1751990,nssv1752036,nssv1751980,nssv1752029,nssv1752057,nssv1752034,nssv1752001,nssv1752044,nssv1751999,nssv1752012,nssv1751984,nssv1752020,nssv1752049,nssv1752037,nssv1751998,nssv1752002,nssv1751992,nssv1752047,nssv1751988,nssv1752005,nssv1751985,nssv1752033,nssv1752003,nssv1752046,nssv1752055,nssv1752040,nssv1752053,nssv1752013,nssv1751995,nssv1752043,nssv1752007,nssv1752011,nssv1752050,nssv1752022,nssv1751987,nssv1752042,nssv1752058,nssv1752019,nssv1752054,nssv1752027,nssv1751997,nssv1752030,nssv1751996,nssv1752048,nssv1751982,nssv1752016,nssv1752028,nssv1752021,nssv1752017,nssv1752031,nssv1752014,nssv1752038,nssv1751979 M 97 10 0 FAM87B,LINC00115,LINC01128 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1005935 1 740857 850675 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696752 M 29084 1 0 FAM41C,FAM87B,LINC00115,LINC01128 nsv4039815 1 744700 751000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964631 M 10847 1 0 "" dgv1n67 1 746408 849937 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv822808,nsv823919,nsv821697 M 31 4 0 FAM41C,FAM87B,LINC00115,LINC01128 NA18564,NA18947,NA18951,NA18972 nsv4045056 1 746764 747331 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852112 M 10847 0 1 "" nsv3325560 1 749930 749930 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476115 M 14 1 0 "" HG02818 nsv3324818 1 750013 750013 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483226,nssv14484607,nssv14473264,nssv14474590,nssv14475748,nssv14484016 M 14 6 0 "" CHM13,HG02059,HG02106,HG04217,HX1,NA19434 esv3890635 1 752566 784023 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25788744,essv25789091 M 3017 2 0 FAM87B,LINC00115,LINC01128 dgv1e55 1 752566 799463 CNV gain Pinto_et_al_2007 17911159 SNP array esv34681,esv34886 M 771 4 0 FAM87B,LINC00115,LINC01128 NA18620,NA18947 nsv517709 1 752566 1211292 CNV gain+loss Shaikh_et_al_2009 19592680 SNP array nssv657472,nssv662754,nssv677805,nssv677935,nssv667239,nssv681209,nssv688100,nssv654371,nssv658652,nssv668090,nssv662132,nssv660727,nssv691743,nssv652918,nssv683576,nssv670683,nssv669544,nssv680332,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 754193 762622 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14965 M 40 1 0 FAM87B,LINC00115 NA18916 nsv950386 1 754201 759100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997126 M 1 0 1 FAM87B BILGI_BIOE esv33946 1 754205 779756 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv101171,essv96332 M 51 2 0 FAM87B,LINC00115,LINC01128 21618,22371 dgv2n166 1 754260 857641 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4037415,nsv4047355 M 10847 2 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417 nsv1115329 1 755400 758800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976381 M 2 1 0 "" KWS2 nsv3325256 1 755438 756522 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481703 M 14 0 1 "" CHM1 nsv4040585 1 755440 756516 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780765,nssv15780773,nssv15780767,nssv15780761,nssv15780776,nssv15780766,nssv15780763,nssv15780770,nssv15780774,nssv15780772,nssv15780764,nssv15780771,nssv15780768,nssv15780762,nssv15780777,nssv15780769,nssv15780775,nssv15780778 M 10847 0 0 "" esv3662913 1 755483 755483 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485825 M 20 1 0 "" esv3663634 1 755572 755572 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486474 M 20 1 0 "" esv2713916 1 755671 756823 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6892259,essv6821118,essv6832527,essv6859129,essv6950479,essv6828947,essv6909990,essv6780792,essv6714176,essv6679102,essv6836112,essv6710539,essv6902471,essv6925638,essv6937615,essv6876308,essv6846928,essv6839905,essv6941722,essv6961444,essv6703800,essv6813123,essv6913942,essv6675157,essv6917364,essv6972236,essv6675156,essv6682789,essv6946436,essv6967856 M 96 0 29 "" SSM012,SSM013,SSM015,SSM016,SSM017,SSM019,SSM022,SSM023,SSM024,SSM025,SSM027,SSM028,SSM029,SSM032,SSM033,SSM034,SSM040,SSM042,SSM043,SSM068,SSM077,SSM079,SSM081,SSM082,SSM083,SSM084,SSM086,SSM088,SSM098 nsv4517850 1 755707 755892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853069 M 10847 0 1 "" nsv1147722 1 755799 758800 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996505 M 1 1 0 "" KWB1 nsv1076311 1 755899 758700 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770041 M 1 1 0 "" KWP1 dgv1e201 1 756248 758841 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2725027,esv2746029 M 96 0 38 "" SSM003,SSM009,SSM016,SSM017,SSM020,SSM024,SSM026,SSM027,SSM031,SSM032,SSM033,SSM039,SSM043,SSM045,SSM047,SSM049,SSM055,SSM056,SSM058,SSM066,SSM067,SSM069,SSM070,SSM071,SSM073,SSM079,SSM083,SSM085,SSM086,SSM087,SSM088,SSM091,SSM093,SSM094,SSM095,SSM096,SSM098,SSM100 esv3670980 1 756259 756259 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493087 M 20 1 0 "" nsv3325562 1 756260 756260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476674,nssv14483651,nssv14477870,nssv14474591,nssv14485208,nssv14490773,nssv14473911,nssv14481061,nssv14482248 M 14 9 0 "" HG00268,HG00733,HG01352,HG02059,HG02818,HG04217,NA12878,NA19240,NA19434 esv1032937 1 756267 756267 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3703690 M 2 1 0 "" HuRef esv2736138 1 756301 756354 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6846928 M 96 0 1 "" SSM086 esv2743807 1 756312 756571 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859129,essv6675157 M 96 0 2 "" SSM032,SSM088 esv2744918 1 756340 756432 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859129 M 96 0 1 "" SSM088 nsv4034505 1 756572 758603 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965355 M 10847 1 0 "" dgv3n166 1 757421 834328 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4040204,nsv4045042 M 10847 0 2 FAM41C,LINC00115,LINC01128 esv2747140 1 757864 758041 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6773385 M 96 0 1 "" SSM066 nsv4041087 1 758115 758372 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850440 M 10847 0 1 "" nsv4035690 1 758559 758853 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853218 M 10847 0 1 "" nsv4536905 1 758751 758752 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024556 M 10847 1 0 "" nsv4537392 1 758761 758762 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023525 M 10847 1 0 "" nsv3325257 1 758831 758900 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491735 M 14 0 1 "" NA19434 nsv442837 1 766101 809773 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617613,nssv1616724,nssv1617835,nssv1616613,nssv1618057,nssv1616612,nssv1617502,nssv1617946,nssv1617391,nssv1617724,nssv1618168 M 270 10 1 FAM41C,LINC01128 NA18564,NA18571,NA18572,NA18573,NA18620,NA18635,NA18947,NA18951,NA18972,NA18976,NA18990 esv2748251 1 766408 769112 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6695432,essv6759010 M 96 0 2 LINC01128 SSM006,SSM061 esv2661847 1 766593 769112 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6418188,essv5523850,essv6030252,essv5518894,essv5900400,essv5809976,essv6563096,essv5557684,essv6509658,essv5451591,essv5813808,essv5654029,essv6309202,essv5583588,essv6192957,essv5539265,essv6137789,essv5520084,essv6482771,essv5781826,essv6060841,essv5707758,essv6542198,essv5448104,essv6064913,essv5616233,essv6067864,essv5590254,essv6041253,essv5632149,essv6345187,essv5500219,essv6276121,essv5469214,essv6047722,essv5403827,essv6287654,essv5803927,essv6295988,essv5519573,essv5901179,essv5758742,essv6355316,essv6512898,essv6027023,essv5935659,essv6021317,essv6555045,essv5952876 M 1151 0 49 LINC01128 HG00448,HG00463,HG00512,HG00513,HG00553,HG00557,HG00583,HG00584,HG00608,HG00614,HG00620,HG00651,HG00663,HG00690,HG01066,HG01204,HG01359,HG01494,NA18553,NA18557,NA18564,NA18565,NA18573,NA18592,NA18595,NA18609,NA18613,NA18620,NA18873,NA18951,NA18964,NA18984,NA18985,NA18990,NA18999,NA19004,NA19066,NA19070,NA19074,NA19080,NA19083,NA19087,NA19213,NA19239,NA19461,NA19473,NA19655,NA19657,NA19747 nsv3324823 1 766595 769113 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479430 M 14 0 1 LINC01128 HG01352 nsv4038489 1 766596 769112 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853869 M 10847 0 1 LINC01128 esv3584980 1 766600 769112 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839277,essv9839407,essv9839381,essv9839243,essv9839276,essv9839245,essv9839249,essv9839275,essv9839244,essv9839258,essv9839246,essv9839248,essv9839247,essv9839250,essv9839257,essv9839252,essv9839251,essv9839253,essv9839256,essv9839255,essv9839254,essv9839265,essv9839260,essv9839274,essv9839259,essv9839264,essv9839261,essv9839262,essv9839263,essv9839268,essv9839266,essv9839273,essv9839267,essv9839269,essv9839272,essv9839271,essv9839270,essv9839301,essv9839306,essv9839300,essv9839278,essv9839279,essv9839339,essv9839287,essv9839406,essv9839380,essv9839281,essv9839286,essv9839280,essv9839282,essv9839285,essv9839284,essv9839283,essv9839293,essv9839288,essv9839299,essv9839305,essv9839292,essv9839289,essv9839291,essv9839290,essv9839298,essv9839295,essv9839304,essv9839294,essv9839297,essv9839303,essv9839296,essv9839302,essv9839312,essv9839309,essv9839338,essv9839308,essv9839307,essv9839321,essv9839311,essv9839310,essv9839315,essv9839313,essv9839320,essv9839314,essv9839319,essv9839316,essv9839318,essv9839317,essv9839328,essv9839323,essv9839322,essv9839337,essv9839324,essv9839327,essv9839326,essv9839325,essv9839331,essv9839336,essv9839330,essv9839329,essv9839332,essv9839335,essv9839334,essv9839333,essv9839379,essv9839369,essv9839352,essv9839342,essv9839405,essv9839343,essv9839341,essv9839340,essv9839346,essv9839351,essv9839345,essv9839344,essv9839350,essv9839347,essv9839349,essv9839348,essv9839354,essv9839368,essv9839359,essv9839353,essv9839358,essv9839355,essv9839357,essv9839356,essv9839362,essv9839367,essv9839361,essv9839360,essv9839363,essv9839366,essv9839365,essv9839364,essv9839378,essv9839377,essv9839387,essv9839404,essv9839373,essv9839372,essv9839371,essv9839370,essv9839376,essv9839375,essv9839386,essv9839374,essv9839385,essv9839382,essv9839383,essv9839384,essv9839394,essv9839389,essv9839403,essv9839388,essv9839393,essv9839390,essv9839392,essv9839391,essv9839397,essv9839402,essv9839396,essv9839395,essv9839398,essv9839401,essv9839400,essv9839399,essv9839416,essv9839412,essv9839411,essv9839410,essv9839414,essv9839409,essv9839415,essv9839408,essv9839413,essv9839423,essv9839418,essv9839417,essv9839422,essv9839419,essv9839421,essv9839420 M 2504 0 181 LINC01128 HG00313,HG00409,HG00421,HG00448,HG00452,HG00473,HG00475,HG00513,HG00531,HG00553,HG00583,HG00584,HG00607,HG00608,HG00651,HG00662,HG00675,HG00864,HG00956,HG01054,HG01055,HG01066,HG01083,HG01122,HG01204,HG01250,HG01254,HG01341,HG01348,HG01350,HG01357,HG01359,HG01362,HG01378,HG01393,HG01462,HG01488,HG01489,HG01494,HG01597,HG01794,HG01807,HG01810,HG01811,HG01813,HG01848,HG01858,HG01864,HG01915,HG01927,HG01947,HG01953,HG01968,HG01971,HG01982,HG01997,HG02025,HG02029,HG02051,HG02052,HG02082,HG02086,HG02121,HG02130,HG02133,HG02140,HG02150,HG02165,HG02181,HG02185,HG02186,HG02298,HG02312,HG02339,HG02353,HG02375,HG02382,HG02383,HG02384,HG02391,HG02392,HG02401,HG02408,HG02586,HG02675,HG02807,HG02839,HG02878,HG02884,HG03006,HG03135,HG03547,HG03607,HG03631,HG03634,HG03716,HG03745,HG03755,HG03762,HG03824,HG03838,HG03844,HG03856,HG03875,HG03890,HG03937,HG04018,HG04076,HG04094,HG04176,HG04180,HG04210,HG04214,HG04219,HG04239,NA18528,NA18535,NA18552,NA18553,NA18558,NA18560,NA18565,NA18567,NA18570,NA18571,NA18573,NA18579,NA18592,NA18595,NA18608,NA18609,NA18613,NA18620,NA18623,NA18629,NA18749,NA18757,NA18873,NA18940,NA18951,NA18952,NA18962,NA18964,NA18966,NA18972,NA18976,NA18984,NA18985,NA18993,NA18999,NA19004,NA19011,NA19058,NA19066,NA19074,NA19079,NA19080,NA19087,NA19185,NA19213,NA19239,NA19310,NA19461,NA19473,NA19655,NA19657,NA19726,NA19729,NA19732,NA19741,NA19747,NA19755,NA19758,NA19762,NA20862,NA20882,NA20892,NA20900,NA20903,NA20911,NA21115 esv2762248 1 768793 791010 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7007410 M 1109 0 1 LINC01128 SW_1162 nsv1159750 1 768793 818586 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4025990 M 369 1 0 FAM41C,LINC01128 nsv298 1 772399 792659 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3151 M 9 1 0 LINC01128 NA12878 esv3584981 1 773090 852664 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839425,essv9839424 M 2504 0 2 FAM41C,LINC01128 HG00743,HG01444 esv3584982 1 773090 852664 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839472,essv9839471,essv9839470,essv9839469,essv9839466,essv9839433,essv9839467,essv9839473,essv9839468,essv9839432,essv9839426,essv9839431,essv9839427,essv9839430,essv9839429,essv9839428,essv9839438,essv9839464,essv9839447,essv9839465,essv9839434,essv9839437,essv9839436,essv9839435,essv9839441,essv9839439,essv9839446,essv9839440,essv9839445,essv9839442,essv9839443,essv9839444,essv9839449,essv9839463,essv9839454,essv9839448,essv9839453,essv9839450,essv9839452,essv9839451,essv9839457,essv9839462,essv9839456,essv9839455,essv9839461,essv9839458,essv9839460,essv9839459,essv9839478,essv9839477,essv9839474,essv9839476,essv9839475,essv9839481,essv9839480,essv9839479,essv9839482,essv9839484,essv9839483 M 2504 59 0 FAM41C,LINC01128 HG00446,HG00457,HG00463,HG00475,HG00513,HG00543,HG00557,HG00593,HG00614,HG00620,HG00663,HG00675,HG00690,HG00692,HG00766,HG00867,HG00879,HG01028,HG01798,HG01840,HG01857,HG01867,HG01868,HG01871,HG02017,HG02028,HG02116,HG02181,HG02353,HG02373,HG02383,HG02384,HG02392,HG02398,HG02401,HG02512,HG04141,NA18535,NA18553,NA18557,NA18564,NA18567,NA18571,NA18572,NA18573,NA18620,NA18635,NA18639,NA18947,NA18951,NA18972,NA18989,NA18990,NA19006,NA19025,NA19070,NA19079,NA19083,NA20359 nsv4320551 1 774569 828435 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788836 M 10847 0 0 FAM41C,LINC01128 esv2749362 1 774752 774809 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6853155 M 96 0 1 LINC01128 SSM087 esv2713917 1 774759 774921 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6876319,essv6846930,essv6929011,essv6967857 M 96 0 4 LINC01128 SSM012,SSM020,SSM028,SSM086 esv2715028 1 774866 774926 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954639 M 96 0 1 LINC01128 SSM026 esv3584983 1 775292 791968 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839487,essv9839486,essv9839485,essv9839494,essv9839489,essv9839488,essv9839493,essv9839490,essv9839492,essv9839491,essv9839497,essv9839496,essv9839495,essv9839498,essv9839499 M 2504 0 15 LINC01128 HG01177,HG01350,HG01357,HG01359,HG01374,HG01375,HG01389,HG01491,HG01498,HG01680,HG01766,HG01785,NA07051,NA18976,NA20812 esv3539675 1 776659 792588 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9738422 M 767 0 1 LINC01128 esv2663916 1 776769 791881 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5463605,essv6143600,essv5826571,essv6257481,essv6345413,essv6094713,essv6020202 M 1151 0 7 LINC01128 HG01350,HG01357,HG01359,HG01374,HG01375,HG01389,HG01491 nsv4035427 1 776769 791881 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850980 M 10847 0 1 LINC01128 nsv1009537 1 777122 850675 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467703 M 29084 1 0 FAM41C,LINC01128 nsv832980 1 783659 942417 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443740 M 95 1 0 C1orf170,FAM41C,HES4,KLHL17,LINC01128,LOC100130417,NOC2L,PLEKHN1,SAMD11 esv2716139 1 788933 789202 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6950480 M 96 0 1 LINC01128 SSM025 esv1517733 1 789021 789070 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4242314 M 2 0 1 LINC01128 HuRef nsv508924 1 789759 820329 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619757 M 4 1 0 FAM41C,LINC01128 NA10860 nsv1074928 1 790696 790756 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768186 M 1 0 1 LINC01128 KWP1 nsv1133788 1 790697 790756 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969359 M 2 0 1 LINC01128 KWS2 nsv4050524 1 794396 865117 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965394 M 10847 1 0 FAM41C,LINC01128,LOC100130417,SAMD11 nsv4046119 1 794492 799538 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851756 M 10847 0 1 LINC01128 esv3584984 1 794496 799549 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839501,essv9839500 M 2504 0 2 LINC01128 NA18976,NA19649 nsv945735 1 795375 796622 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752136,nssv1752118,nssv1752066,nssv1752135,nssv1752080,nssv1752108,nssv1752079,nssv1752084,nssv1752143,nssv1752131,nssv1752138,nssv1752101,nssv1752061,nssv1752059,nssv1752063,nssv1752148,nssv1752090,nssv1752111,nssv1752060,nssv1752153,nssv1752068,nssv1752107,nssv1752139,nssv1752103,nssv1752074,nssv1752106,nssv1752069,nssv1752146,nssv1752140,nssv1752094,nssv1752141,nssv1752095,nssv1752081,nssv1752154,nssv1752087,nssv1752120,nssv1752062,nssv1752150,nssv1752071,nssv1752152,nssv1752078,nssv1752112,nssv1752144,nssv1752149,nssv1752142,nssv1752130,nssv1752083,nssv1752125,nssv1752065,nssv1752124,nssv1752072,nssv1752104,nssv1752064,nssv1752089,nssv1752075,nssv1752092,nssv1752067,nssv1752116,nssv1752070,nssv1752086,nssv1752073,nssv1752132,nssv1752145,nssv1752155,nssv1752077,nssv1752098,nssv1752076,nssv1752082,nssv1752088,nssv1752134,nssv1752137,nssv1752147,nssv1752085,nssv1752091,nssv1752126,nssv1752113,nssv1752100,nssv1752117,nssv1752109,nssv1752122,nssv1752105,nssv1752119,nssv1752127,nssv1752123,nssv1752097,nssv1752121,nssv1752099,nssv1752110,nssv1752102,nssv1752115,nssv1752133,nssv1752096,nssv1752129,nssv1752128,nssv1752151,nssv1752114,nssv1752093 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945738 1 796622 801314 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752170,nssv1752197,nssv1752177,nssv1752212,nssv1752233,nssv1752220,nssv1752163,nssv1752183,nssv1752176,nssv1752205,nssv1752162,nssv1752215,nssv1752166,nssv1752211,nssv1752228,nssv1752201,nssv1752231,nssv1752219,nssv1752160,nssv1752190,nssv1752159,nssv1752208,nssv1752168,nssv1752216,nssv1752167,nssv1752194,nssv1752229,nssv1752196,nssv1752178,nssv1752198,nssv1752185,nssv1752199,nssv1752187,nssv1752203,nssv1752165,nssv1752193,nssv1752232,nssv1752156,nssv1752180,nssv1752200,nssv1752169,nssv1752209,nssv1752230,nssv1752217,nssv1752161,nssv1752179,nssv1752172,nssv1752186,nssv1752157,nssv1752191,nssv1752184,nssv1752192,nssv1752175,nssv1752181,nssv1752171,nssv1752204,nssv1752226,nssv1752221,nssv1752234,nssv1752210,nssv1752227,nssv1752195,nssv1752164,nssv1752214,nssv1752235,nssv1752223,nssv1752174,nssv1752222,nssv1752158,nssv1752182,nssv1752173,nssv1752206,nssv1752225,nssv1752188,nssv1752189,nssv1752224,nssv1752213,nssv1752202,nssv1752218,nssv1752207 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945739 1 801314 826539 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752239,nssv1749312,nssv1752254,nssv1749311,nssv1752243,nssv1753185,nssv1753191,nssv1753213,nssv1752247,nssv1749332,nssv1752244,nssv1753196,nssv1749317,nssv1753231,nssv1749313,nssv1749310,nssv1752242,nssv1749330,nssv1752256,nssv1753205,nssv1749319,nssv1753227,nssv1752250,nssv1753214,nssv1752238,nssv1753218,nssv1749318,nssv1749334,nssv1752246,nssv1753195,nssv1749323,nssv1753199,nssv1752251,nssv1749324,nssv1749321,nssv1753201,nssv1749322,nssv1753212,nssv1753188,nssv1753221,nssv1749314,nssv1749333,nssv1752258,nssv1753206,nssv1749316,nssv1753216,nssv1752240,nssv1753230,nssv1752248,nssv1753226,nssv1753189,nssv1753229,nssv1752249,nssv1753200,nssv1752241,nssv1753203,nssv1752257,nssv1752236,nssv1752252,nssv1753217,nssv1752245,nssv1753192,nssv1752237,nssv1753198,nssv1752255,nssv1753209,nssv1753184,nssv1753215,nssv1752253,nssv1753223,nssv1749320,nssv1753187,nssv1753219,nssv1753228,nssv1753224,nssv1749327,nssv1749325,nssv1753210,nssv1753186,nssv1753222,nssv1753193,nssv1753208,nssv1753204,nssv1753232,nssv1749331,nssv1753202,nssv1753211,nssv1753220,nssv1753225,nssv1752259,nssv1749328,nssv1749309,nssv1753194,nssv1749329,nssv1753207,nssv1753197,nssv1753190 M 97 10 0 FAM41C HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3325581 1 802232 802232 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478943 M 14 1 0 "" NA19240 esv1069885 1 802251 802251 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3978908 M 2 1 0 "" HuRef nsv4518347 1 804000 812000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965413 M 10847 1 0 FAM41C dgv4n111 1 804456 850017 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1160643,nsv1159974 M 369 3 0 FAM41C esv3683303 1 807937 808041 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468050 M 20 0 1 FAM41C nsv3324838 1 808050 808259 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482991 M 14 0 1 FAM41C HG02818 nsv3325587 1 808323 808323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479774 M 14 1 0 FAM41C HG02106 nsv4034405 1 808349 808487 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851849 M 10847 0 1 FAM41C nsv428334 1 809751 1155949 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 811073 812079 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652099 M 185 1 0 FAM41C NA19240 esv991325 1 811077 811838 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564868 M 3 1 0 FAM41C HuRef nsv1073556 1 811199 811900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766392 M 1 0 1 FAM41C KWP1 nsv1142735 1 811300 811700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994234 M 2 0 1 FAM41C KWS1 nsv3324839 1 811391 811391 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477869 M 14 1 0 FAM41C HG02106 nsv3324840 1 811399 811399 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475225,nssv14488417,nssv14491096,nssv14475453,nssv14478594,nssv14476531,nssv14478170 M 14 7 0 FAM41C CHM1,CHM13,HG00268,HG00733,HG02106,NA12878,NA19240 nsv3325960 1 811401 811401 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485474,nssv14484134,nssv14489797 M 14 3 0 FAM41C HG00733,NA12878,NA19240 nsv3324841 1 811755 811755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476074,nssv14490209 M 14 2 0 FAM41C HG00268,NA12878 nsv3325589 1 811761 811761 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478351 M 14 1 0 FAM41C NA19240 dgv2n67 1 812998 1361880 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 nsv950387 1 815101 826200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997137 M 1 1 0 "" BILGI_BIOE nsv1122279 1 815600 815683 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969730 M 2 0 1 "" KWS2 esv3674888 1 816218 816219 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496602 M 20 0 0 "" nsv1133789 1 817209 817273 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969360 M 2 0 1 "" KWS2 nsv1124557 1 817700 825300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976611 M 2 1 0 "" KWS2 nsv1145304 1 818330 818404 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982395 M 2 0 1 "" KWS1 nsv4516656 1 818500 824000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965421 M 10847 1 0 "" nsv4462122 1 818807 818808 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024191 M 10847 1 0 "" esv3382589 1 820803 820855 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740932 M 185 1 0 "" NA12878 nsv4033895 1 821664 837827 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965430 M 10847 1 0 "" esv3358119 1 822853 822861 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863668,essv7863667 M 185 2 0 "" NA12005,NA18953 nsv4560757 1 823258 823259 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022250 M 10847 1 0 "" nsv1137714 1 823373 823426 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990215 M 2 0 1 "" KWS2 esv3684099 1 823760 823842 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468766 M 20 0 1 "" nsv4048595 1 823921 823997 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963004 M 10847 1 0 "" esv3400943 1 825053 825053 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8825303 M 185 1 0 "" NA19240 nsv945562 1 826539 834209 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572158,nssv2572175,nssv2572155,nssv2572161,nssv2572151,nssv2572178,nssv2572156,nssv2572184,nssv2572176,nssv2572177,nssv2572160,nssv2572182,nssv2572153,nssv2572179,nssv2572190,nssv2572166,nssv2572169,nssv2572173,nssv2572185,nssv2572171,nssv2572164,nssv2572159,nssv2572194,nssv2572167,nssv2572183,nssv2572180,nssv2572172,nssv2572157,nssv2572181,nssv2572193,nssv2572154,nssv2572192,nssv2572165,nssv2572196,nssv2572170,nssv2572174,nssv2572168,nssv2572195,nssv2572188,nssv2572189,nssv2572150,nssv2572191,nssv2572163,nssv2572162,nssv2572152,nssv2572187,nssv2572186,nssv2572149 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv509035 1 826786 921104 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 esv3672779 1 827304 827442 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16494704 M 20 0 1 "" nsv4279519 1 829181 829182 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024628,nssv16022931 M 10847 2 0 "" esv3684935 1 832091 832091 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469518 M 20 1 0 "" nsv950451 1 834801 1029900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997148 M 1 0 1 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 BILGI_BIOE nsv1112514 1 839500 840500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966612 M 2 0 1 "" KWS2 nsv1074399 1 839599 840800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772204 M 1 0 1 "" KWP1 nsv4034991 1 839849 839950 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963021 M 10847 1 0 "" esv3675717 1 839858 839957 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497349 M 20 0 1 "" nsv3325974 1 839859 839956 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483160,nssv14479725,nssv14485209,nssv14478463,nssv14474529,nssv14487508 M 14 0 6 "" CHM1,HG00733,HG01352,HG02818,NA19240,NA19434 nsv4534482 1 839906 839907 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024696 M 10847 1 0 "" nsv3325312 1 839958 840020 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472397 M 14 0 1 "" NA19434 nsv3325976 1 839972 839972 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486231 M 14 1 0 "" CHM13 nsv4537581 1 840008 840009 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024209 M 10847 1 0 "" nsv4534368 1 840016 840017 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023615 M 10847 1 0 "" nsv3325977 1 840037 840037 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479423 M 14 1 0 "" HG04217 nsv3325598 1 840407 840407 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480408 M 14 1 0 "" NA19240 esv3661347 1 842319 842389 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16484415 M 20 0 0 "" dgv4n166 1 842319 842412 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4517448,nsv4042148 M 10847 0 2 "" nsv3324857 1 844344 844479 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490901,nssv14480547,nssv14477092,nssv14473304,nssv14485385,nssv14475785 M 14 0 6 "" CHM1,CHM13,HG00268,HG00733,HG02106,NA19240 nsv3325979 1 844344 844699 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472437 M 14 0 1 "" HG02059 nsv3324858 1 844414 844504 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474371,nssv14487120 M 14 0 2 "" HG01352,NA19434 esv1562509 1 844600 844866 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3716763 M 2 0 1 "" HuRef nsv3325317 1 844653 845008 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474097 M 14 0 1 "" HG02059 nsv3324859 1 844743 844878 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484250,nssv14476587,nssv14486035,nssv14476006,nssv14479905,nssv14490976,nssv14478540,nssv14487292,nssv14486551,nssv14489973,nssv14479037,nssv14484496 M 14 0 12 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv4044232 1 844900 850000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963031 M 10847 1 0 "" nsv3324861 1 845103 845278 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477387,nssv14472266,nssv14472952 M 14 0 3 "" HG02818,HG04217,NA19434 nsv4048266 1 845521 847491 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853449 M 10847 0 1 "" nsv4462446 1 849315 849316 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025442 M 10847 1 0 "" esv2762302 1 850017 1041700 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 852772 870310 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544894,nsv544896 M 17421 0 2 LOC100130417,SAMD11 nsv544895 1 852772 990280 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 nsv1074403 1 859199 861000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763507 M 1 0 1 "" KWP1 nsv544897 1 860045 870310 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707678,nssv707677 M 17421 1 1 SAMD11 nsv544898 1 860045 879317 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707679 M 17421 1 0 SAMD11 dgv7n54 1 861134 870645 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544900,nsv544899 M 17421 0 5 SAMD11 dgv8n54 1 861134 879317 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544901,nsv544907 M 17421 0 2 SAMD11 dgv9n54 1 861134 888220 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544902,nsv544903 M 17421 0 2 NOC2L,SAMD11 nsv544904 1 864938 870257 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707689,nssv707688 M 17421 2 0 SAMD11 dgv10n54 1 864938 870645 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544906,nsv544905 M 17421 5 7 SAMD11 nsv1074938 1 869099 870500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767822 M 1 0 1 SAMD11 KWP1 nsv1142736 1 869100 870100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994235 M 2 0 1 SAMD11 KWS1 esv3550787 1 869249 870391 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749534 M 767 0 1 SAMD11 nsv511670 1 869251 870860 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626307 M 1 0 1 SAMD11 1 nsv4048580 1 869279 870105 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963806 M 10847 1 0 SAMD11 esv27608 1 869310 870347 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 nsv3325997 1 869340 869927 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476271,nssv14488079,nssv14472419,nssv14473311,nssv14489175,nssv14482830,nssv14490427,nssv14484753 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 nsv3324880 1 869342 869593 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486149,nssv14472476 M 14 0 2 SAMD11 HG01352,NA19240 nsv3325336 1 869346 869457 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486642 M 14 0 1 SAMD11 NA19240 esv989364 1 869415 870347 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586109 M 3 0 1 SAMD11 HuRef dgv11n54 1 869443 870257 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544920,nsv544915,nsv544908,nsv544916,nsv544909 M 17421 0 8 SAMD11 dgv12n54 1 869443 870310 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544917,nsv544910,nsv544911,nsv544922,nsv544927,nsv544921,nsv544926 M 17421 99 267 SAMD11 dgv13n54 1 869443 870645 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544912,nsv544923 M 17421 6 24 SAMD11 dgv14n54 1 869443 873558 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544929,nsv544918,nsv544913 M 17421 4 0 SAMD11 dgv15n54 1 869443 879317 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544925,nsv544914,nsv544933 M 17421 0 17 SAMD11 esv3674431 1 869467 870309 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16496192 M 20 0 0 SAMD11 esv1732269 1 869471 869583 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4110931 M 2 0 1 SAMD11 HuRef nsv3325998 1 869472 869586 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478396 M 14 0 1 SAMD11 NA19434 esv2853903 1 869527 870339 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123470 M 1 0 1 SAMD11 HuRef nsv3325999 1 869535 869535 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490161,nssv14481293,nssv14479228 M 14 3 0 SAMD11 HG00268,HG02059,HG02106 nsv955441 1 869544 870300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000435 M 1 0 1 SAMD11 BILGI_BIOE nsv544919 1 869550 870034 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707996,nssv707970,nssv708076,nssv707985,nssv707973,nssv708067,nssv707864,nssv707961,nssv707840,nssv707845,nssv707854,nssv707836,nssv707909,nssv707851,nssv708066,nssv707877,nssv707848,nssv708046,nssv707972,nssv707849,nssv707850,nssv708075,nssv707852,nssv707980,nssv708052,nssv707917,nssv708047,nssv707921,nssv707913,nssv707853,nssv708053,nssv708065,nssv707977,nssv707922,nssv708054,nssv708015,nssv707841,nssv707926,nssv708022,nssv707999,nssv708063,nssv707863,nssv708039,nssv708084,nssv708083,nssv708018,nssv708009,nssv708057,nssv707976,nssv707855,nssv707974,nssv708059,nssv707991,nssv707862,nssv708062,nssv707837,nssv707856,nssv708056,nssv707998,nssv707858,nssv707923,nssv707857,nssv707861,nssv707925,nssv707924,nssv708058,nssv708061,nssv707859,nssv707860,nssv708026,nssv707868,nssv707978,nssv708021,nssv707997,nssv708041,nssv708051,nssv708032,nssv708001,nssv707846,nssv707964,nssv707931,nssv708068,nssv707958,nssv707847,nssv707957,nssv708000,nssv708074,nssv707975,nssv708042,nssv707876,nssv708025,nssv707967,nssv708035,nssv707865,nssv708085,nssv707839,nssv707866,nssv707916,nssv707867,nssv708040,nssv707927,nssv708031,nssv707990,nssv708086,nssv708072,nssv707932,nssv707838,nssv708019,nssv708005,nssv707911,nssv708008,nssv707930,nssv707915,nssv707912,nssv708033,nssv707989,nssv708087,nssv708073,nssv707874,nssv707910,nssv707869,nssv708071,nssv707870,nssv707875,nssv707979,nssv708070,nssv707928,nssv707872,nssv707929,nssv707871,nssv707873,nssv708028,nssv707882,nssv708044,nssv707823,nssv708007,nssv708082,nssv708088,nssv707817,nssv707880,nssv708064,nssv707933,nssv707842,nssv707844,nssv707908,nssv707893,nssv707993,nssv707878,nssv707879,nssv707881,nssv707905,nssv707987,nssv708037,nssv708080,nssv707968,nssv708010,nssv707971,nssv707962,nssv707956,nssv707920,nssv707914,nssv708017,nssv708024,nssv707883,nssv707886,nssv708016,nssv707822,nssv707988,nssv707981,nssv708078,nssv707819,nssv708027,nssv707818,nssv707906,nssv707885,nssv708014,nssv707963,nssv708043,nssv708055,nssv708030,nssv707982,nssv707969,nssv707884,nssv708077,nssv708036,nssv708050,nssv707892,nssv707888,nssv708069,nssv708023,nssv707821,nssv707887,nssv708079,nssv707960,nssv707992,nssv707937,nssv707936,nssv707891,nssv707889,nssv707934,nssv707935,nssv707890,nssv707820,nssv707834,nssv707995,nssv708034,nssv707835,nssv708002,nssv708011,nssv708048,nssv707904,nssv707965,nssv707959,nssv708029,nssv708006,nssv707902,nssv708045,nssv708081,nssv707919,nssv707983,nssv707824,nssv707825,nssv707939,nssv707940,nssv707955,nssv708060,nssv707938,nssv707843,nssv707899,nssv707966,nssv707900,nssv708089,nssv708004,nssv707829,nssv707828,nssv707827,nssv707894,nssv707942,nssv708092,nssv708091,nssv708090,nssv707943,nssv707895,nssv707896,nssv708093,nssv707826,nssv707898,nssv707897,nssv707941,nssv708094,nssv708020,nssv707901,nssv708049,nssv707830,nssv708038,nssv707994,nssv708003,nssv707945,nssv707944,nssv707986,nssv707918,nssv707954,nssv707832,nssv708013,nssv707907,nssv707833,nssv708012,nssv707831,nssv707947,nssv707984,nssv707946,nssv707952,nssv707950,nssv707948,nssv707949,nssv707903,nssv707953,nssv707951 M 17421 0 278 SAMD11 nsv544924 1 869550 873558 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708370,nssv708369,nssv708372,nssv708371,nssv708368,nssv708373 M 17421 1 5 SAMD11 nsv3326253 1 869556 869556 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479303,nssv14472490 M 14 2 0 SAMD11 CHM1,HG00733 nsv3324881 1 869557 869613 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472424 M 14 0 1 SAMD11 NA19240 esv1062785 1 869596 870324 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4275138 M 2 0 1 SAMD11 HuRef nsv544928 1 869603 870645 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708410 M 17421 1 0 SAMD11 nsv3324882 1 869612 869612 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488245 M 14 1 0 SAMD11 HG00268 nsv3325337 1 869640 869640 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480957,nssv14490079,nssv14487409,nssv14488606,nssv14472724 M 14 5 0 SAMD11 HG00268,HG00733,HG02059,HG02106,NA19434 nsv3324883 1 869738 869738 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489336,nssv14482303,nssv14475157 M 14 3 0 SAMD11 HG00268,HG00733,NA19434 nsv3325338 1 869753 869753 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472958,nssv14486584,nssv14483387,nssv14482847 M 14 4 0 SAMD11 CHM1,HG00268,HG00733,NA19434 nsv544930 1 869809 870310 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708426,nssv708432,nssv708412,nssv708434,nssv708431,nssv708422,nssv708416,nssv708427,nssv708439,nssv708436,nssv708429,nssv708424,nssv708440,nssv708435,nssv708441,nssv708438,nssv708433,nssv708425,nssv708413,nssv708419,nssv708417,nssv708418,nssv708415,nssv708420,nssv708437,nssv708430,nssv708414,nssv708423,nssv708421,nssv708428 M 17421 0 30 SAMD11 dgv16n54 1 869809 870645 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544934,nsv544931 M 17421 0 9 SAMD11 nsv544932 1 869809 873558 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708450 M 17421 0 1 SAMD11 nsv3326000 1 869842 869842 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487372,nssv14478695 M 14 2 0 SAMD11 HG02059,HG02106 nsv3325339 1 869917 869973 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489240,nssv14491883 M 14 0 2 SAMD11 NA19240,NA19434 nsv3325340 1 869934 869934 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482353 M 14 1 0 SAMD11 CHM1 nsv3326001 1 869953 869953 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480069 M 14 1 0 SAMD11 HG00268 nsv3326254 1 869962 870045 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474883,nssv14488989,nssv14491734,nssv14476309,nssv14479142,nssv14478159,nssv14473602,nssv14486881 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 nsv3324884 1 869999 870225 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488928 M 14 0 1 SAMD11 NA19240 nsv3325341 1 870005 870005 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482074 M 14 1 0 SAMD11 HG02059 nsv3324885 1 870070 870070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474230 M 14 1 0 SAMD11 HG00733 nsv3326002 1 870074 870129 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472342,nssv14476900,nssv14475287,nssv14481278,nssv14484235,nssv14475863,nssv14474917,nssv14475468 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 nsv3326003 1 870094 870094 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486336 M 14 1 0 SAMD11 CHM1 nsv3325342 1 870116 870173 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476965 M 14 0 1 SAMD11 HG01352 nsv3325343 1 870117 870117 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486071 M 14 1 0 SAMD11 HG02059 nsv3326004 1 870144 870144 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490668 M 14 1 0 SAMD11 HG02059 nsv3324886 1 870172 870172 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486147 M 14 1 0 SAMD11 HG00733 nsv3325344 1 870173 870173 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473667,nssv14484226,nssv14474269 M 14 3 0 SAMD11 HG00268,HG02059,HX1 nsv3324887 1 870173 870284 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476456,nssv14487335,nssv14472737,nssv14479234,nssv14486061,nssv14486388,nssv14491078,nssv14477087 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 nsv3325345 1 870210 870210 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485077,nssv14474166 M 14 2 0 SAMD11 HG00268,HX1 nsv3326005 1 870236 870236 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488163,nssv14489301,nssv14474812 M 14 3 0 SAMD11 HG00268,HG02059,HX1 nsv3326255 1 870262 870262 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480980,nssv14479623,nssv14480001 M 14 3 0 SAMD11 HG00268,HG02059,HX1 nsv3326006 1 870270 870270 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485877,nssv14476355,nssv14479875 M 14 3 0 SAMD11 CHM1,HG00733,HX1 nsv3326007 1 870318 870318 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476310,nssv14486972 M 14 2 0 SAMD11 HX1,NA19434 nsv3326256 1 870337 870337 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487392 M 14 1 0 SAMD11 HG02059 esv2066434 1 871493 871867 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4643302 M 1 0 1 SAMD11 NA18507 esv3676844 1 871614 871732 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498363 M 20 0 1 SAMD11 nsv3324888 1 871615 871692 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488597 M 14 0 1 SAMD11 HG02059 nsv4040862 1 871657 871769 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852642 M 10847 0 1 SAMD11 nsv3326257 1 871683 871683 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482567 M 14 1 0 SAMD11 NA19240 esv3672038 1 871732 871861 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494038 M 20 0 0 SAMD11 nsv3326008 1 871740 871740 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472093 M 14 1 0 SAMD11 NA19240 nsv4039931 1 872771 874223 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853296 M 10847 0 1 SAMD11 esv3584987 1 873391 874042 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839571,essv9839574,essv9839570,essv9839569,essv9839573,essv9839572,essv9839575 M 2504 0 7 SAMD11 HG00543,HG00632,HG01859,HG01866,NA18544,NA18643,NA19074 esv2663451 1 873417 874049 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5748399,essv5957539,essv5733502,essv6117771 M 1151 0 4 SAMD11 HG00543,NA18544,NA19012,NA19074 nsv4032485 1 873419 874049 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853597 M 10847 0 1 SAMD11 nsv3324893 1 874779 874779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472053 M 14 1 0 SAMD11 NA19434 nsv1013524 1 874890 1097335 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 nsv1160644 1 875032 1156043 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026434 M 369 0 1 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv4036682 1 876254 880033 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963837 M 10847 1 0 NOC2L,SAMD11 nsv1074942 1 877199 878100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763877 M 1 0 1 SAMD11 KWP1 nsv4034043 1 884041 884110 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963845 M 10847 1 0 NOC2L nsv3324895 1 884092 884092 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475558 M 14 1 0 NOC2L HG00268 dgv13e59 1 885189 886187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3428898,esv3364706 M 185 2 0 NOC2L NA19239,NA19240 nsv4040207 1 885804 885889 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854250 M 10847 0 1 NOC2L nsv4033712 1 887554 889394 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854784 M 10847 0 1 NOC2L nsv1074944 1 895399 896600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766571 M 1 0 1 KLHL17 KWP1 nsv4045512 1 895750 902500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966045 M 10847 1 0 KLHL17,PLEKHN1 nsv482036 1 895967 901095 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558397 M 1 1 0 KLHL17 KB1 nsv4032982 1 899125 899200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854320 M 10847 0 1 KLHL17 nsv4516744 1 899791 900200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855123 M 10847 0 1 KLHL17 nsv3325357 1 899976 900089 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477578,nssv14488098,nssv14487216,nssv14486735,nssv14487282,nssv14482773,nssv14477443,nssv14490527,nssv14481186,nssv14475243,nssv14473099 M 14 0 11 KLHL17 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA12878,NA19434 esv1003697 1 900011 900085 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3568238 M 3 0 1 KLHL17 HuRef nsv159315 1 900149 900224 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177893 M 24 KLHL17 nsv4052006 1 901155 904172 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855139 M 10847 0 1 PLEKHN1 nsv4041434 1 903700 905622 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855221 M 10847 0 1 PLEKHN1 esv3451859 1 904489 905387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692422 M 185 1 0 PLEKHN1 NA19239 nsv3324902 1 905339 905393 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491648 M 14 0 1 PLEKHN1 HX1 nsv3325358 1 905466 905519 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477050 M 14 0 1 PLEKHN1 HX1 nsv3326267 1 909556 909660 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475728 M 14 0 1 PLEKHN1 HG02818 esv1001028 1 911055 913734 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565170 M 3 1 0 C1orf170 HuRef esv2670613 1 911645 915192 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6010738,essv6389326,essv5641324,essv6400366,essv5841281,essv6402564,essv5889195,essv6587307,essv5993200,essv6255541,essv5564928,essv6523376,essv5462014,essv6128474,essv5787081,essv6418259,essv5804523,essv6423047,essv5905964,essv6430407,essv5836989,essv6430927,essv5482863,essv6505246,essv5738531,essv6536645,essv5442020,essv6436893,essv5489577,essv6442790,essv5471639,essv6443495,essv5615808,essv6185252,essv5475375,essv6449523,essv5506395,essv6263463,essv5535610,essv6467493,essv5495292,essv6480331,essv5615197,essv6483725,essv5723792,essv6480133,essv5620498,essv6187040,essv5584422,essv6159415,essv6005729,essv6237379,essv5840689,essv6598157,essv5975232,essv6189900,essv5914563,essv6150879,essv5925242,essv6199706,essv5712285,essv6313757,essv5467419,essv6314870,essv5854734,essv6317482,essv5572747,essv6324543,essv5973675,essv6325639,essv5833597,essv6267868,essv5710426,essv6327051,essv5821063,essv6327372,essv5869388,essv6099101,essv5768893,essv6330051,essv5781640,essv6021580,essv5567082,essv6016618,essv5789556,essv6042185,essv5963116,essv6279545,essv5871535,essv6284507,essv5684098,essv6338447,essv5441563,essv6227956,essv5762189,essv6526343,essv5541532,essv6204209,essv5419278,essv6068647,essv5422914,essv6191793,essv5681970,essv6469348,essv5477110,essv6555599,essv5601933,essv6099762,essv5452156,essv6585690,essv5944648,essv6191383,essv5864207,essv6560863,essv5718556,essv6134181,essv5486053,essv6078680,essv5905036,essv6109108,essv5911759,essv6464009,essv5703730,essv6535946,essv5773855,essv6553074,essv5563021,essv6370075,essv5703177,essv6263431,essv5724880,essv6102802,essv5779263,essv6085046,essv5861730,essv6376621,essv5500942,essv6502636,essv5962986,essv6379774,essv5680397,essv6186898,essv5778222,essv6387100,essv5955626,essv6521104 M 1151 0 146 C1orf170 NA18526,NA18530,NA18532,NA18534,NA18535,NA18536,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18557,NA18558,NA18559,NA18560,NA18561,NA18563,NA18565,NA18566,NA18567,NA18570,NA18573,NA18574,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18606,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18999,NA19000,NA19003,NA19004,NA19005,NA19007,NA19009,NA19012,NA19054,NA19055,NA19056,NA19058,NA19059,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088 nsv4038561 1 911800 918000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966054 M 10847 1 0 C1orf170 nsv1073996 1 911899 913600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764727 M 1 0 1 C1orf170 KWP1 dgv7n106 1 911900 913700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121738,nsv1142737 M 2 0 2 C1orf170 KWS1,KWS2 nsv3326268 1 912089 912089 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473848 M 14 1 0 C1orf170 CHM13 nsv3325359 1 912089 912248 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487402,nssv14474541,nssv14489011,nssv14475627 M 14 0 4 C1orf170 HG02818,HX1,NA12878,NA19240 nsv3326269 1 912255 912255 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480087,nssv14484288,nssv14473326 M 14 3 0 C1orf170 CHM13,HG00733,NA19434 esv1165796 1 912278 913308 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4038215 M 2 0 1 C1orf170 HuRef nsv3326270 1 912320 912320 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477403 M 14 1 0 C1orf170 CHM13 nsv3324904 1 912414 912476 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472764 M 14 0 1 C1orf170 HG02818 nsv3326019 1 912432 912432 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483517 M 14 1 0 C1orf170 CHM13 nsv3326271 1 912464 912464 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488780 M 14 1 0 C1orf170 CHM13 nsv3326020 1 912499 912499 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490438 M 14 1 0 C1orf170 HG02106 nsv3324905 1 912559 912559 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491075 M 14 1 0 C1orf170 CHM13 nsv3326021 1 912591 912591 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473111,nssv14477143 M 14 2 0 C1orf170 HG00514,HG02106 nsv3326022 1 912623 912623 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487845 M 14 1 0 C1orf170 CHM13 nsv3326023 1 912625 912686 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483668,nssv14476935,nssv14476502,nssv14477499 M 14 0 4 C1orf170 HG02059,HG02818,NA12878,NA19240 nsv3324906 1 912715 912715 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474383,nssv14474620 M 14 2 0 C1orf170 CHM1,CHM13 nsv3326272 1 912754 912754 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484111,nssv14491763,nssv14473891,nssv14480433 M 14 4 0 C1orf170 CHM1,CHM13,HG00268,HG00514 nsv3325360 1 912779 912779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490898,nssv14485619,nssv14473625,nssv14491223 M 14 4 0 C1orf170 CHM1,HG00268,HG00514,HG02106 nsv3325361 1 912818 912818 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482931,nssv14486818,nssv14489027,nssv14486250 M 14 4 0 C1orf170 CHM1,HG00268,HG00514,HG02106 nsv3325362 1 912875 912875 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476731,nssv14485881,nssv14488995 M 14 3 0 C1orf170 CHM1,HG00268,HG00514 nsv3326273 1 912907 912907 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473773,nssv14483938,nssv14484230 M 14 3 0 C1orf170 CHM13,HG00268,HG00514 nsv3325363 1 913003 913003 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475111,nssv14478772,nssv14490702 M 14 3 0 C1orf170 CHM1,HG02818,NA19240 nsv3324907 1 913098 913098 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474507,nssv14481462 M 14 2 0 C1orf170 CHM1,HG00268 nsv3325364 1 913107 913107 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476010,nssv14475308 M 14 2 0 C1orf170 HG02106,NA19240 nsv4036810 1 913112 913322 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966079 M 10847 1 0 C1orf170 nsv3324908 1 913135 913191 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484417 M 14 0 1 C1orf170 HX1 nsv3324909 1 913190 913190 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478900 M 14 1 0 C1orf170 HG01352 nsv3326276 1 913258 913378 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476447,nssv14491355 M 14 0 2 C1orf170 HG02059,NA12878 nsv3326277 1 913286 913286 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478617,nssv14489130 M 14 2 0 C1orf170 HG00514,HG01352 nsv3325365 1 913319 913380 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490847,nssv14479180 M 14 0 2 C1orf170 HG02818,NA12878 nsv4032969 1 913951 984184 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966089 M 10847 1 0 AGRN,C1orf170,HES4,ISG15 nsv4537682 1 914210 914211 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024295 M 10847 1 0 C1orf170 nsv4039163 1 915224 915360 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855526 M 10847 0 1 C1orf170 nsv4038463 1 916956 917023 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855607 M 10847 0 1 C1orf170 nsv4568713 1 918618 918619 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026079 M 10847 1 0 "" nsv4533748 1 919998 919999 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024988 M 10847 1 0 "" nsv4046486 1 922000 927000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856046 M 10847 0 1 "" esv997839 1 928681 930764 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565560 M 3 0 1 "" HuRef nsv159328 1 931665 931730 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177906 M 24 "" nsv3326286 1 931729 931729 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485900 M 14 1 0 "" HG01352 nsv3326027 1 931731 931731 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480772,nssv14481337,nssv14490549,nssv14484191,nssv14491085,nssv14488977,nssv14484335,nssv14473724,nssv14485120 M 14 9 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,NA12878,NA19240 esv1776849 1 931780 931780 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3713900 M 2 1 0 "" HuRef nsv3326028 1 931936 931936 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476203,nssv14472656 M 14 2 0 "" HG00268,NA19434 nsv159419 1 931981 932111 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177997 M 24 "" nsv3326029 1 932072 932072 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474472,nssv14474471,nssv14482221,nssv14487176,nssv14491062 M 14 5 0 "" HG00268,HG00514,HG01352,HX1,NA19434 nsv3326287 1 932109 932109 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478219,nssv14484436,nssv14491793,nssv14476896 M 14 4 0 "" HG00268,HG00514,HX1,NA19434 nsv3326288 1 932137 932137 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479718 M 14 1 0 "" HG00733 nsv3324919 1 932185 932185 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484450 M 14 1 0 "" HG01352 nsv3325371 1 932207 932207 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491418 M 14 1 0 "" HG01352 nsv827252 1 934105 936507 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436318 M 31 1 0 HES4 NA18542 nsv3326291 1 934143 934143 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477972,nssv14490612,nssv14481688,nssv14477794 M 14 4 0 "" CHM13,HG00733,HG02059,HG02106 nsv4034076 1 935849 969448 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966107 M 10847 1 0 AGRN,ISG15 esv3688838 1 937795 937795 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473031 M 20 1 0 "" nsv945741 1 942574 1027999 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749378,nssv1749412,nssv1749365,nssv1749417,nssv1749379,nssv1749390,nssv1749364,nssv1749430,nssv1749377,nssv1749424,nssv1749452,nssv1749463,nssv1749389,nssv1749400,nssv1749367,nssv1749443,nssv1749393,nssv1749408,nssv1749368,nssv1749431,nssv1749451,nssv1749401,nssv1749387,nssv1749426,nssv1749376,nssv1749433,nssv1749453,nssv1749406,nssv1749385,nssv1749418,nssv1749448,nssv1749396,nssv1749384,nssv1749437,nssv1749380,nssv1749410,nssv1749458,nssv1749466,nssv1749455,nssv1749420,nssv1749374,nssv1749460,nssv1749370,nssv1749421,nssv1749456,nssv1749464,nssv1749369,nssv1749459,nssv1749371,nssv1749391,nssv1749366,nssv1749411,nssv1749457,nssv1749439,nssv1749373,nssv1749399,nssv1749454,nssv1749444,nssv1749382,nssv1749467,nssv1749381,nssv1749465,nssv1749397,nssv1749392,nssv1749386,nssv1749423,nssv1749395,nssv1749469,nssv1749447,nssv1749441,nssv1749375,nssv1749440,nssv1749415,nssv1749428,nssv1749414,nssv1749446,nssv1749445,nssv1749409,nssv1749363,nssv1749436,nssv1749435,nssv1749468,nssv1749425,nssv1749404,nssv1749422,nssv1749398,nssv1749429,nssv1749403,nssv1749434,nssv1749413,nssv1749432,nssv1749462,nssv1749388,nssv1749442,nssv1749402,nssv1749419,nssv1749407 M 97 10 0 AGRN,C1orf159,ISG15,RNF223 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv828363 1 944680 948776 CNV gain+loss Park_et_al_2010 20364138 Oligo aCGH nssv1436320,nssv1434856 M 31 1 1 "" NA18542,NA18942 nsv509146 1 945890 1046568 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 nsv4051037 1 946425 947714 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854095 M 10847 0 1 "" esv3584988 1 947113 948003 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839577,essv9839576,essv9839578,essv9839579 M 2504 0 4 "" HG02546,NA19307,NA19338,NA19401 nsv4043441 1 947121 947905 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856163 M 10847 0 1 "" esv2665646 1 947121 948001 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5634163,essv6062495,essv6082937 M 1151 0 3 "" NA19338,NA19359,NA19401 dgv17n54 1 949608 964438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544936,nsv544935 M 17421 0 2 AGRN,ISG15 dgv8n106 1 952312 952450 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1130265,nsv1129865 M 2 0 1 "" KWS2 nsv4035122 1 952328 952441 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854556 M 10847 0 1 "" nsv1067927 1 953124 953320 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762276 M 1 0 1 "" KWP1 nsv1137715 1 953161 953319 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982097,nssv3990216 M 2 0 2 "" KWS1,KWS2 nsv1142738 1 954800 956400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994237 M 2 0 1 AGRN KWS1 nsv1160772 1 962965 1268847 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026545 M 369 1 0 ACAP3,AGRN,B3GALT6,C1orf159,CPSF3L,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv29017 1 963659 964480 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19930 M 40 0 6 AGRN NA11931,NA12044,NA12414,NA12749,NA12776,NA19240 esv987912 1 963820 964480 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586137 M 3 0 1 AGRN HuRef esv3584989 1 963826 974172 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839601,essv9839583,essv9839600,essv9839582,essv9839581,essv9839580,essv9839585,essv9839584,essv9839590,essv9839599,essv9839586,essv9839589,essv9839588,essv9839587,essv9839598,essv9839593,essv9839592,essv9839591,essv9839594,essv9839597,essv9839596,essv9839595,essv9839606,essv9839615,essv9839605,essv9839604,essv9839603,essv9839602,essv9839614,essv9839609,essv9839608,essv9839607,essv9839613,essv9839610,essv9839612,essv9839611,essv9839617,essv9839616,essv9839621,essv9839618,essv9839620,essv9839619 M 2504 42 0 AGRN HG00130,HG00350,HG01277,HG01344,HG01625,HG01626,HG01628,HG01630,HG01985,HG02013,HG02089,HG02134,HG02140,HG02277,HG02285,HG02484,HG02508,HG03224,NA12815,NA12872,NA12874,NA18525,NA18639,NA18640,NA18645,NA18747,NA18749,NA18939,NA18946,NA18957,NA18993,NA19031,NA19149,NA19189,NA19431,NA19438,NA19700,NA19734,NA19922,NA20757,NA21109,NA21113 esv4415 1 963838 964567 CNV loss Wang_et_al_2008 18987735 Sequencing essv26856 M 1 0 1 AGRN YH nsv3319236 1 963850 964459 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482701,nssv14482028,nssv14485948 M 14 0 3 AGRN HG00733,HX1,NA19240 nsv4516696 1 963856 964461 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852976 M 10847 0 1 AGRN nsv544937 1 963864 967588 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708455 M 17421 0 1 AGRN dgv18n54 1 963864 973767 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544943,nsv544939,nsv544938,nsv544942 M 17421 0 15 AGRN dgv19n54 1 963864 980460 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544944,nsv544940 M 17421 0 2 AGRN esv2674475 1 963871 964481 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6510320,essv5840741,essv6460718,essv5448884,essv6474371,essv5987847,essv6401814,essv5734294,essv6177663,essv6117995,essv6584245,essv5729992,essv6493518,essv5771704,essv6412237,essv6029294,essv6412469,essv5915311,essv6183968,essv5793300,essv6243124,essv5666985,essv6498080,essv5994815,essv6204902,essv5519265,essv6418029,essv5766055,essv6158394,essv5993590,essv6424714,essv5763678,essv6425065,essv5700942,essv6427750,essv5929362,essv6432453,essv5509723,essv6434262,essv6105732,essv6445789,essv5466613,essv6462535,essv5464919,essv6450578,essv6070502,essv6452440,essv6043080,essv6269485,essv5462103,essv6453590,essv5512746,essv6535245,essv5980381,essv6461709,essv5613816,essv6293236,essv5916857,essv6192230,essv5789270,essv6261205,essv5596252,essv6241223,essv5741053,essv6261633,essv5533171,essv6573154,essv5491037,essv6154985,essv5987883,essv6152898,essv5770283,essv6211448,essv5722499,essv6198018,essv6016807,essv6147838,essv6048979,essv6286261,essv5601728,essv6301862,essv5885429,essv6510454,essv6071729,essv6572780,essv5674953,essv6239917,essv5680961,essv6579614,essv5765836,essv6320707,essv5586667,essv6275093,essv6001928,essv6197707,essv5620395,essv6325568,essv5717079,essv6332345,essv6085598,essv6215092,essv5515175,essv6336428,essv5964725,essv6337876,essv5821062,essv6338714,essv6123918,essv6229256,essv5978321,essv6339703,essv5629256,essv6596508,essv5803925,essv6212079,essv6027655,essv6178153,essv5750218,essv6482402,essv5607932,essv6479044,essv5912544,essv6347242,essv6054853,essv6150676,essv5607185,essv6349109,essv5597778,essv6197367,essv5775808,essv6221043,essv5589591,essv6175781,essv5614201,essv6461713,essv5977948,essv6352021,essv6054536,essv6504358,essv5824591,essv6283772,essv5543982,essv6467904,essv5615962,essv6362474,essv5992380,essv6471857,essv5929634,essv6273537,essv5759307,essv6512480,essv5397305,essv6368059,essv5574524,essv6168761,essv6018657,essv6463649,essv5443079,essv6371427,essv5657075,essv6559100,essv5809115,essv6168477,essv5438152,essv6379238,essv5441289,essv6262010,essv6067524,essv6386003,essv5515257,essv6510298,essv6031648,essv5870935,essv5718506,essv5795116,essv5885638,essv5493240,essv5758458,essv6022508,essv5942233,essv5578565,essv6051709,essv5655999,essv5853566,essv6000145,essv6069837,essv5456064,essv5460067,essv5484641,essv5525377,essv5870748,essv5600714,essv5958628,essv5694805,essv6030509,essv5579307,essv5714107,essv5829646,essv5782186,essv5819196,essv5819882,essv5552270,essv6096713,essv5700798,essv5544079,essv6032236,essv5534660,essv5672078,essv5670392,essv6019519 M 1151 0 210 AGRN HG00108,HG00116,HG00123,HG00124,HG00125,HG00136,HG00137,HG00138,HG00140,HG00146,HG00151,HG00159,HG00160,HG00173,HG00180,HG00185,HG00187,HG00231,HG00237,HG00242,HG00245,HG00246,HG00247,HG00250,HG00251,HG00252,HG00253,HG00268,HG00273,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00306,HG00310,HG00311,HG00319,HG00323,HG00325,HG00326,HG00327,HG00328,HG00342,HG00345,HG00353,HG00357,HG00361,HG00366,HG00367,HG00375,HG00419,HG00443,HG00449,HG00463,HG00500,HG00534,HG00537,HG00554,HG00565,HG00581,HG00590,HG00607,HG00608,HG00614,HG00640,HG00641,HG00654,HG00693,HG00699,HG00702,HG00708,HG00731,HG00732,HG00734,HG00736,HG00740,HG01047,HG01048,HG01052,HG01061,HG01070,HG01082,HG01124,HG01133,HG01134,HG01148,HG01197,HG01250,HG01334,HG01350,HG01353,HG01354,HG01359,HG01365,HG01366,HG01374,HG01375,HG01389,HG01390,HG01437,HG01456,HG01461,HG01489,HG01518,HG01522,HG01551,NA06984,NA06986,NA06989,NA11830,NA11919,NA11994,NA11995,NA12283,NA12342,NA12348,NA12546,NA12718,NA12763,NA12777,NA12842,NA18530,NA18536,NA18542,NA18545,NA18549,NA18557,NA18565,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18582,NA18592,NA18610,NA18611,NA18613,NA18616,NA18619,NA18632,NA18856,NA18861,NA18912,NA18947,NA18950,NA18980,NA18987,NA18989,NA18999,NA19003,NA19055,NA19057,NA19075,NA19076,NA19077,NA19078,NA19082,NA19084,NA19197,NA19316,NA19327,NA19347,NA19355,NA19371,NA19375,NA19439,NA19445,NA19451,NA19453,NA19462,NA19463,NA19471,NA19473,NA19648,NA19676,NA19703,NA19707,NA19722,NA19723,NA19780,NA19834,NA19904,NA19982,NA20276,NA20291,NA20346,NA20508,NA20510,NA20513,NA20516,NA20517,NA20525,NA20530,NA20531,NA20532,NA20539,NA20582,NA20585,NA20752,NA20756,NA20766,NA20778,NA20783,NA20796,NA20799,NA20808 dgv20n54 1 963966 964438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544945,nsv544941,nsv544946 M 17421 0 31 AGRN esv2853792 1 964014 964502 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123359 M 1 0 1 AGRN HuRef nsv4043403 1 964500 978000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966124 M 10847 1 0 AGRN esv6517 1 964760 965579 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28958 M 1 0 0 AGRN esv3649228 1 964794 964794 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473508 M 20 1 0 AGRN esv3561092 1 964980 965379 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759839 M 767 0 1 AGRN nsv1137176 1 965047 965362 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975866 M 2 0 1 AGRN KWS1 nsv3319672 1 965052 965207 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481299 M 14 0 1 AGRN HX1 nsv3319027 1 965055 965055 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484104,nssv14486046 M 14 2 0 AGRN HG00733,HX1 nsv1125446 1 965057 965567 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983619 M 2 1 0 AGRN KWS2 dgv14e59 1 965089 966987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3385140,esv3441341 M 185 2 0 AGRN NA19239,NA19240 nsv3319455 1 965231 965231 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481632,nssv14491293,nssv14484022 M 14 3 0 AGRN HG00733,HG04217,HX1 nsv3319028 1 965323 965323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490582,nssv14490462 M 14 2 0 AGRN HG00733,HX1 nsv1073573 1 965347 965510 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766181 M 1 0 1 AGRN KWP1 nsv3319456 1 965367 965367 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491598 M 14 1 0 AGRN HG00733 nsv3319029 1 965401 965401 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472833 M 14 1 0 AGRN HX1 esv1064309 1 965995 965995 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3670093 M 2 1 0 AGRN HuRef esv3678359 1 966027 966394 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499727 M 20 0 1 AGRN nsv4050518 1 968626 969619 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855648 M 10847 0 1 AGRN nsv1073577 1 968899 969400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767229 M 1 0 1 AGRN KWP1 nsv1143425 1 976300 976700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980622 M 2 0 1 AGRN KWS1 nsv4042200 1 982598 1083046 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966150 M 10847 1 0 AGRN,C1orf159,LOC254099,RNF223 nsv4041858 1 984420 984513 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854657 M 10847 0 1 AGRN nsv3319477 1 984431 984431 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488986 M 14 1 0 AGRN CHM1 nsv3319048 1 984466 984466 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475321,nssv14474786 M 14 2 0 AGRN CHM1,HG01352 nsv1074422 1 988571 988623 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767579 M 1 0 1 AGRN KWP1 esv3562203 1 988572 988623 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760950 M 767 0 1 AGRN nsv3319256 1 988573 988623 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486932 M 14 0 1 AGRN HG01352 nsv829425 1 991422 993857 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434857 M 31 0 1 AGRN NA18942 nsv1133120 1 991818 991894 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987937 M 2 1 0 "" KWS1 nsv4047109 1 995604 995737 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966160 M 10847 1 0 "" nsv4563326 1 996336 996337 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025019 M 10847 1 0 "" nsv1074423 1 1000099 1000900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771025 M 1 0 1 "" KWP1 nsv4047279 1 1000213 1000958 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855270 M 10847 0 1 "" nsv3319059 1 1000229 1000288 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476063 M 14 0 1 "" NA19434 nsv3319060 1 1000376 1000437 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476723,nssv14482464 M 14 0 2 "" HG01352,HG04217 nsv1003578 1 1003629 1218086 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 esv3650502 1 1004127 1004127 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474655 M 20 1 0 "" esv3651094 1 1004204 1004204 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475189 M 20 1 0 "" nsv3319487 1 1004205 1004205 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491106,nssv14476278,nssv14472139,nssv14479666,nssv14478456,nssv14473974,nssv14491114,nssv14488598,nssv14474059,nssv14490259,nssv14491806,nssv14487989 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19434 nsv544947 1 1005806 1242084 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 1005806 1314015 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 1011188 1014828 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 1011248 1014683 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586245 M 3 1 0 "" HuRef dgv21n54 1 1011278 1014403 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544948,nsv544949 M 17421 0 2 "" nsv3319266 1 1011303 1012770 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478910 M 14 0 1 "" HG00514 nsv3319711 1 1011581 1011640 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490212,nssv14487299,nssv14474451,nssv14488832 M 14 0 4 "" CHM1,HG01352,HG02106,HG02818 nsv1126165 1 1011700 1012400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984392 M 2 0 1 "" KWS1 nsv3319064 1 1011701 1011878 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481497,nssv14479219,nssv14475605,nssv14476520,nssv14482919,nssv14480632,nssv14486348,nssv14490176 M 14 0 8 "" CHM1,CHM13,HG00268,HG00514,HG02106,HG02818,NA12878,NA19240 nsv3319065 1 1011906 1012145 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472441,nssv14488234,nssv14489110,nssv14476890,nssv14488187,nssv14488505,nssv14490380,nssv14474632,nssv14488325,nssv14484942 M 14 0 10 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02818,HG04217,NA12878,NA19240,NA19434 nsv3319489 1 1012186 1012186 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472955 M 14 1 0 "" CHM1 nsv3319267 1 1012244 1012244 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481674 M 14 1 0 "" HG02106 nsv3319712 1 1012260 1012260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491339 M 14 1 0 "" CHM1 nsv3319066 1 1012321 1012321 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472069 M 14 1 0 "" CHM1 nsv4034501 1 1012408 1013584 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780779,nssv15780780,nssv15780783,nssv15780782,nssv15780781 M 10847 0 0 "" nsv3319490 1 1012484 1012543 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480385,nssv14488424,nssv14476850,nssv14479101 M 14 0 4 "" CHM1,HG02106,HG02818,NA19240 nsv3319068 1 1012622 1012622 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474595 M 14 1 0 "" CHM1 nsv3319713 1 1012647 1012706 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486831 M 14 0 1 "" HG02818 nsv3319268 1 1012680 1012680 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484097 M 14 1 0 "" CHM1 nsv544950 1 1012680 1014625 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708508,nssv708507 M 17421 0 2 "" nsv3319491 1 1012698 1012817 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481343,nssv14490651,nssv14475372,nssv14473016,nssv14485968,nssv14484068,nssv14485699 M 14 0 7 "" CHM13,HG00268,HG01352,HG02106,HG02818,NA12878,NA19240 nsv1143426 1 1012700 1014000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980623 M 2 0 1 "" KWS1 nsv3319492 1 1012860 1013849 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482501,nssv14490652,nssv14481601,nssv14489512,nssv14472813,nssv14474569 M 14 0 6 "" CHM13,HG00268,HG00514,HG01352,HG02106,HG02818 nsv3319069 1 1012903 1012962 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490822,nssv14476317 M 14 0 2 "" HG00514,HG00733 nsv3319269 1 1012950 1013009 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482075 M 14 0 1 "" HG02818 nsv3319493 1 1012982 1012982 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473105 M 14 1 0 "" HG00733 nsv3319070 1 1013069 1013069 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472532 M 14 1 0 "" HG00733 nsv3319270 1 1013101 1013190 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475704 M 14 0 1 "" HG00733 nsv3319714 1 1013147 1013357 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488507,nssv14475876,nssv14487823 M 14 0 3 "" HG00268,HG02818,NA19434 nsv3319271 1 1013206 1013206 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487710,nssv14478255,nssv14480141 M 14 3 0 "" CHM1,HG00514,HG02059 nsv3319715 1 1013339 1013339 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479808 M 14 1 0 "" CHM1 nsv3319494 1 1013356 1013356 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478080 M 14 1 0 "" HG00514 nsv3319716 1 1013429 1013429 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491849 M 14 1 0 "" NA19434 nsv3319272 1 1013459 1013459 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489364 M 14 1 0 "" CHM1 nsv3319717 1 1013582 1013582 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477906 M 14 1 0 "" HG02106 nsv3319273 1 1013616 1013616 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477679,nssv14476581 M 14 2 0 "" CHM1,HG00268 nsv3319718 1 1013700 1013700 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479854,nssv14490258,nssv14474053 M 14 3 0 "" CHM1,HG00268,HG04217 nsv3319496 1 1013790 1013790 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485356,nssv14486389,nssv14477891 M 14 3 0 "" HG00268,HG02818,NA19434 nsv3319497 1 1013820 1013820 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483529,nssv14473728,nssv14480428 M 14 3 0 "" HG00268,HG02818,NA19434 nsv3319719 1 1013822 1013822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481129 M 14 1 0 "" HG02106 nsv3319274 1 1013910 1013910 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476329,nssv14474332 M 14 2 0 "" HG02106,NA19434 nsv3319275 1 1013970 1013970 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489543,nssv14480672 M 14 2 0 "" HG02818,NA19434 nsv3319720 1 1013971 1013971 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491884 M 14 1 0 "" CHM1 nsv3319071 1 1014062 1014331 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485576,nssv14484505 M 14 0 2 "" HG00268,HG02106 nsv3319276 1 1014150 1014150 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479744 M 14 1 0 "" HG00514 nsv3319277 1 1014182 1014241 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477822 M 14 0 1 "" CHM13 nsv3319072 1 1014215 1014215 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476889 M 14 1 0 "" HG00514 nsv3319278 1 1014359 1014689 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481272 M 14 0 1 "" HG02818 nsv3319279 1 1014542 1014691 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479215,nssv14482217,nssv14485706 M 14 0 3 "" HG00268,HG02106,HG02818 nsv3319722 1 1014605 1014605 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478966 M 14 1 0 "" HG00514 nsv3319073 1 1014739 1014739 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482132 M 14 1 0 "" HG00514 nsv3319723 1 1014763 1015185 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478918 M 14 0 1 "" HG02818 nsv3319503 1 1016030 1016157 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491127,nssv14486542,nssv14482934,nssv14475764,nssv14487559,nssv14477410,nssv14489354 M 14 0 7 "" HG00268,HG00733,HG02059,HG02818,HG04217,NA19240,NA19434 nsv4517276 1 1020257 1026368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854407 M 10847 0 1 C1orf159 nsv1409 1 1030851 1060065 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4677 M 9 1 0 C1orf159 NA19129 dgv15e59 1 1034289 1035387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3352473,esv3385108 M 185 2 0 C1orf159 NA19238,NA19240 esv1010559 1 1034408 1035203 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586664 M 3 1 0 C1orf159 HuRef esv23529 1 1034408 1035203 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 1034431 1035132 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708510,nssv708513,nssv708509,nssv708512,nssv708511 M 17421 5 0 C1orf159 nsv4516548 1 1034436 1035236 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965459 M 10847 1 0 C1orf159 nsv3319520 1 1034537 1034537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475596 M 14 1 0 C1orf159 HG00268 nsv4039453 1 1034545 1034891 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854502 M 10847 0 1 C1orf159 esv3679533 1 1034569 1034727 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500784 M 20 0 1 C1orf159 nsv3319089 1 1034583 1034583 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484591,nssv14489843,nssv14478462,nssv14484275,nssv14481112 M 14 5 0 C1orf159 HG00268,HG00733,HG02059,HG02818,NA19434 nsv4045432 1 1034650 1035090 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854964 M 10847 0 1 C1orf159 nsv1146879 1 1034891 1034941 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998243 M 1 1 0 C1orf159 KWB1 nsv3319292 1 1034900 1034900 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490480,nssv14489717,nssv14485765,nssv14480280,nssv14474771 M 14 5 0 C1orf159 HG00268,HG00733,HG02059,HG02818,NA19434 esv1281251 1 1035015 1035015 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4028372 M 2 1 0 C1orf159 HuRef nsv3319522 1 1035016 1035016 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490817,nssv14484771,nssv14472218,nssv14484162,nssv14475718 M 14 5 0 C1orf159 HG00268,HG00733,HG02059,HG02818,NA19434 nsv3319091 1 1035028 1035028 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473243 M 14 1 0 C1orf159 HG02059 nsv1137716 1 1035031 1035110 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990217 M 2 0 1 C1orf159 KWS2 nsv3319092 1 1035051 1035051 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490643 M 14 1 0 C1orf159 HG02059 nsv3319293 1 1035164 1035164 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490611 M 14 1 0 C1orf159 HG02059 nsv1119654 1 1041111 1069313 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982098 M 2 0 1 C1orf159 KWS1 nsv950452 1 1042301 1572900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997159 M 1 0 1 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf233,CCNL2,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MMP23A,MMP23B,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,SSU72,TAS1R3,TMEM240,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 BILGI_BIOE esv3679947 1 1043520 1044289 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501157 M 20 0 1 C1orf159 nsv4050988 1 1044006 1044519 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855056 M 10847 0 1 C1orf159 nsv3319295 1 1044018 1044078 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475977,nssv14482741,nssv14479523 M 14 0 3 C1orf159 HG00733,HG02059,NA19434 nsv3319296 1 1044044 1044044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474138,nssv14478762 M 14 2 0 C1orf159 HG00733,HG02818 nsv3319098 1 1044169 1044231 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483683 M 14 0 1 C1orf159 HG02059 nsv3319746 1 1044207 1044299 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491055,nssv14473772 M 14 0 2 C1orf159 HG00733,HG02818 nsv160439 1 1044215 1044525 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179017 M 24 C1orf159 nsv3319099 1 1044320 1044320 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489884,nssv14485240,nssv14474104 M 14 3 0 C1orf159 HG00733,HG02059,NA19434 nsv4532759 1 1045946 1045947 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025670 M 10847 1 0 C1orf159 nsv1126166 1 1050900 1052800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984393 M 2 0 1 C1orf159 KWS1 nsv3319750 1 1050935 1050935 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476113 M 14 1 0 C1orf159 HG02818 nsv3319302 1 1051035 1051035 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481845 M 14 1 0 C1orf159 HG02818 esv32594 1 1051688 1051826 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv92767,essv96399 M 51 0 2 C1orf159 21944,22371 nsv3319754 1 1058891 1058970 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483998 M 14 0 1 "" HG02818 esv3565536 1 1058898 1058978 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764283 M 767 0 1 "" nsv4041412 1 1058913 1058963 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856197 M 10847 0 1 "" nsv160193 1 1058914 1058993 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178771 M 24 "" nsv4038210 1 1064914 1074314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856281 M 10847 0 1 LOC254099 esv3429749 1 1069832 1070259 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652034 M 185 1 0 "" NA19240 nsv4517461 1 1069854 1070235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856665 M 10847 0 1 "" nsv4033451 1 1069929 1070053 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856285 M 10847 0 1 "" nsv4033439 1 1069951 1070742 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965854 M 10847 1 0 "" nsv1129451 1 1070128 1070186 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962904 M 2 1 0 "" KWS1 nsv3319548 1 1070129 1070129 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480587 M 14 1 0 "" NA19240 nsv3319760 1 1070176 1070176 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472406 M 14 1 0 "" NA19240 nsv3319319 1 1070206 1070206 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479197,nssv14486529 M 14 2 0 "" HG01352,NA19434 nsv4050282 1 1070219 1070734 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856750 M 10847 0 1 "" esv2630187 1 1073076 1076966 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5357752 M 1 0 1 LOC254099 NA18507 esv26506 1 1074379 1076117 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 nsv3319118 1 1074463 1074581 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487745,nssv14489396 M 14 0 2 LOC254099 HG00268,HG02106 nsv544953 1 1074524 1075878 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708515 M 17421 0 1 LOC254099 dgv22n54 1 1074524 1075980 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544955,nsv544952 M 17421 2 0 LOC254099 nsv544954 1 1074624 1121794 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708516 M 17421 0 1 LOC254099,MIR200A,MIR200B,MIR429,TTLL10 nsv3319321 1 1074645 1074828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476878,nssv14477844,nssv14482742,nssv14491385,nssv14479313 M 14 0 5 LOC254099 HG01352,HG02059,HG02106,NA19240,NA19434 nsv3319322 1 1074755 1074755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475123 M 14 1 0 LOC254099 HG02818 nsv3319762 1 1074777 1074777 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485031 M 14 1 0 LOC254099 HG02818 nsv3319550 1 1074813 1074813 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484074,nssv14473499 M 14 2 0 LOC254099 HG01352,HG02106 nsv3319323 1 1074874 1074874 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473106,nssv14482497 M 14 2 0 LOC254099 HG02106,HG02818 nsv3319119 1 1074935 1075422 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480738 M 14 0 1 LOC254099 HG00514 nsv3319324 1 1074951 1074951 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486338 M 14 1 0 LOC254099 HG02818 nsv3319325 1 1075021 1075081 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480165,nssv14489314 M 14 0 2 LOC254099 CHM1,HG00268 nsv3319120 1 1075038 1075038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474588 M 14 1 0 LOC254099 NA19240 nsv3319763 1 1075073 1075133 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480357 M 14 0 1 LOC254099 NA19434 nsv3319551 1 1075170 1075170 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483814 M 14 1 0 LOC254099 HG02818 nsv3319552 1 1075182 1075242 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483933,nssv14479896 M 14 0 2 LOC254099 HG02818,HX1 nsv3319326 1 1075182 1075365 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491824,nssv14487703,nssv14475549,nssv14480278,nssv14473876,nssv14474849,nssv14480544,nssv14483236 M 14 0 8 LOC254099 HG00268,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19434 nsv3319764 1 1075204 1075569 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481181,nssv14483212,nssv14479143,nssv14490991,nssv14476272 M 14 0 5 LOC254099 CHM1,HG01352,HG02106,HG04217,NA12878 nsv3319121 1 1075221 1075221 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485969 M 14 1 0 LOC254099 NA19434 nsv3319327 1 1075221 1075281 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479355,nssv14481227,nssv14474602 M 14 0 3 LOC254099 HG00268,HG02106,HX1 nsv3319765 1 1075304 1075304 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488024,nssv14485689 M 14 2 0 LOC254099 HG02818,NA19434 nsv3319766 1 1075343 1075343 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484214 M 14 1 0 LOC254099 HG02106 nsv3319328 1 1075422 1075422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478104 M 14 1 0 LOC254099 NA19240 nsv3319329 1 1075500 1075621 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490985,nssv14488575,nssv14477365,nssv14476739,nssv14489606,nssv14483849,nssv14488975 M 14 0 7 LOC254099 HG00514,HG01352,HG02059,HG02106,HG02818,NA12878,NA19240 nsv3319553 1 1075682 1075682 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489071,nssv14472496 M 14 2 0 LOC254099 HG00268,HX1 nsv3319554 1 1075744 1075744 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477892 M 14 1 0 LOC254099 HX1 nsv3319330 1 1075792 1075852 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483805,nssv14476193,nssv14483806,nssv14478327,nssv14491395 M 14 0 5 LOC254099 CHM1,HG01352,HG02106,NA19240,NA19434 nsv3319331 1 1075873 1075934 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485588 M 14 0 1 LOC254099 NA19434 nsv161017 1 1075907 1076089 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179595 M 24 LOC254099 nsv3319332 1 1075914 1076035 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486593,nssv14479576,nssv14488877,nssv14491079,nssv14484201,nssv14492018,nssv14486052 M 14 0 7 LOC254099 HG00514,HG01352,HG02059,HG02106,HG04217,NA12878,NA19434 nsv3319122 1 1075974 1075974 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479192 M 14 1 0 LOC254099 NA19240 nsv3319333 1 1075975 1075975 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478840 M 14 1 0 LOC254099 NA19434 nsv3319334 1 1076036 1076036 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483049,nssv14480958 M 14 2 0 LOC254099 HG00268,HX1 nsv3319335 1 1076044 1076044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477272 M 14 1 0 LOC254099 HG02818 nsv1126167 1 1076300 1077000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984394 M 2 0 1 LOC254099 KWS1 nsv1074960 1 1076399 1077000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768187 M 1 0 1 LOC254099 KWP1 nsv4517561 1 1076526 1078686 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963858 M 10847 1 0 LOC254099 nsv3319555 1 1076753 1076753 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479202,nssv14478618 M 14 2 0 LOC254099 HG00268,HG04217 nsv3319768 1 1076816 1076816 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481639,nssv14489264,nssv14488937,nssv14477233 M 14 4 0 LOC254099 CHM1,HG00514,HG04217,NA12878 nsv3319769 1 1076841 1076841 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487162 M 14 1 0 LOC254099 HG00514 esv3652880 1 1077490 1077490 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476796 M 20 1 0 LOC254099 nsv4045929 1 1079812 1079871 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856829 M 10847 0 1 "" nsv4041168 1 1080809 1080911 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856914 M 10847 0 1 "" nsv469848 1 1081462 1257615 CNV gain Locke_et_al_2006 16826518 BAC aCGH nssv1675926,nssv1672244,nssv1672307,nssv1675327,nssv1673518,nssv1674115,nssv1675455,nssv1675619,nssv1672854,nssv1675776,nssv1675676,nssv1674008,nssv1673798,nssv1676561,nssv1675739,nssv1674135,nssv1672738,nssv1674359,nssv1674154,nssv1672366,nssv1674068,nssv1676085,nssv1676084,nssv1672390,nssv1674285,nssv1672249,nssv1672626,nssv1673131,nssv1672094,nssv1675837,nssv1676397,nssv1672396,nssv1673139,nssv1672102,nssv1676113,nssv1676489,nssv1675128,nssv1673413,nssv1674236,nssv1673733,nssv1674296,nssv1673267,nssv1676596,nssv1674548,nssv1672467,nssv1674019,nssv1673022,nssv1674168,nssv1675375,nssv1673850,nssv1672602,nssv1675092,nssv1674020,nssv1675314,nssv1673400,nssv1673566,nssv1676663,nssv1675446 M 265 58 0 ACAP3,B3GALT6,CPSF3L,FAM132A,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,PUSL1,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv2661109 1 1082524 1082740 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5709461,essv6421375,essv5505211,essv5914448,essv5486707,essv6472005,essv5558210,essv6109554,essv5439413,essv6174128,essv5752766,essv5909645,essv5620762,essv6113329,essv5855617,essv6539385,essv6312301 M 1151 0 17 "" NA18499,NA18501,NA18502,NA18909,NA19099,NA19257,NA19360,NA19381,NA19382,NA19397,NA19403,NA19428,NA19439,NA19457,NA19704,NA19819,NA19920 nsv3319770 1 1082526 1082741 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474278 M 14 0 1 "" HG02818 esv3684907 1 1082681 1082791 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16469493 M 20 0 0 "" esv2524046 1 1083767 1088804 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5287439 M 1 0 1 "" NA18507 esv3681063 1 1084309 1084400 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502161 M 20 0 1 "" nsv3319771 1 1084445 1084445 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481102 M 14 1 0 "" NA19434 nsv4048889 1 1084772 1095417 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857383 M 10847 0 1 "" esv2587289 1 1084823 1090940 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5220272 M 1 0 1 "" NA18507 nsv3319562 1 1084988 1085069 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477971 M 14 0 1 "" NA19434 nsv4033051 1 1085317 1090008 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857144 M 10847 0 1 "" esv2317109 1 1086650 1087181 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4717325 M 1 0 1 "" NA18507 nsv3319772 1 1086815 1087023 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480507,nssv14489372 M 14 0 2 "" HG01352,HG02818 esv2658760 1 1086817 1087023 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5758836,essv6397614,essv5623466,essv6213083,essv5547316,essv6120409,essv5541179,essv6096407,essv5436201,essv6073157,essv5524307,essv5802239,essv5562204,essv6530899,essv5594183,essv6191112,essv5641794,essv6285851,essv5458632,essv6034389,essv5721563,essv6552168,essv5459848,essv6441748,essv5511013,essv5789536,essv5681798,essv5956005,essv5636104,essv5930632,essv5551811,essv6005063,essv5752437,essv6112738,essv5747770,essv5898145,essv5543990,essv5850006,essv5605063,essv6154341,essv5458106,essv6312211,essv5726655,essv5991720,essv5706693,essv6031457,essv5667785,essv5832949,essv5437205,essv6246174,essv5474265,essv6322689,essv5556663,essv6079984,essv6593567,essv6205532,essv6584683,essv6330566,essv6590372,essv5964072,essv6580572,essv5990107,essv6108284,essv5979653,essv6472528,essv6109219,essv6185848,essv5950181,essv5967220,essv6352878,essv6500540,essv5957822,essv6175521,essv6151097,essv6170234,essv6218597,essv6362912,essv6364011,essv6558511,essv6056921,essv6504951,essv6549704,essv5787568,essv6046705 M 1151 0 84 "" HG01098,HG01108,HG01171,HG01350,HG01360,HG01462,HG01497,NA11918,NA11992,NA18486,NA18488,NA18498,NA18501,NA18502,NA18504,NA18507,NA18520,NA18522,NA18853,NA18858,NA18861,NA18867,NA18907,NA18908,NA18909,NA18917,NA18933,NA19092,NA19093,NA19099,NA19116,NA19138,NA19144,NA19153,NA19172,NA19190,NA19198,NA19223,NA19225,NA19247,NA19248,NA19313,NA19315,NA19317,NA19319,NA19321,NA19328,NA19347,NA19359,NA19372,NA19373,NA19375,NA19376,NA19377,NA19379,NA19381,NA19382,NA19384,NA19385,NA19390,NA19393,NA19394,NA19397,NA19399,NA19403,NA19443,NA19453,NA19466,NA19474,NA19704,NA19716,NA19758,NA19818,NA19819,NA19835,NA19900,NA19920,NA20278,NA20294,NA20296,NA20299,NA20322,NA20332,NA20336 nsv4039757 1 1086821 1087034 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857241 M 10847 0 1 "" nsv509257 1 1087335 1124850 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619760 M 4 1 0 MIR200A,MIR200B,MIR429,TTLL10 NA10860 nsv3319775 1 1088006 1088006 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485622 M 14 1 0 "" HG02818 nsv4040362 1 1088338 1088670 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963866 M 10847 1 0 "" nsv3319126 1 1088584 1088713 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472641,nssv14473287 M 14 0 2 "" HG01352,NA19434 nsv4037219 1 1091074 1157488 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855910 M 10847 0 1 MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv4048369 1 1091710 1091802 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857476 M 10847 0 1 "" nsv4049265 1 1099595 1100141 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857558 M 10847 0 1 "" nsv4044119 1 1103344 1103459 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857653 M 10847 0 1 "" nsv4041740 1 1103957 1104534 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847105 M 10847 0 1 MIR429 nsv544956 1 1106473 1176597 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708518 M 17421 0 1 B3GALT6,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv4035112 1 1107835 1109304 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847184 M 10847 0 1 TTLL10 esv3681493 1 1111383 1111467 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502548 M 20 0 1 TTLL10 nsv3319787 1 1111470 1111470 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14490764,nssv14472756,nssv14478977 M 14 3 0 TTLL10 HG00268,HG01352,NA19434 nsv3319134 1 1111551 1111551 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481810 M 14 1 0 TTLL10 NA19434 nsv3319571 1 1111575 1111575 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14490669 M 14 1 0 TTLL10 NA19434 nsv3319135 1 1111633 1111633 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481505 M 14 1 0 TTLL10 HG01352 nsv3319788 1 1111709 1111709 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480205 M 14 1 0 TTLL10 NA19434 nsv829536 1 1112147 1113089 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436321 M 31 1 0 TTLL10 NA18542 nsv4051847 1 1116193 1116364 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846777 M 10847 0 1 TTLL10 esv3335892 1 1119989 1120387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691755 M 185 1 0 TTLL10 NA19238 nsv3319349 1 1120036 1120036 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472094,nssv14490279,nssv14478306,nssv14474343,nssv14480351,nssv14472177 M 14 6 0 TTLL10 HG00268,HG02106,HG02818,HX1,NA19240,NA19434 nsv3319139 1 1120036 1120251 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487984 M 14 0 1 TTLL10 CHM13 nsv3319140 1 1120070 1120070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482591,nssv14479029,nssv14487591,nssv14482124,nssv14482518,nssv14482853,nssv14488524 M 14 7 0 TTLL10 HG00268,HG00514,HG00733,HG02106,HG02818,HX1,NA19434 nsv3319579 1 1120128 1120128 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485299 M 14 1 0 TTLL10 NA19240 nsv3319141 1 1120173 1120173 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490289 M 14 1 0 TTLL10 NA19434 nsv3319350 1 1120308 1120308 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472144,nssv14481140,nssv14481424,nssv14488227,nssv14484908,nssv14485777,nssv14474726 M 14 7 0 TTLL10 HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1 nsv3319792 1 1120343 1120343 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481030 M 14 1 0 TTLL10 NA19434 nsv3319793 1 1120359 1120359 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475389,nssv14475974,nssv14488054,nssv14483657,nssv14487478 M 14 5 0 TTLL10 HG00514,HG01352,HG02059,HG02106,HX1 nsv4458520 1 1121321 1121322 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024107 M 10847 1 0 TTLL10 nsv1110655 1 1127783 1127852 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3960310 M 2 1 0 TTLL10 KWS1 nsv3319795 1 1127977 1127977 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474808,nssv14480039,nssv14490333,nssv14482574,nssv14475224,nssv14490106,nssv14483627,nssv14473242,nssv14490105 M 14 9 0 TTLL10 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA19240,NA19434 nsv3319796 1 1128010 1128010 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481171,nssv14473137,nssv14475452,nssv14488167,nssv14481769,nssv14479908,nssv14486249,nssv14483059,nssv14488885 M 14 9 0 TTLL10 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA19240,NA19434 nsv3319351 1 1128136 1128136 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476730,nssv14485355 M 14 2 0 TTLL10 HG02818,NA19434 nsv3319797 1 1128195 1128195 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14484543 M 14 1 0 TTLL10 HG01352 nsv3319799 1 1131365 1131365 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487121,nssv14472801,nssv14472138 M 14 3 0 TTLL10 HG00514,HG02059,HX1 esv3655436 1 1133272 1133272 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479097 M 20 1 0 TTLL10 esv24081 1 1137003 1138283 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14081 M 40 8 0 "" NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19147,NA19190 nsv544957 1 1137126 1137653 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708519 M 17421 0 1 "" nsv3319801 1 1137159 1137159 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474048 M 14 1 0 "" NA19434 esv3341957 1 1137189 1137987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691757 M 185 1 0 "" NA19239 nsv3319584 1 1137311 1137311 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479235 M 14 1 0 "" HG00268 nsv3319585 1 1137422 1137422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480424 M 14 1 0 "" HG02818 dgv23n54 1 1137440 1138111 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544959,nsv544958 M 17421 2 0 "" nsv3319802 1 1137460 1137460 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484602 M 14 1 0 "" NA19434 nsv3319354 1 1137572 1137572 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476750,nssv14472814,nssv14472362 M 14 3 0 "" HG00268,HG01352,HG02059 esv3682305 1 1137581 1137943 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16503280 M 20 0 1 "" nsv3319804 1 1137665 1137665 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476381,nssv14482127 M 14 2 0 "" HG01352,HX1 nsv3319805 1 1137703 1137703 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483989,nssv14488007 M 14 2 0 "" HG02818,NA19434 nsv3319586 1 1137798 1137798 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485063,nssv14488574,nssv14478379,nssv14474753,nssv14478944,nssv14483037 M 14 6 0 "" HG00268,HG02059,HG02106,HG02818,NA19240,NA19434 nsv3319587 1 1137800 1137800 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473233 M 14 1 0 "" HG01352 nsv3319355 1 1137821 1137821 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479864,nssv14490962,nssv14487171 M 14 3 0 "" HG00268,HG00514,HG02059 nsv3319146 1 1137897 1137897 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479547 M 14 1 0 "" NA19434 nsv3319356 1 1137911 1137911 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484048,nssv14490588,nssv14489251,nssv14481629,nssv14477218,nssv14473450 M 14 6 0 "" HG00268,HG00514,HG02059,HG02106,HG02818,NA19434 nsv3319147 1 1137983 1137983 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481074,nssv14486303,nssv14472570,nssv14474033,nssv14476417,nssv14490061 M 14 6 0 "" HG00268,HG00514,HG02059,HG02106,HG02818,NA19434 esv3651026 1 1138008 1138127 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16475127 M 20 0 0 "" nsv544960 1 1139416 1142862 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708522 M 17421 0 1 TNFRSF18 dgv24n54 1 1140435 1148895 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544962,nsv544961 M 17421 0 2 TNFRSF18,TNFRSF4 nsv544963 1 1142325 1149661 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708525 M 17421 0 1 TNFRSF4 esv9332 1 1142503 1143267 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31773 M 1 0 0 "" esv3566647 1 1142700 1143161 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765394 M 767 0 1 "" esv3584990 1 1142714 1143140 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840333,essv9840332,essv9840334,essv9840335,essv9839671,essv9840337,essv9840331,essv9840340,essv9840339,essv9840336,essv9840338,essv9839670,essv9839669,essv9839668,essv9839667,essv9839666,essv9839632,essv9839665,essv9839631,essv9839622,essv9839625,essv9839630,essv9839624,essv9839623,essv9839629,essv9839626,essv9839628,essv9839627,essv9839647,essv9839638,essv9839664,essv9839637,essv9839634,essv9839633,essv9839636,essv9839635,essv9839641,essv9839646,essv9839640,essv9839639,essv9839642,essv9839645,essv9839644,essv9839643,essv9839649,essv9839663,essv9839654,essv9839648,essv9839653,essv9839650,essv9839652,essv9839651,essv9839655,essv9839657,essv9839662,essv9839656,essv9839658,essv9839661,essv9839660,essv9839659,essv9839912,essv9840328,essv9839783,essv9840343,essv9840346,essv9839718,essv9840345,essv9840344,essv9840170,essv9839961,essv9839685,essv9840342,essv9840329,essv9840341,essv9839678,essv9839683,essv9839684,essv9839677,essv9839673,essv9839672,essv9839676,essv9839674,essv9839675,essv9840330,essv9839682,essv9839679,essv9839681,essv9839680,essv9839691,essv9839717,essv9839700,essv9839687,essv9839690,essv9839686,essv9839689,essv9839688,essv9839694,essv9839699,essv9839693,essv9839692,essv9839698,essv9839695,essv9839697,essv9839696,essv9839707,essv9839702,essv9839716,essv9839701,essv9839706,essv9839703,essv9839705,essv9839704,essv9839710,essv9839715,essv9839709,essv9839708,essv9839714,essv9839711,essv9839713,essv9839712,essv9839723,essv9839782,essv9839732,essv9839749,essv9839722,essv9839721,essv9839720,essv9839719,essv9839726,essv9839731,essv9839725,essv9839724,essv9839730,essv9839727,essv9839729,essv9839728,essv9839734,essv9839748,essv9839739,essv9839733,essv9839738,essv9839735,essv9839737,essv9839736,essv9839742,essv9839747,essv9839741,essv9839740,essv9839746,essv9839743,essv9839745,essv9839744,essv9839764,essv9839755,essv9839781,essv9839754,essv9839751,essv9839750,essv9839753,essv9839752,essv9839758,essv9839763,essv9839757,essv9839756,essv9839759,essv9839762,essv9839761,essv9839760,essv9839780,essv9839771,essv9839766,essv9839765,essv9839770,essv9839767,essv9839769,essv9839768,essv9839774,essv9839779,essv9839773,essv9839772,essv9839775,essv9839778,essv9839777,essv9839776,essv9839796,essv9839787,essv9839813,essv9839846,essv9839911,essv9839786,essv9839785,essv9839784,essv9839795,essv9839790,essv9839788,essv9839789,essv9839791,essv9839794,essv9839793,essv9839792,essv9839798,essv9839812,essv9839803,essv9839797,essv9839802,essv9839799,essv9839801,essv9839800,essv9839811,essv9839806,essv9839805,essv9839804,essv9839807,essv9839810,essv9839809,essv9839808,essv9839828,essv9839819,essv9839845,essv9839815,essv9839818,essv9839814,essv9839817,essv9839816,essv9839827,essv9839822,essv9839821,essv9839820,essv9839823,essv9839826,essv9839825,essv9839824,essv9839835,essv9839830,essv9839829,essv9839844,essv9839834,essv9839831,essv9839833,essv9839832,essv9839843,essv9839838,essv9839837,essv9839836,essv9839839,essv9839842,essv9839841,essv9839840,essv9839851,essv9839860,essv9839910,essv9839877,essv9839850,essv9839847,essv9839849,essv9839848,essv9839859,essv9839854,essv9839853,essv9839852,essv9839858,essv9839855,essv9839857,essv9839856,essv9839876,essv9839867,essv9839862,essv9839861,essv9839863,essv9839866,essv9839865,essv9839864,essv9839870,essv9839875,essv9839869,essv9839868,essv9839871,essv9839874,essv9839873,essv9839872,essv9839883,essv9839880,essv9839892,essv9839879,essv9839878,essv9839909,essv9839882,essv9839881,essv9839886,essv9839891,essv9839885,essv9839884,essv9839887,essv9839890,essv9839889,essv9839888,essv9839899,essv9839894,essv9839893,essv9839908,essv9839898,essv9839895,essv9839897,essv9839896,essv9839900,essv9839907,essv9839902,essv9839901,essv9839903,essv9839906,essv9839905,essv9839904,essv9839960,essv9839959,essv9840040,essv9839975,essv9840169,essv9839915,essv9839913,essv9839958,essv9839938,essv9839921,essv9839914,essv9839920,essv9839916,essv9839919,essv9839918,essv9839917,essv9839937,essv9839928,essv9839923,essv9839922,essv9839927,essv9839924,essv9839926,essv9839925,essv9839936,essv9839931,essv9839930,essv9839929,essv9839932,essv9839935,essv9839934,essv9839933,essv9839943,essv9839957,essv9839952,essv9839974,essv9839939,essv9839942,essv9839941,essv9839940,essv9839946,essv9839951,essv9839945,essv9839944,essv9839947,essv9839950,essv9839949,essv9839948,essv9839956,essv9839973,essv9839964,essv9839955,essv9839963,essv9839954,essv9839953,essv9839962,essv9839967,essv9839972,essv9839966,essv9839965,essv9839968,essv9839971,essv9839970,essv9839969,essv9840006,essv9839989,essv9839980,essv9840039,essv9839979,essv9839978,essv9839977,essv9839976,essv9839983,essv9839988,essv9839982,essv9839981,essv9839987,essv9839984,essv9839986,essv9839985,essv9839991,essv9839996,essv9840005,essv9839990,essv9839992,essv9839995,essv9839994,essv9839993,essv9839999,essv9840004,essv9839998,essv9839997,essv9840003,essv9840000,essv9840002,essv9840001,essv9840012,essv9840021,essv9840038,essv9840011,essv9840007,essv9840008,essv9840010,essv9840009,essv9840015,essv9840020,essv9840014,essv9840013,essv9840016,essv9840019,essv9840018,essv9840017,essv9840023,essv9840037,essv9840028,essv9840022,essv9840027,essv9840024,essv9840026,essv9840025,essv9840031,essv9840036,essv9840030,essv9840029,essv9840032,essv9840035,essv9840034,essv9840033,essv9840168,essv9840053,essv9840042,essv9840070,essv9840103,essv9840041,essv9840052,essv9840044,essv9840047,essv9840043,essv9840046,essv9840045,essv9840048,essv9840051,essv9840050,essv9840049,essv9840055,essv9840060,essv9840054,essv9840069,essv9840059,essv9840056,essv9840058,essv9840057,essv9840063,essv9840068,essv9840062,essv9840061,essv9840064,essv9840067,essv9840066,essv9840065,essv9840076,essv9840085,essv9840102,essv9840075,essv9840071,essv9840072,essv9840074,essv9840073,essv9840079,essv9840084,essv9840078,essv9840077,essv9840080,essv9840083,essv9840082,essv9840081,essv9840092,essv9840087,essv9840101,essv9840086,essv9840091,essv9840088,essv9840090,essv9840089,essv9840095,essv9840100,essv9840094,essv9840093,essv9840096,essv9840099,essv9840098,essv9840097,essv9840117,essv9840108,essv9840167,essv9840134,essv9840104,essv9840107,essv9840106,essv9840105,essv9840111,essv9840116,essv9840110,essv9840109,essv9840115,essv9840112,essv9840114,essv9840113,essv9840124,essv9840119,essv9840118,essv9840133,essv9840123,essv9840120,essv9840122,essv9840121,essv9840127,essv9840132,essv9840125,essv9840126,essv9840131,essv9840128,essv9840130,essv9840129,essv9840140,essv9840135,essv9840149,essv9840166,essv9840139,essv9840136,essv9840138,essv9840137,essv9840143,essv9840148,essv9840142,essv9840141,essv9840144,essv9840147,essv9840146,essv9840145,essv9840165,essv9840156,essv9840151,essv9840150,essv9840155,essv9840152,essv9840154,essv9840153,essv9840157,essv9840159,essv9840164,essv9840158,essv9840163,essv9840160,essv9840162,essv9840161,essv9840326,essv9840228,essv9840293,essv9840195,essv9840178,essv9840347,essv9840327,essv9840177,essv9840176,essv9840173,essv9840444,essv9840172,essv9840171,essv9840175,essv9840174,essv9840180,essv9840185,essv9840179,essv9840194,essv9840181,essv9840184,essv9840183,essv9840182,essv9840188,essv9840193,essv9840187,essv9840186,essv9840192,essv9840189,essv9840191,essv9840190,essv9840196,essv9840201,essv9840227,essv9840210,essv9840197,essv9840200,essv9840199,essv9840198,essv9840209,essv9840204,essv9840203,essv9840202,essv9840205,essv9840208,essv9840207,essv9840206,essv9840212,essv9840217,essv9840211,essv9840226,essv9840213,essv9840216,essv9840215,essv9840214,essv9840220,essv9840225,essv9840218,essv9840219,essv9840221,essv9840224,essv9840223,essv9840222,essv9840292,essv9840242,essv9840230,essv9840233,essv9840229,essv9840232,essv9840231,essv9840259,essv9840241,essv9840236,essv9840235,essv9840234,essv9840240,essv9840237,essv9840239,essv9840238,essv9840243,essv9840258,essv9840244,essv9840249,essv9840248,essv9840245,essv9840247,essv9840246,essv9840252,essv9840257,essv9840251,essv9840250,essv9840253,essv9840256,essv9840255,essv9840254,essv9840274,essv9840265,essv9840261,essv9840260,essv9840291,essv9840264,essv9840263,essv9840262,essv9840266,essv9840273,essv9840268,essv9840267,essv9840269,essv9840272,essv9840270,essv9840271,essv9840276,essv9840290,essv9840281,essv9840275,essv9840280,essv9840277,essv9840279,essv9840278,essv9840289,essv9840284,essv9840282,essv9840283,essv9840288,essv9840286,essv9840285,essv9840287,essv9840324,essv9840321,essv9840325,essv9840378,essv9840443,essv9840304,essv9840303,essv9840294,essv9840298,essv9840295,essv9840297,essv9840296,essv9840299,essv9840302,essv9840301,essv9840300,essv9840311,essv9840306,essv9840320,essv9840305,essv9840307,essv9840310,essv9840309,essv9840308,essv9840314,essv9840319,essv9840312,essv9840313,essv9840318,essv9840315,essv9840316,essv9840317,essv9840351,essv9840322,essv9840348,essv9840323,essv9840360,essv9840377,essv9840350,essv9840349,essv9840354,essv9840359,essv9840353,essv9840352,essv9840358,essv9840355,essv9840357,essv9840356,essv9840367,essv9840363,essv9840376,essv9840362,essv9840361,essv9840366,essv9840364,essv9840365,essv9840375,essv9840370,essv9840368,essv9840369,essv9840371,essv9840374,essv9840373,essv9840372,essv9840409,essv9840383,essv9840392,essv9840442,essv9840382,essv9840381,essv9840380,essv9840379,essv9840386,essv9840384,essv9840391,essv9840385,essv9840390,essv9840387,essv9840389,essv9840388,essv9840394,essv9840399,essv9840408,essv9840393,essv9840398,essv9840395,essv9840397,essv9840396,essv9840400,essv9840402,essv9840407,essv9840401,essv9840403,essv9840406,essv9840405,essv9840404,essv9840410,essv9840441,essv9840415,essv9840424,essv9840411,essv9840414,essv9840413,essv9840412,essv9840418,essv9840423,essv9840417,essv9840416,essv9840422,essv9840419,essv9840421,essv9840420,essv9840431,essv9840426,essv9840440,essv9840425,essv9840430,essv9840427,essv9840429,essv9840428,essv9840434,essv9840432,essv9840439,essv9840433,essv9840435,essv9840438,essv9840437,essv9840436,essv9840473,essv9840447,essv9840456,essv9840446,essv9840506,essv9840445,essv9840449,essv9840448,essv9840451,essv9840455,essv9840450,essv9840454,essv9840453,essv9840452,essv9840458,essv9840472,essv9840457,essv9840463,essv9840462,essv9840459,essv9840461,essv9840460,essv9840471,essv9840466,essv9840465,essv9840464,essv9840470,essv9840467,essv9840469,essv9840468,essv9840474,essv9840479,essv9840488,essv9840505,essv9840475,essv9840478,essv9840477,essv9840476,essv9840482,essv9840487,essv9840481,essv9840480,essv9840486,essv9840483,essv9840485,essv9840484,essv9840495,essv9840490,essv9840489,essv9840504,essv9840494,essv9840491,essv9840493,essv9840492,essv9840498,essv9840503,essv9840497,essv9840496,essv9840499,essv9840502,essv9840501,essv9840500,essv9840520,essv9840511,essv9840510,essv9840507,essv9840537,essv9840509,essv9840508,essv9840514,essv9840519,essv9840513,essv9840512,essv9840518,essv9840515,essv9840517,essv9840516,essv9840522,essv9840527,essv9840536,essv9840521,essv9840526,essv9840523,essv9840525,essv9840524,essv9840528,essv9840530,essv9840529,essv9840535,essv9840531,essv9840534,essv9840533,essv9840532,essv9840538,essv9840539,essv9840540 M 2504 0 919 "" HG00111,HG00115,HG00116,HG00118,HG00120,HG00128,HG00130,HG00136,HG00141,HG00143,HG00151,HG00154,HG00158,HG00179,HG00182,HG00190,HG00234,HG00236,HG00246,HG00250,HG00253,HG00258,HG00262,HG00264,HG00266,HG00267,HG00269,HG00275,HG00290,HG00306,HG00313,HG00315,HG00318,HG00328,HG00335,HG00338,HG00346,HG00353,HG00358,HG00362,HG00364,HG00366,HG00373,HG00384,HG00403,HG00404,HG00407,HG00409,HG00410,HG00419,HG00421,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00445,HG00446,HG00448,HG00451,HG00452,HG00457,HG00458,HG00463,HG00464,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00551,HG00556,HG00557,HG00559,HG00560,HG00566,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00599,HG00608,HG00610,HG00611,HG00613,HG00619,HG00620,HG00622,HG00623,HG00626,HG00628,HG00629,HG00631,HG00632,HG00634,HG00650,HG00651,HG00653,HG00662,HG00671,HG00672,HG00674,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00707,HG00708,HG00717,HG00728,HG00729,HG00740,HG00759,HG00766,HG00844,HG00851,HG00864,HG00879,HG00881,HG00956,HG00978,HG00982,HG01028,HG01029,HG01031,HG01047,HG01048,HG01054,HG01055,HG01058,HG01063,HG01064,HG01066,HG01069,HG01070,HG01079,HG01080,HG01083,HG01086,HG01104,HG01110,HG01111,HG01122,HG01124,HG01125,HG01136,HG01139,HG01148,HG01167,HG01171,HG01174,HG01176,HG01177,HG01182,HG01187,HG01191,HG01200,HG01204,HG01205,HG01247,HG01250,HG01251,HG01253,HG01254,HG01257,HG01259,HG01260,HG01272,HG01275,HG01277,HG01302,HG01305,HG01311,HG01341,HG01348,HG01351,HG01354,HG01356,HG01357,HG01359,HG01362,HG01369,HG01377,HG01378,HG01393,HG01402,HG01405,HG01413,HG01432,HG01435,HG01437,HG01440,HG01444,HG01447,HG01456,HG01459,HG01462,HG01464,HG01488,HG01489,HG01491,HG01492,HG01494,HG01495,HG01497,HG01519,HG01528,HG01536,HG01550,HG01556,HG01571,HG01572,HG01578,HG01597,HG01598,HG01599,HG01600,HG01603,HG01605,HG01612,HG01613,HG01686,HG01700,HG01702,HG01705,HG01710,HG01757,HG01761,HG01768,HG01770,HG01773,HG01786,HG01794,HG01795,HG01796,HG01797,HG01798,HG01799,HG01801,HG01802,HG01804,HG01806,HG01807,HG01808,HG01809,HG01810,HG01811,HG01812,HG01813,HG01815,HG01817,HG01840,HG01841,HG01843,HG01844,HG01845,HG01847,HG01848,HG01849,HG01850,HG01851,HG01852,HG01853,HG01855,HG01857,HG01858,HG01860,HG01861,HG01862,HG01863,HG01864,HG01865,HG01866,HG01867,HG01868,HG01869,HG01870,HG01871,HG01872,HG01873,HG01874,HG01878,HG01879,HG01892,HG01893,HG01917,HG01918,HG01920,HG01921,HG01923,HG01924,HG01926,HG01927,HG01935,HG01938,HG01939,HG01941,HG01942,HG01944,HG01945,HG01947,HG01948,HG01950,HG01951,HG01953,HG01961,HG01967,HG01968,HG01970,HG01971,HG01973,HG01974,HG01977,HG01979,HG01980,HG01982,HG01991,HG01992,HG01997,HG02002,HG02003,HG02008,HG02016,HG02017,HG02023,HG02025,HG02026,HG02029,HG02031,HG02032,HG02035,HG02040,HG02047,HG02048,HG02050,HG02057,HG02058,HG02060,HG02061,HG02064,HG02069,HG02070,HG02072,HG02073,HG02075,HG02076,HG02078,HG02079,HG02081,HG02082,HG02084,HG02085,HG02086,HG02087,HG02088,HG02102,HG02104,HG02105,HG02113,HG02116,HG02121,HG02122,HG02133,HG02136,HG02139,HG02141,HG02142,HG02146,HG02147,HG02150,HG02151,HG02152,HG02153,HG02154,HG02155,HG02156,HG02164,HG02165,HG02166,HG02178,HG02179,HG02180,HG02181,HG02182,HG02184,HG02186,HG02187,HG02188,HG02190,HG02215,HG02223,HG02232,HG02238,HG02250,HG02252,HG02259,HG02262,HG02265,HG02266,HG02271,HG02272,HG02274,HG02275,HG02277,HG02278,HG02283,HG02286,HG02291,HG02292,HG02298,HG02299,HG02301,HG02304,HG02312,HG02348,HG02351,HG02353,HG02355,HG02356,HG02360,HG02364,HG02367,HG02371,HG02373,HG02375,HG02379,HG02380,HG02382,HG02383,HG02384,HG02385,HG02386,HG02389,HG02390,HG02391,HG02392,HG02395,HG02396,HG02397,HG02398,HG02399,HG02401,HG02402,HG02406,HG02407,HG02409,HG02410,HG02420,HG02425,HG02429,HG02450,HG02470,HG02479,HG02490,HG02491,HG02494,HG02502,HG02512,HG02513,HG02521,HG02522,HG02603,HG02649,HG02654,HG02661,HG02682,HG02685,HG02690,HG02696,HG02699,HG02727,HG02728,HG02734,HG02783,HG02790,HG03007,HG03009,HG03012,HG03019,HG03096,HG03235,HG03437,HG03490,HG03557,HG03589,HG03593,HG03598,HG03600,HG03604,HG03607,HG03619,HG03624,HG03625,HG03629,HG03631,HG03634,HG03640,HG03644,HG03645,HG03646,HG03663,HG03681,HG03686,HG03689,HG03690,HG03692,HG03695,HG03696,HG03698,HG03703,HG03706,HG03708,HG03711,HG03716,HG03718,HG03729,HG03733,HG03738,HG03743,HG03745,HG03755,HG03757,HG03762,HG03767,HG03773,HG03778,HG03784,HG03785,HG03789,HG03793,HG03796,HG03800,HG03802,HG03803,HG03805,HG03808,HG03812,HG03814,HG03815,HG03826,HG03832,HG03838,HG03844,HG03851,HG03858,HG03862,HG03864,HG03866,HG03873,HG03874,HG03886,HG03890,HG03895,HG03899,HG03911,HG03913,HG03916,HG03928,HG03931,HG03940,HG03943,HG03949,HG03955,HG03960,HG03965,HG03967,HG03969,HG03973,HG03976,HG03977,HG03985,HG03989,HG03998,HG03999,HG04001,HG04017,HG04020,HG04026,HG04029,HG04033,HG04047,HG04061,HG04062,HG04063,HG04076,HG04090,HG04094,HG04099,HG04131,HG04144,HG04152,HG04153,HG04156,HG04158,HG04161,HG04162,HG04164,HG04189,HG04194,HG04200,HG04202,HG04206,HG04209,HG04222,HG04225,HG04235,NA06985,NA06994,NA07048,NA07056,NA11843,NA11894,NA11918,NA12005,NA12043,NA12144,NA12155,NA12249,NA12273,NA12283,NA12286,NA12341,NA12383,NA12413,NA12718,NA12749,NA12760,NA12828,NA12829,NA12830,NA12874,NA12889,NA18525,NA18526,NA18528,NA18530,NA18531,NA18533,NA18534,NA18536,NA18537,NA18538,NA18539,NA18541,NA18543,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18560,NA18566,NA18571,NA18573,NA18577,NA18579,NA18582,NA18591,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18625,NA18627,NA18628,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18638,NA18639,NA18641,NA18642,NA18643,NA18644,NA18646,NA18647,NA18648,NA18740,NA18747,NA18748,NA18749,NA18757,NA18874,NA18910,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18946,NA18947,NA18949,NA18950,NA18951,NA18953,NA18954,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA18991,NA18992,NA18993,NA18994,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19004,NA19005,NA19006,NA19009,NA19010,NA19011,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19063,NA19064,NA19065,NA19066,NA19067,NA19070,NA19072,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19091,NA19443,NA19649,NA19652,NA19654,NA19655,NA19657,NA19658,NA19663,NA19664,NA19676,NA19679,NA19681,NA19682,NA19684,NA19719,NA19722,NA19728,NA19731,NA19732,NA19734,NA19735,NA19741,NA19746,NA19747,NA19749,NA19750,NA19755,NA19758,NA19759,NA19762,NA19764,NA19770,NA19773,NA19776,NA19780,NA19785,NA19788,NA19789,NA19794,NA19900,NA20127,NA20278,NA20299,NA20314,NA20317,NA20318,NA20412,NA20507,NA20510,NA20518,NA20529,NA20582,NA20585,NA20589,NA20767,NA20770,NA20783,NA20786,NA20792,NA20795,NA20796,NA20798,NA20804,NA20807,NA20809,NA20812,NA20818,NA20819,NA20822,NA20832,NA20847,NA20852,NA20854,NA20864,NA20866,NA20867,NA20869,NA20870,NA20872,NA20881,NA20887,NA20890,NA20892,NA20895,NA20897,NA20899,NA20904,NA20908,NA20911,NA21088,NA21089,NA21097,NA21098,NA21102,NA21105,NA21110,NA21111,NA21114,NA21119,NA21128,NA21130,NA21133,NA21141 nsv1069687 1 1142718 1143140 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766358 M 1 0 1 "" KWP1 dgv9n106 1 1142719 1143140 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1134959,nsv1121063 M 2 0 1 "" KWS2 esv2673981 1 1142719 1143140 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6381288,essv6114438,essv6386945,essv5746960,essv6390017,essv5999100,essv6392240,essv5812347,essv6151804,essv5748924,essv6241074,essv5509795,essv6498297,essv5711626,essv6396639,essv5874172,essv6396964,essv5910221,essv6400391,essv5836591,essv6118569,essv5490777,essv6480469,essv5938197,essv6286183,essv5615034,essv6406899,essv5883227,essv6409217,essv5471503,essv6414527,essv5796220,essv6414667,essv5545854,essv6414705,essv5420730,essv6488935,essv5618107,essv6420303,essv5398394,essv6177899,essv5795930,essv6226006,essv5577522,essv6560586,essv5740683,essv6424641,essv5910672,essv6426568,essv5817051,essv6428860,essv5757575,essv6217750,essv5471121,essv6174159,essv5615341,essv6434770,essv5660197,essv6144046,essv5888259,essv6437150,essv6013025,essv6437407,essv5431171,essv6460089,essv5944582,essv6438293,essv5919286,essv6553343,essv5565444,essv6439682,essv5732879,essv6457377,essv5706433,essv6204433,essv5568792,essv6567171,essv6001694,essv6223357,essv5898963,essv6181789,essv5885998,essv6445344,essv5974899,essv6199767,essv5657226,essv6188254,essv5883717,essv6446815,essv5713207,essv6447551,essv6101258,essv6448880,essv5468369,essv6529541,essv5594683,essv6456001,essv5633920,essv6220846,essv5411481,essv6578498,essv5830102,essv6583114,essv5648964,essv6561033,essv5496511,essv6582863,essv6045437,essv6234077,essv5663198,essv6280172,essv5578606,essv6260022,essv5887860,essv6532865,essv5467001,essv6300674,essv5469789,essv6564758,essv6101279,essv6591878,essv5859573,essv6539319,essv5863471,essv6315900,essv5726618,essv6522474,essv5513375,essv6163227,essv5843050,essv6538666,essv6083679,essv6275996,essv5499361,essv6252430,essv5914728,essv6278709,essv5867308,essv6237721,essv5578554,essv6320340,essv5948251,essv6320910,essv5498166,essv6553185,essv5752385,essv6258016,essv6056766,essv6276421,essv5517797,essv6463915,essv5702989,essv6325266,essv5426116,essv6194663,essv6025649,essv6327643,essv5652419,essv6502810,essv5496017,essv6158659,essv5616664,essv6335967,essv5978628,essv6336469,essv5941008,essv6244536,essv5885018,essv6228976,essv5471360,essv6339144,essv5783493,essv6173656,essv5793601,essv6265257,essv5424544,essv6341849,essv5456664,essv6537251,essv5583578,essv6128686,essv5750987,essv6220496,essv5518716,essv6538355,essv5985350,essv6215106,essv6051065,essv6557644,essv6074043,essv6295641,essv5971444,essv6207338,essv5832123,essv6349629,essv6001217,essv6350182,essv5535991,essv6243422,essv5721341,essv6351628,essv5817920,essv6352121,essv5674877,essv6354596,essv6104290,essv6458867,essv5933284,essv6224800,essv5887466,essv6359108,essv5977635,essv6524753,essv5434081,essv6360631,essv5742494,essv6471445,essv5467091,essv6474836,essv5941170,essv6363574,essv5429106,essv6364636,essv5615345,essv6513521,essv5623261,essv6542299,essv5602057,essv6538862,essv5950163,essv6262209,essv6067469,essv6531799,essv5945444,essv6208875,essv5703075,essv6460871,essv5903725,essv6368218,essv6100913,essv6368260,essv5465256,essv6278188,essv5804443,essv6123419,essv5503996,essv6205811,essv5459892,essv6146097,essv5995640,essv6256029,essv5656577,essv6262943,essv6101186,essv6375782,essv5973645,essv6493220,essv5488749,essv6377477,essv6021886,essv6226909,essv5845678,essv6580334,essv5841447,essv6143825,essv5655953,essv6149675,essv5638447,essv6231889,essv5790385,essv5548255,essv6014100,essv5410354,essv5909372,essv5834192,essv5479749,essv5492773,essv5904698,essv6026203,essv5470790,essv5901085,essv5577785,essv5644417,essv5864128,essv5922588,essv5738934,essv5607310,essv5491686,essv5751448,essv5803129,essv5733303,essv5649812,essv5746061,essv5514109,essv5479850,essv5596504,essv5850739,essv5616249,essv5936962,essv5938008,essv6064219,essv5525837,essv5559627,essv5828027,essv6063198,essv5407641,essv5517206,essv5973359,essv5825826,essv5515576,essv5905120,essv5559069,essv5991660,essv5834705 M 1151 0 314 "" HG00111,HG00115,HG00136,HG00143,HG00152,HG00158,HG00190,HG00236,HG00246,HG00250,HG00253,HG00258,HG00269,HG00275,HG00313,HG00315,HG00318,HG00328,HG00335,HG00338,HG00346,HG00353,HG00373,HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00566,HG00577,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00596,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00704,HG00707,HG00708,HG00740,HG01047,HG01048,HG01055,HG01066,HG01069,HG01070,HG01079,HG01083,HG01124,HG01125,HG01136,HG01171,HG01174,HG01187,HG01204,HG01250,HG01251,HG01351,HG01354,HG01356,HG01357,HG01359,HG01440,HG01456,HG01462,HG01488,HG01489,HG01491,HG01492,HG01494,HG01550,NA07048,NA07056,NA07346,NA11843,NA11894,NA11918,NA12155,NA12249,NA12283,NA12286,NA12413,NA12718,NA12828,NA12829,NA12889,NA18526,NA18530,NA18534,NA18536,NA18537,NA18538,NA18539,NA18541,NA18543,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18560,NA18566,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18638,NA18940,NA18941,NA18942,NA18943,NA18944,NA18947,NA18949,NA18950,NA18951,NA18953,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA18999,NA19000,NA19004,NA19005,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19063,NA19064,NA19065,NA19066,NA19067,NA19070,NA19072,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19652,NA19655,NA19657,NA19658,NA19663,NA19664,NA19676,NA19679,NA19681,NA19682,NA19684,NA19719,NA19722,NA19728,NA19749,NA19755,NA19759,NA19770,NA19773,NA19776,NA19780,NA19785,NA19789,NA19900,NA20299,NA20317,NA20518,NA20529,NA20585,NA20770,NA20786,NA20792,NA20795,NA20796,NA20798,NA20800,NA20807,NA20809,NA20818 nsv4518395 1 1142719 1143140 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845808 M 10847 0 1 "" esv3683471 1 1142719 1143141 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16463791 M 20 0 1 "" nsv3319594 1 1142720 1143140 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488194,nssv14476202,nssv14490521,nssv14477389 M 14 0 4 "" HG00514,HG01352,HG02059,HG02106 nsv4047010 1 1143240 1143357 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846637 M 10847 0 1 "" nsv455661 1 1152631 1211292 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv533179 M 1557 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv544964 1 1152631 1211292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172577 M 17421 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv544965 1 1152631 1242084 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 1153093 1157960 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178465 M 24 SDF4 nsv4045167 1 1161060 1161738 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847662 M 10847 0 1 SDF4 nsv3319175 1 1161695 1161757 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490210,nssv14479337,nssv14486703 M 14 0 3 SDF4 HG00514,HG00733,HX1 esv3653729 1 1161716 1161781 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16477560 M 20 0 0 SDF4 esv3651242 1 1162672 1162847 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464503 M 20 0 1 SDF4 esv3540788 1 1162672 1162882 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9739535 M 767 0 1 SDF4 nsv3319602 1 1162682 1162845 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472987,nssv14478906,nssv14475100 M 14 0 3 SDF4 HG00514,HG00733,HX1 nsv4038629 1 1162705 1163192 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847754 M 10847 0 1 SDF4 nsv821698 1 1164350 1169770 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433403 M 31 1 0 B3GALT6,SDF4 NA18526 nsv4052015 1 1167854 1167908 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847785 M 10847 0 1 B3GALT6 esv33767 1 1168116 1169076 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv96403,essv92753,essv95205 M 51 0 3 B3GALT6 21721,21944,22371 nsv4569245 1 1170330 1170331 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025757 M 10847 1 0 B3GALT6 esv3584991 1 1171539 1179729 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840571,essv9840570,essv9840552,essv9840543,essv9840569,essv9840542,essv9840541,essv9840546,essv9840551,essv9840545,essv9840544,essv9840547,essv9840550,essv9840549,essv9840548,essv9840554,essv9840568,essv9840559,essv9840553,essv9840558,essv9840555,essv9840557,essv9840556,essv9840562,essv9840567,essv9840561,essv9840560,essv9840563,essv9840566,essv9840565,essv9840564,essv9840584,essv9840574,essv9840601,essv9840573,essv9840572,essv9840583,essv9840575,essv9840578,essv9840577,essv9840576,essv9840582,essv9840579,essv9840581,essv9840580,essv9840586,essv9840600,essv9840591,essv9840585,essv9840590,essv9840587,essv9840589,essv9840588,essv9840594,essv9840599,essv9840593,essv9840592,essv9840595,essv9840598,essv9840597,essv9840596,essv9840602,essv9840603,essv9840605,essv9840604 M 2504 65 0 FAM132A HG00341,HG00345,HG00346,HG00353,HG00376,HG00378,HG00382,HG00383,HG00406,HG00419,HG00421,HG00422,HG00428,HG00437,HG00442,HG00443,HG00445,HG00448,HG00451,HG00452,HG00457,HG00473,HG00475,HG00476,HG00479,HG00536,HG00844,HG00851,HG00881,HG00956,HG00982,HG01028,HG01029,HG01046,HG01085,HG01086,HG01104,HG01105,HG01348,HG01625,HG01700,HG01702,HG01860,HG01880,HG01896,HG01915,HG01923,HG02147,HG02278,NA06989,NA07048,NA11843,NA12058,NA18567,NA18982,NA18983,NA18985,NA19000,NA19059,NA19060,NA19062,NA19712,NA19914,NA19916,NA19920 nsv4033071 1 1173971 1174197 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847506 M 10847 0 1 "" nsv3319371 1 1176029 1176029 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478763,nssv14480029,nssv14481658 M 14 3 0 "" HG01352,HG02106,NA19240 nsv4039423 1 1178412 1179340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846222 M 10847 0 1 FAM132A dgv10n106 1 1180000 1180800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1118088,nsv1112515 M 2 0 2 FAM132A KWS1,KWS2 nsv1074016 1 1180099 1180700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769035 M 1 0 1 FAM132A KWP1 nsv3319176 1 1180539 1180539 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479210,nssv14490902,nssv14477481,nssv14483572,nssv14481518,nssv14478818,nssv14474821,nssv14473607,nssv14480674,nssv14477349 M 14 10 0 FAM132A CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA19240,NA19434 esv5277 1 1183198 1183861 CNV loss Wang_et_al_2008 18987735 Sequencing essv27718 M 1 0 1 "" YH esv3543010 1 1183399 1183707 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9741757 M 767 0 1 "" esv2668719 1 1183409 1183745 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6261554,essv5560832,essv6161479,essv5669228,essv6179947,essv5954327,essv6391109,essv5940370,essv6509430,essv5717657,essv6407286,essv5585922,essv6414921,essv5492979,essv6588959,essv5549681,essv6419526,essv5770629,essv6422432,essv5640761,essv6585409,essv5507509,essv6427194,essv5910444,essv5999528,essv5763188,essv6433471,essv5677508,essv6185697,essv5465241,essv6455939,essv5749614,essv6293240,essv5398259,essv6574790,essv5861847,essv6139409,essv5885116,essv6086244,essv5668182,essv6595273,essv5601093,essv6211939,essv5689300,essv6510773,essv5712419,essv6117765,essv5650707,essv6063925,essv5720768,essv6230316,essv5434280,essv6131316,essv5581180,essv6581210,essv5848923,essv6307777,essv5916807,essv6313643,essv5605806,essv6583372,essv5748541,essv6468715,essv5418766,essv6266824,essv5892946,essv6503217,essv6327485,essv6201177,essv5983254,essv6329865,essv6331138,essv6477402,essv6010561,essv6240718,essv6339447,essv6342496,essv6519482,essv6105175,essv6527997,essv6133384,essv6346924,essv6348798,essv6196338,essv6493791,essv6355570,essv6151367,essv6260648,essv6153278,essv6063511,essv6121162 M 1151 0 91 "" HG00103,HG00237,HG00260,HG00318,HG00334,HG00337,HG00345,HG00418,HG00421,HG00500,HG00531,HG00534,HG00536,HG00580,HG00584,HG00613,HG00614,HG00620,HG00651,HG00654,HG00656,HG00683,HG00692,HG00698,HG00699,HG00702,HG00704,HG00707,HG00708,HG01072,HG01334,HG01350,NA07357,NA12827,NA18489,NA18498,NA18499,NA18505,NA18530,NA18532,NA18534,NA18536,NA18542,NA18546,NA18549,NA18557,NA18561,NA18562,NA18563,NA18564,NA18566,NA18567,NA18572,NA18592,NA18593,NA18599,NA18605,NA18608,NA18610,NA18612,NA18613,NA18624,NA18635,NA18637,NA18923,NA18940,NA18953,NA18960,NA18977,NA19007,NA19102,NA19197,NA19327,NA19355,NA19359,NA19360,NA19371,NA19383,NA19391,NA19396,NA19397,NA19401,NA19463,NA19625,NA19704,NA19712,NA19786,NA20126,NA20289,NA20758,NA20796 nsv3319604 1 1183435 1183698 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488685,nssv14477284,nssv14482267,nssv14472509,nssv14487394 M 14 0 5 "" HG00514,HG01352,HG02059,HX1,NA19434 nsv4516962 1 1183455 1183697 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847572 M 10847 0 1 "" nsv3319372 1 1183598 1183862 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488985 M 14 0 1 "" HG01352 nsv4050945 1 1183822 1183892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848400 M 10847 0 1 "" nsv4043960 1 1183956 1184156 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848492 M 10847 0 1 "" nsv3319605 1 1184024 1184089 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485677 M 14 0 1 "" NA19434 nsv3319606 1 1184154 1184351 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477434,nssv14489388 M 14 0 2 "" HG00268,HG01352 esv3337442 1 1184189 1185087 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691758 M 185 1 0 "" NA19240 nsv3319373 1 1184262 1184327 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488393 M 14 0 1 "" NA19240 nsv3319177 1 1184262 1184591 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475705,nssv14474570,nssv14478520,nssv14478067 M 14 0 4 "" HG00514,HG01352,HG02059,HX1 nsv3319607 1 1184286 1184286 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485781 M 14 1 0 "" NA12878 nsv3319608 1 1184353 1184353 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478140 M 14 1 0 "" HG01352 esv1750792 1 1184373 1184637 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3720664 M 2 0 1 "" HuRef nsv3319375 1 1184725 1184789 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476105 M 14 0 1 "" HG01352 nsv3319820 1 1184904 1184904 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479441 M 14 1 0 "" HG02059 nsv3319821 1 1184991 1184991 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472102,nssv14480633 M 14 2 0 "" HG02059,HG02818 nsv4032504 1 1186757 1219559 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966214 M 10847 1 0 SCNN1D,UBE2J2 nsv4459208 1 1189291 1189292 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024756 M 10847 1 0 "" nsv817616 1 1192515 1242084 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417737 M 112 0 1 ACAP3,MIR6726,SCNN1D,UBE2J2 NA19003 nsv4043953 1 1192727 1197605 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966220 M 10847 1 0 UBE2J2 esv2758912 1 1199320 1319872 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 nsv4039519 1 1202082 1202153 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848238 M 10847 0 1 UBE2J2 nsv3319379 1 1204480 1204634 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477730,nssv14474139 M 14 0 2 UBE2J2 NA19240,NA19434 esv3656519 1 1204552 1204633 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16480071 M 20 0 0 UBE2J2 nsv4458911 1 1205588 1205589 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023686 M 10847 1 0 UBE2J2 nsv1074020 1 1208999 1209800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772835 M 1 0 1 UBE2J2 KWP1 nsv1118089 1 1209000 1209700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980307 M 2 0 1 UBE2J2 KWS1 nsv4043893 1 1209419 1231322 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966234 M 10847 1 0 ACAP3,SCNN1D nsv3319183 1 1215961 1215961 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473786 M 14 1 0 SCNN1D NA12878 nsv4049654 1 1216702 1218708 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848329 M 10847 0 1 SCNN1D nsv1000169 1 1217058 1297734 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 nsv1160788 1 1218086 1311716 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026656 M 369 0 1 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3 nsv1118090 1 1219400 1219800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980308 M 2 0 1 SCNN1D KWS1 esv3408806 1 1219431 1219821 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652039 M 185 1 0 SCNN1D NA19240 nsv4533016 1 1219530 1219531 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024866 M 10847 1 0 SCNN1D nsv3319611 1 1219546 1219546 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473172,nssv14484605,nssv14490403,nssv14485883,nssv14483409,nssv14487405,nssv14472687 M 14 7 0 SCNN1D CHM1,CHM13,HG00733,HG02059,HG02106,NA12878,NA19434 nsv4045190 1 1222300 1223266 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846332 M 10847 0 1 SCNN1D nsv4041039 1 1223412 1223474 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15960562 M 10847 1 0 SCNN1D dgv5n166 1 1223474 1224050 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4037457,nsv4516648 M 10847 0 2 SCNN1D nsv4035428 1 1223522 1223602 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15960571 M 10847 1 0 SCNN1D esv25372 1 1223559 1225694 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 dgv6n166 1 1223561 1223680 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4518071,nsv4033558 M 10847 2 0 SCNN1D esv2106414 1 1223568 1225749 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4728356 M 1 0 1 SCNN1D NA18507 nsv499366 1 1223580 1225633 CNV gain Kidd_et_al_2010b 21111241 Sequencing nssv585600 M 9 1 0 SCNN1D dgv1e199 1 1223581 1225588 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2677875,esv2668981 M 1151 0 33 SCNN1D HG00136,HG00442,HG00501,HG00543,HG00581,HG00613,HG01055,HG01060,HG01079,HG01198,HG01342,NA11994,NA18523,NA18632,NA18853,NA18870,NA19056,NA19088,NA19213,NA19257,NA19346,NA19398,NA19439,NA19448,NA19451,NA19452,NA19462,NA19625,NA19722,NA19834,NA20332,NA20542,NA20586 nsv3319383 1 1223605 1224328 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488355 M 14 0 1 SCNN1D NA12878 esv3659330 1 1223606 1223773 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465231 M 20 0 1 SCNN1D nsv3319185 1 1223621 1223621 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473586,nssv14481206 M 14 2 0 SCNN1D HG02059,NA19434 nsv544966 1 1223621 1225559 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708527 M 17421 1 0 SCNN1D esv3545232 1 1223634 1225435 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9743979 M 767 0 1 SCNN1D esv1004967 1 1223644 1225609 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586753 M 3 1 0 SCNN1D HuRef nsv3319186 1 1223682 1223787 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491219 M 14 0 1 SCNN1D HG00268 nsv3319612 1 1223721 1223721 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478225,nssv14478279 M 14 2 0 SCNN1D HG02059,NA19434 nsv3319187 1 1223808 1223808 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477417,nssv14477422,nssv14491561 M 14 3 0 SCNN1D CHM13,HG02059,NA19434 nsv3319188 1 1223847 1223847 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491952 M 14 1 0 SCNN1D CHM13 nsv511671 1 1223858 1225621 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626308 M 1 0 1 SCNN1D 1 nsv4045971 1 1223878 1224700 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15960599 M 10847 1 0 SCNN1D nsv3319825 1 1223900 1223900 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482360,nssv14488055 M 14 2 0 SCNN1D CHM13,NA19434 nsv3319613 1 1223930 1223930 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490463 M 14 1 0 SCNN1D CHM13 esv1653789 1 1223947 1224229 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3908676 M 2 0 1 SCNN1D HuRef nsv3319384 1 1223950 1223950 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489076 M 14 1 0 SCNN1D HG02059 nsv3319615 1 1223987 1223987 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474234 M 14 1 0 SCNN1D CHM13 nsv3319616 1 1224008 1224008 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489526 M 14 1 0 SCNN1D CHM13 nsv3319189 1 1224053 1224053 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482205 M 14 1 0 SCNN1D CHM13 nsv3319190 1 1224091 1224091 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479247,nssv14481253 M 14 2 0 SCNN1D CHM1,HG02059 nsv3319617 1 1224131 1224188 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486393 M 14 0 1 SCNN1D HG02059 nsv3319191 1 1224174 1224174 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480578 M 14 1 0 SCNN1D CHM13 nsv3319826 1 1224212 1224212 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481951 M 14 1 0 SCNN1D NA19434 nsv3319618 1 1224239 1224239 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488480,nssv14475139 M 14 2 0 SCNN1D CHM13,HG02059 esv1027332 1 1224273 1225316 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4148647 M 2 0 1 SCNN1D HuRef nsv3319619 1 1224305 1224305 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491296 M 14 1 0 SCNN1D HG00733 nsv3319620 1 1224387 1224387 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472113,nssv14482260 M 14 2 0 SCNN1D CHM13,HG00733 nsv3319827 1 1224447 1224505 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472726 M 14 0 1 SCNN1D HG02059 nsv3319828 1 1224474 1224474 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476312,nssv14482354,nssv14487865,nssv14473559 M 14 4 0 SCNN1D CHM13,HG00268,HG02059,NA19434 nsv3319385 1 1224501 1224501 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489662,nssv14481670,nssv14479801,nssv14478719 M 14 4 0 SCNN1D CHM13,HG00268,HG02059,NA19434 nsv3319621 1 1224548 1224548 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481885 M 14 1 0 SCNN1D HG02059 nsv3319622 1 1224568 1224568 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488929,nssv14479815 M 14 2 0 SCNN1D CHM1,CHM13 nsv3319623 1 1224600 1224600 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473494,nssv14485960 M 14 2 0 SCNN1D CHM13,HG00733 nsv3319386 1 1224606 1224606 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491475 M 14 1 0 SCNN1D HG02059 nsv3319387 1 1224634 1224711 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474887 M 14 0 1 SCNN1D HG00268 nsv3319388 1 1224662 1224662 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481082 M 14 1 0 SCNN1D HG02059 nsv3319192 1 1224706 1224706 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475476,nssv14475422 M 14 2 0 SCNN1D CHM13,HG02059 nsv3319829 1 1224738 1224738 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488551,nssv14485255,nssv14473459 M 14 3 0 SCNN1D CHM1,CHM13,HG02059 nsv3319389 1 1224781 1224781 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478421 M 14 1 0 SCNN1D CHM1 nsv3319193 1 1224845 1224845 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489465 M 14 1 0 SCNN1D HG02059 nsv3319830 1 1224850 1224957 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490027 M 14 0 1 SCNN1D HG02059 nsv3319194 1 1224902 1224902 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475642,nssv14490247 M 14 2 0 SCNN1D CHM13,HG02059 nsv3319831 1 1224920 1224920 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474096,nssv14489913 M 14 2 0 SCNN1D CHM1,NA19434 nsv3319626 1 1224942 1224942 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490683,nssv14484536 M 14 2 0 SCNN1D CHM13,HG02059 nsv3319627 1 1225014 1225014 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485360 M 14 1 0 SCNN1D HG02059 nsv3319628 1 1225023 1225023 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491216,nssv14489179 M 14 2 0 SCNN1D CHM13,HG02059 nsv3319195 1 1225041 1225041 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488910 M 14 1 0 SCNN1D HG02059 nsv3319832 1 1225050 1225109 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480609,nssv14478206 M 14 0 2 SCNN1D HG02059,HG02106 nsv3319390 1 1225164 1225214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486531 M 14 0 1 SCNN1D HG02059 nsv3319833 1 1225166 1225166 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476885 M 14 1 0 SCNN1D NA19434 nsv3319834 1 1225347 1225347 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479513,nssv14489084 M 14 2 0 SCNN1D HG02059,NA19434 nsv3319630 1 1225370 1225423 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473190,nssv14475882 M 14 0 2 SCNN1D HG02059,HG02106 esv1323061 1 1225406 1225406 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3960677 M 2 1 0 SCNN1D HuRef nsv3319631 1 1225425 1225425 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476812,nssv14483011,nssv14486209 M 14 3 0 SCNN1D HG00268,HG00733,HG02059 nsv3319835 1 1225462 1225462 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487563,nssv14481225,nssv14489300,nssv14484638 M 14 4 0 SCNN1D CHM1,HG00268,HG02059,NA19434 nsv3319197 1 1225553 1225553 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482027 M 14 1 0 SCNN1D NA19434 nsv3319836 1 1225563 1225563 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486870 M 14 1 0 SCNN1D HG02059 nsv3319632 1 1225570 1225570 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491851 M 14 1 0 SCNN1D HG00733 nsv3319837 1 1225594 1225594 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475760 M 14 1 0 SCNN1D HG02059 dgv25n54 1 1226063 1241746 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544970,nsv544967,nsv544968 M 17421 0 3 ACAP3,MIR6726,SCNN1D nsv544969 1 1226063 1309977 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 1229112 1229112 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179528 M 24 ACAP3 nsv544971 1 1229443 1286806 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 nsv3319633 1 1232172 1232233 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483061 M 14 0 1 ACAP3 HG00268 esv3050 1 1232448 1233224 CNV loss Wang_et_al_2008 18987735 Sequencing essv25491 M 1 0 1 ACAP3 YH esv3662985 1 1232497 1232996 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465560 M 20 0 1 ACAP3 nsv3319634 1 1232498 1232770 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489040,nssv14477748 M 14 0 2 ACAP3 HG00268,NA19434 nsv3319198 1 1232595 1233086 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475856,nssv14483550,nssv14476894,nssv14480915 M 14 0 4 ACAP3 HG00514,HG02059,HG02106,NA19434 nsv3319391 1 1232760 1232893 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481169 M 14 0 1 ACAP3 HX1 nsv3319199 1 1232863 1233086 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472383,nssv14484363 M 14 0 2 ACAP3 HG00268,NA19434 dgv6n100 1 1237130 1297734 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 nsv1133121 1 1238973 1239037 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987938 M 2 1 0 ACAP3 KWS1 esv3667096 1 1238994 1239056 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465930 M 20 0 1 ACAP3 nsv4051232 1 1239000 1249150 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963105 M 10847 1 0 ACAP3,CPSF3L,MIR6727,PUSL1 nsv1119655 1 1239010 1239071 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982099 M 2 0 1 ACAP3 KWS1 nsv1140724 1 1239073 1239204 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992231 M 2 0 1 ACAP3 KWS1 esv3890636 1 1239935 1288583 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25780752 M 3017 0 1 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 nsv4047535 1 1240709 1240791 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847955 M 10847 0 1 ACAP3 nsv997291 1 1242215 1311716 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 1242215 1314437 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998999,nsv1008000 M 29084 0 2 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 nsv1009541 1 1242215 1453590 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 nsv1074967 1 1243099 1243500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771481 M 1 0 1 ACAP3 KWP1 nsv1118091 1 1243100 1243400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980309 M 2 0 1 ACAP3 KWS1 nsv3319202 1 1246173 1246173 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477981 M 14 1 0 PUSL1 HG01352 esv3671686 1 1246204 1246274 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16466343 M 20 0 1 PUSL1 esv3584992 1 1249799 1265722 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840607,essv9840606 M 2504 2 0 CPSF3L,GLTPD1 HG01631,NA19189 esv3366182 1 1250989 1251287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691772 M 185 1 0 CPSF3L NA19238 esv3547454 1 1252191 1252529 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9746201 M 767 0 1 CPSF3L nsv4044404 1 1252214 1252645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849110 M 10847 0 1 CPSF3L nsv476469 1 1252776 1252776 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019423 M 9 1 0 CPSF3L NA12878 nsv544972 1 1256552 1273116 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708533 M 17421 0 1 CPSF3L,DVL1,GLTPD1,TAS1R3 dgv26n54 1 1256552 1286806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544975,nsv544973,nsv544974,nsv544976 M 17421 0 4 CPSF3L,DVL1,GLTPD1,MIR6808,TAS1R3 nsv1130939 1 1257800 1258200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967637 M 2 0 1 CPSF3L KWS2 esv3662269 1 1258960 1258960 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485246 M 20 1 0 CPSF3L nsv1074436 1 1259099 1259700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763744 M 1 0 1 CPSF3L KWP1 nsv1118092 1 1259200 1259700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980310 M 2 0 1 CPSF3L KWS1 nsv3319637 1 1259527 1259527 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478378,nssv14485993,nssv14491311,nssv14491920 M 14 4 0 CPSF3L HG00514,HG00733,HG02106,NA12878 nsv4534237 1 1260142 1260143 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024356 M 10847 1 0 "" nsv4038031 1 1265350 1265403 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849754 M 10847 0 1 "" nsv4032525 1 1265435 1265566 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848028 M 10847 0 1 "" nsv544977 1 1269986 1287127 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708538,nssv708539 M 17421 1 1 DVL1,MIR6808 dgv27n54 1 1273116 1288823 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544978,nsv544979 M 17421 3 0 DVL1,MIR6808,MXRA8 dgv28n54 1 1276077 1295403 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544981,nsv544980 M 17421 2 0 DVL1,MXRA8 dgv29n54 1 1276410 1287127 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544983,nsv544987,nsv544988,nsv544990,nsv544982,nsv544989 M 17421 0 8 DVL1 dgv30n54 1 1276410 1288823 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544986,nsv544985,nsv544984 M 17421 6 0 DVL1,MXRA8 nsv544991 1 1277533 1296153 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708559 M 17421 0 1 DVL1,MXRA8 dgv11n106 1 1283900 1286700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1143427,nsv1121739 M 2 0 2 DVL1 KWS1,KWS2 nsv1074439 1 1284199 1286700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769368 M 1 0 1 DVL1 KWP1 nsv511672 1 1285180 1286870 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626309 M 1 0 1 "" 1 nsv3319641 1 1285355 1286034 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485392,nssv14489015,nssv14484435,nssv14485893,nssv14473588,nssv14474619,nssv14472431,nssv14479795,nssv14476999,nssv14484986,nssv14473371,nssv14485226 M 14 0 12 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 esv23965 1 1285400 1286900 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 1285400 1286900 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586390 M 3 0 1 "" HuRef dgv31n54 1 1285430 1286447 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544992,nsv544993 M 17421 0 2 "" dgv32n54 1 1285430 1287127 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544995,nsv544994 M 17421 10 5 "" nsv544996 1 1285430 1288823 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708579,nssv708578,nssv708577,nssv708580 M 17421 4 0 MXRA8 nsv4043616 1 1285913 1286794 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848677 M 10847 0 1 "" nsv544997 1 1285953 1286747 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708581 M 17421 0 1 "" dgv33n54 1 1286009 1289761 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544998,nsv544999 M 17421 0 2 MXRA8 nsv3319642 1 1286195 1286315 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478836,nssv14472974 M 14 0 2 "" HG01352,HG02059 nsv3319398 1 1286307 1286546 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474835,nssv14482829,nssv14485473,nssv14485139,nssv14473110,nssv14473948,nssv14479528,nssv14484600,nssv14473440,nssv14477049 M 14 0 10 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,NA12878 nsv3319399 1 1286667 1286826 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479941,nssv14490537,nssv14476959,nssv14483323,nssv14475992,nssv14483959,nssv14481656,nssv14491178,nssv14476877,nssv14482713 M 14 0 10 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,NA12878,NA19240,NA19434 nsv3319400 1 1286807 1286807 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486813 M 14 1 0 "" NA19434 nsv4034290 1 1287237 1287303 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849886 M 10847 0 1 "" nsv1074030 1 1290399 1292200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770647 M 1 0 1 MXRA8 KWP1 nsv1136054 1 1290400 1292200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966614,nssv3984395 M 2 0 2 MXRA8 KWS1,KWS2 nsv4051472 1 1290843 1462681 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963132 M 10847 1 0 ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,CCNL2,LOC148413,MRPL20,MXRA8,TMEM88B,VWA1 nsv3319852 1 1294139 1294195 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487571 M 14 0 1 MXRA8 HG00268 nsv4044835 1 1294139 1294195 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849978 M 10847 0 1 MXRA8 nsv4039044 1 1297000 1322000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963142 M 10847 1 0 AURKAIP1,CCNL2,MXRA8 esv3662914 1 1298487 1298487 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485826 M 20 1 0 MXRA8 nsv4041741 1 1299210 1299686 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963151 M 10847 1 0 "" esv3680341 1 1301943 1302015 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467122 M 20 0 1 "" esv9582 1 1302093 1303093 CNV loss Ahn_et_al_2009 19470904 Sequencing essv32023 M 1 0 0 "" nsv4518162 1 1302305 1302833 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849803 M 10847 0 1 "" esv3665433 1 1302326 1302528 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488094 M 20 0 0 "" nsv3319210 1 1302334 1302527 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477176,nssv14489497,nssv14486882,nssv14489350,nssv14473241,nssv14489171 M 14 0 6 "" HG00514,HG01352,HG02059,HG02106,NA19240,NA19434 esv3820 1 1302378 1302825 CNV loss Wang_et_al_2008 18987735 Sequencing essv26261 M 1 0 1 "" YH esv3663178 1 1303558 1303558 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486064 M 20 1 0 "" esv3584994 1 1304952 1323528 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840642 M 2504 1 0 AURKAIP1,CCNL2 HG02401 nsv4051640 1 1307121 1307180 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850637 M 10847 0 1 "" nsv4571333 1 1312710 1312711 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025610 M 10847 1 0 "" nsv4040449 1 1314604 1315153 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963170 M 10847 1 0 "" esv2540358 1 1317297 1317998 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5193104 M 1 1 0 "" NA18507 nsv3319647 1 1317755 1317755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489334 M 14 1 0 "" HG02059 esv3681274 1 1317815 1318006 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467206 M 20 0 1 "" nsv3319855 1 1317854 1317854 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482594 M 14 1 0 "" HG02059 nsv3319648 1 1317892 1317892 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474370 M 14 1 0 "" HG02059 nsv3319211 1 1317968 1317968 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491017,nssv14486371,nssv14483388,nssv14476930,nssv14482135,nssv14482307,nssv14491594,nssv14478805,nssv14487597,nssv14474718,nssv14482639,nssv14474797,nssv14491627 M 14 13 0 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3319649 1 1318012 1318012 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485135,nssv14488133,nssv14480527,nssv14489569,nssv14476154,nssv14483612,nssv14484590,nssv14482082,nssv14482785,nssv14488518,nssv14484904,nssv14486000,nssv14486397 M 14 13 0 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv3663290 1 1319645 1319645 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486165 M 20 1 0 "" esv2758913 1 1324529 2024338 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 1329712 1510801 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 nsv4046844 1 1340871 1359314 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963188 M 10847 1 0 ANKRD65,MRPL20 nsv4517760 1 1344961 1345321 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850493 M 10847 0 1 "" nsv4043109 1 1347227 1347295 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963197 M 10847 1 0 "" esv3681973 1 1347333 1347392 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467269 M 20 0 1 "" nsv3319857 1 1347421 1347478 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476315 M 14 0 1 "" HG01352 nsv4516586 1 1347475 1347529 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850676 M 10847 0 1 "" esv3577672 1 1352531 1443716 CNV loss Uddin_et_al_2014 25503493 SNP array essv9766642 M 873 0 1 ANKRD65,ATAD3B,ATAD3C,TMEM88B,VWA1 400719TM nsv1074445 1 1355499 1356100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767725 M 1 0 1 ANKRD65 KWP1 nsv1143428 1 1355600 1356100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980625 M 2 0 1 ANKRD65 KWS1 nsv545000 1 1356550 1509034 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708584 M 17421 0 1 ANKRD65,ATAD3A,ATAD3B,ATAD3C,SSU72,TMEM240,TMEM88B,VWA1 nsv4517395 1 1357287 1357364 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850718 M 10847 0 1 "" nsv1126168 1 1361800 1363600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984396 M 2 0 1 TMEM88B KWS1 nsv1074978 1 1362399 1363600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767910 M 1 0 1 TMEM88B KWP1 esv24333 1 1362430 1363536 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10423 M 40 1 0 TMEM88B NA06985 nsv1121740 1 1362600 1363600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968389 M 2 0 1 TMEM88B KWS2 esv3389517 1 1362678 1363659 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652040 M 185 1 0 TMEM88B NA19240 nsv3319858 1 1362828 1362828 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486337 M 14 1 0 TMEM88B NA12878 nsv3320278 1 1362857 1362857 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491327,nssv14488715,nssv14480971,nssv14483881,nssv14485802,nssv14490528,nssv14489594 M 14 7 0 TMEM88B HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,NA12878 nsv3319214 1 1363399 1363399 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491947 M 14 1 0 "" HG01352 nsv3319406 1 1363412 1363412 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480838,nssv14472372,nssv14478796,nssv14483549 M 14 4 0 "" HG00268,HG00514,HG02059,NA12878 nsv3319215 1 1363467 1363467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478984,nssv14476316,nssv14483101,nssv14476840,nssv14486973,nssv14480627,nssv14483379 M 14 7 0 "" HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,NA12878 nsv3319859 1 1363501 1363501 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486490,nssv14480232,nssv14487884 M 14 3 0 "" HG00733,HG02106,NA12878 nsv4038277 1 1363702 1363857 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963208 M 10847 1 0 "" nsv4517880 1 1367881 1368872 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850729 M 10847 0 1 "" nsv4040619 1 1368493 1369096 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963222 M 10847 1 0 "" nsv4050713 1 1369425 1369755 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850737 M 10847 0 1 "" nsv4036305 1 1373967 1374076 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850748 M 10847 0 1 VWA1 nsv545001 1 1376147 1431798 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708585 M 17421 0 1 ATAD3B,ATAD3C,VWA1 nsv4037598 1 1380400 1391500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850756 M 10847 0 1 ATAD3C nsv3319868 1 1380550 1380632 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489488 M 14 0 1 "" HG00268 nsv3320517 1 1382730 1382730 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475485 M 14 1 0 "" HG00268 nsv3320519 1 1383157 1383157 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14477013 M 14 1 0 "" HG00268 nsv1119656 1 1383278 1383336 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982100 M 2 0 1 "" KWS1 nsv3320334 1 1383806 1383806 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14472542 M 14 1 0 "" HG00268 nsv3320104 1 1384322 1384322 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491588 M 14 1 0 "" HG00268 nsv482135 1 1385069 1405538 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558496 M 1 1 0 ATAD3C KB1 nsv3320105 1 1385145 1385445 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485688 M 14 0 1 ATAD3C HG00268 dgv34n54 1 1385211 1439694 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 1385320 1398680 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750428,nssv1750430,nssv1750488,nssv1750431,nssv1749484,nssv1750420,nssv1750419,nssv1750437,nssv1749478,nssv1750445,nssv1749487,nssv1750432,nssv1749481,nssv1750452,nssv1750417,nssv1750461,nssv1749475,nssv1750446,nssv1750487,nssv1750476,nssv1750425,nssv1750435,nssv1749476,nssv1750455,nssv1750481,nssv1750464,nssv1750421,nssv1750471,nssv1749486,nssv1750493,nssv1749471,nssv1750456,nssv1749485,nssv1750457,nssv1750486,nssv1750458,nssv1749480,nssv1750501,nssv1750483,nssv1750470,nssv1750412,nssv1750453,nssv1749477,nssv1750434,nssv1749479,nssv1750492,nssv1750490,nssv1750442,nssv1750480,nssv1750450,nssv1750416,nssv1750497,nssv1750479,nssv1750443,nssv1750482,nssv1750439,nssv1750414,nssv1750466,nssv1750413,nssv1750460,nssv1750426,nssv1750477,nssv1749474,nssv1750449,nssv1750415,nssv1750475,nssv1750489,nssv1750469,nssv1749482,nssv1750468,nssv1749473,nssv1750463,nssv1750499,nssv1750433,nssv1750474,nssv1750491,nssv1750494,nssv1750465,nssv1750495,nssv1750444,nssv1750478,nssv1750454,nssv1750500,nssv1750448,nssv1750424,nssv1749470,nssv1750472,nssv1750459,nssv1750441,nssv1750447,nssv1750423,nssv1750427,nssv1750422,nssv1750436,nssv1750498,nssv1750467,nssv1750438 M 97 10 0 ATAD3C HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv7n166 1 1385461 1423235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4033203,nsv4046381 M 10847 0 2 ATAD3B,ATAD3C nsv3320533 1 1386422 1386684 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14479173 M 14 0 1 ATAD3C HG00268 nsv4050842 1 1387215 1415991 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962533 M 10847 1 0 ATAD3B,ATAD3C esv3584995 1 1388953 1410796 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840665,essv9840648,essv9840647,essv9840643,essv9840646,essv9840645,essv9840644,essv9840650,essv9840664,essv9840655,essv9840649,essv9840651,essv9840654,essv9840653,essv9840652,essv9840658,essv9840663,essv9840657,essv9840656,essv9840659,essv9840662,essv9840661,essv9840660,essv9840680,essv9840671,essv9840667,essv9840666,essv9840670,essv9840669,essv9840668,essv9840672,essv9840679,essv9840674,essv9840673,essv9840675,essv9840678,essv9840677,essv9840676,essv9840682,essv9840681,essv9840683 M 2504 0 41 ATAD3B,ATAD3C HG00109,HG00232,HG00268,HG00536,HG01085,HG01280,HG01509,HG01556,HG01607,HG01631,HG01694,HG01842,HG02232,HG02465,HG02561,HG02648,HG02725,HG03097,HG03234,HG03265,HG03298,HG03433,HG03464,HG03693,HG03844,HG04182,HG04214,NA11918,NA11920,NA12046,NA12546,NA12778,NA18486,NA18516,NA19171,NA19189,NA19308,NA19794,NA20870,NA20910,NA21108 nsv4040104 1 1389003 1410638 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850776 M 10847 0 1 ATAD3B,ATAD3C nsv4559999 1 1391221 1391222 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025096 M 10847 1 0 ATAD3C dgv1e214 1 1392382 1427383 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3584997,esv3584996 M 2504 0 42 ATAD3B,ATAD3C HG00109,HG00232,HG00268,HG00536,HG01085,HG01280,HG01509,HG01556,HG01607,HG01631,HG01694,HG01842,HG02232,HG02465,HG02648,HG02725,HG03097,HG03234,HG03265,HG03298,HG03433,HG03464,HG03693,HG03844,HG04182,HG04214,NA11918,NA11920,NA12046,NA12546,NA12778,NA18486,NA18516,NA19171,NA19189,NA19308,NA19438,NA19794,NA20314,NA20870,NA20910,NA21108 nsv4049839 1 1393637 1393784 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848773 M 10847 0 1 ATAD3C esv3584998 1 1393861 1427383 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840767,essv9840776,essv9840766,essv9840775,essv9840770,essv9840769,essv9840768,essv9840774,essv9840771,essv9840773,essv9840772,essv9840778,essv9840783,essv9840777,essv9840782,essv9840779,essv9840781,essv9840780,essv9840786,essv9840784,essv9840785 M 2504 21 0 ATAD3B,ATAD3C HG00620,HG00982,HG01757,HG01815,HG02079,HG02141,HG02165,HG02178,HG02180,HG02382,HG02389,HG02521,HG02786,HG03111,HG03235,HG03640,NA18574,NA18632,NA19383,NA19403,NA19776 esv3548565 1 1394384 1424669 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9747312 M 767 0 1 ATAD3B,ATAD3C nsv4534806 1 1396969 1396970 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026481 M 10847 1 0 ATAD3C nsv4048816 1 1396994 1397132 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962539 M 10847 1 0 ATAD3C esv3682295 1 1397028 1397107 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467298 M 20 0 1 ATAD3C dgv1e212 1 1397490 1429151 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577677,esv3577675,esv3577667,esv3577668 M 873 0 10 ATAD3B,ATAD3C 400554WB,400641WJ,400649PS,400800MW,400852WJ,401314MK,401432SB,401513KC,401769CR,401808PS dgv2e212 1 1397490 1453590 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577670,esv3577673,esv3577674,esv3577676,esv3577669 M 873 0 13 ATAD3A,ATAD3B,ATAD3C 400091BS,400364SS,400618GC,400695PH,400818BL,400834SS,401026AM,401380OL,401438HT,401804FG,401958MF,402001SR,402016HZ nsv4050019 1 1397764 1397826 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848783 M 10847 0 1 ATAD3C esv3584999 1 1400225 1409107 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840793,essv9840792,essv9840791,essv9840787,essv9840790,essv9840788,essv9840789,essv9840799,essv9840794,essv9840808,essv9840798,essv9840795,essv9840797,essv9840796,essv9840802,essv9840807,essv9840801,essv9840800,essv9840803,essv9840806,essv9840805,essv9840804,essv9840815,essv9840810,essv9840809,essv9840814,essv9840811,essv9840813,essv9840812,essv9840818,essv9840817,essv9840816,essv9840819,essv9840820 M 2504 0 34 ATAD3B,ATAD3C HG00109,HG00232,HG00268,HG00536,HG01085,HG01280,HG01509,HG01556,HG01631,HG01694,HG01842,HG02232,HG02465,HG02648,HG02725,HG03097,HG03234,HG03298,HG03433,HG03693,HG03844,HG04182,HG04214,NA11918,NA11920,NA12046,NA12546,NA12778,NA18486,NA19308,NA19722,NA19794,NA20910,NA21108 esv2662001 1 1400322 1408950 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5912105 M 1151 0 1 ATAD3B,ATAD3C NA19722 nsv1074040 1 1400436 1400509 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769063 M 1 0 1 ATAD3C KWP1 nsv4536120 1 1400613 1400614 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027141 M 10847 1 0 ATAD3C nsv3320558 1 1401386 1401933 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14492009 M 14 0 1 ATAD3C HG00268 esv3663499 1 1401915 1401915 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486352 M 20 1 0 ATAD3C nsv4037856 1 1402481 1429617 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962547 M 10847 1 0 ATAD3B,ATAD3C nsv3319912 1 1405130 1405568 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478103 M 14 0 1 ATAD3C HG00268 nsv3319919 1 1406247 1406591 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476799 M 14 0 1 "" HG00268 nsv3320569 1 1406936 1406936 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474924 M 14 1 0 "" HG00268 nsv1136055 1 1407100 1448100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989660 M 2 0 1 ATAD3A,ATAD3B KWS2 nsv482146 1 1407164 1431581 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558507 M 1 1 0 ATAD3B KB1 nsv4035141 1 1407214 1447570 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962555 M 10847 1 0 ATAD3A,ATAD3B nsv4043789 1 1407447 1408444 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848802 M 10847 0 1 ATAD3B nsv3320376 1 1408042 1410077 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478191 M 14 0 1 ATAD3B HG00268 nsv945743 1 1411587 1426269 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750594,nssv1750561,nssv1750504,nssv1750546,nssv1750516,nssv1750548,nssv1750526,nssv1750567,nssv1750592,nssv1750555,nssv1750593,nssv1750608,nssv1750510,nssv1750531,nssv1750536,nssv1750581,nssv1750590,nssv1750575,nssv1750513,nssv1750530,nssv1750505,nssv1750535,nssv1750534,nssv1750580,nssv1750533,nssv1750556,nssv1750528,nssv1750541,nssv1750506,nssv1750585,nssv1750514,nssv1750586,nssv1750508,nssv1750547,nssv1750589,nssv1750527,nssv1750503,nssv1750554,nssv1750591,nssv1750563,nssv1750512,nssv1750544,nssv1750520,nssv1750583,nssv1750525,nssv1750552,nssv1750509,nssv1750543,nssv1750519,nssv1750582,nssv1750588,nssv1750538,nssv1750511,nssv1750601,nssv1750524,nssv1750574,nssv1750515,nssv1750502,nssv1750522,nssv1750569,nssv1750521,nssv1750579,nssv1750598,nssv1750571,nssv1750523,nssv1750603,nssv1750597,nssv1750549,nssv1750587,nssv1750609,nssv1750517,nssv1750559,nssv1750565,nssv1750558,nssv1750600,nssv1750564,nssv1750602,nssv1750570,nssv1750604,nssv1750578,nssv1750550,nssv1750566,nssv1750560,nssv1750576,nssv1750537,nssv1750606,nssv1750542,nssv1750553,nssv1750572,nssv1750557,nssv1750545,nssv1750568,nssv1750539,nssv1750599,nssv1750577,nssv1750605,nssv1750532 M 97 10 0 ATAD3B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3320145 1 1411918 1412215 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14481053 M 14 0 1 ATAD3B HG00268 nsv3320572 1 1412550 1412550 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490636 M 14 1 0 ATAD3B HG00268 nsv4049373 1 1412633 1421868 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848812 M 10847 0 1 ATAD3B nsv1133122 1 1413220 1413353 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987939 M 2 1 0 ATAD3B KWS1 nsv3320573 1 1413230 1413230 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14488858,nssv14484079,nssv14478894,nssv14475149,nssv14478864 M 14 5 0 ATAD3B HG01352,HG02106,HG02818,NA19240,NA19434 esv3663562 1 1413234 1413234 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486409 M 20 1 0 ATAD3B nsv1119396 1 1413234 1413327 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3959838 M 2 1 0 ATAD3B KWS1 esv3670883 1 1413321 1413321 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493000 M 20 1 0 ATAD3B nsv3320574 1 1413321 1413321 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14482420,nssv14478035,nssv14489686,nssv14490249,nssv14490754,nssv14473785,nssv14491063,nssv14488678,nssv14473699,nssv14477193 M 14 10 0 ATAD3B CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA12878 esv1254392 1 1413349 1413349 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3989689 M 2 1 0 ATAD3B HuRef esv2661503 1 1414245 1416792 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6158256,essv5562046,essv5978113,essv5714896,essv6587240,essv5583587,essv6428187,essv5673238,essv5846416,essv5508008,essv6007146,essv5587762,essv5863834,essv6064386,essv5843575,essv6315584,essv6250432,essv6060091,essv5975062,essv5843579,essv6347901,essv6270841,essv6275133,essv6367328,essv6369700,essv6372532,essv6214666,essv6132856,essv6564232 M 1151 0 29 ATAD3B NA19652,NA19655,NA19660,NA19661,NA19663,NA19676,NA19682,NA19685,NA19716,NA19717,NA19722,NA19723,NA19725,NA19726,NA19731,NA19732,NA19746,NA19747,NA19750,NA19755,NA19756,NA19758,NA19759,NA19771,NA19776,NA19785,NA19786,NA19788,NA19789 nsv3320382 1 1414800 1414851 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477368,nssv14477267 M 14 0 2 ATAD3B HG02106,HG02818 esv25832 1 1414909 1416195 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11756 M 40 0 3 ATAD3B NA18511,NA18523,NA18861 nsv545010 1 1415099 1453921 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708596 M 17421 0 1 ATAD3A,ATAD3B nsv3319924 1 1415654 1416167 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481436 M 14 0 1 ATAD3B HG02106 nsv3320383 1 1415725 1415813 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489812 M 14 0 1 ATAD3B HG02818 esv3577678 1 1415848 1429151 CNV loss Uddin_et_al_2014 25503493 SNP array essv9782199 M 873 0 1 ATAD3B 401869BG nsv3319925 1 1415916 1416205 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487203 M 14 0 1 ATAD3B HG02818 nsv4036315 1 1416000 1432000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848831 M 10847 0 1 ATAD3B nsv4043817 1 1416850 1434250 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962563 M 10847 1 0 ATAD3B nsv3320151 1 1417316 1417366 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475796 M 14 0 1 ATAD3B HG00268 esv3663704 1 1418556 1418556 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486537 M 20 1 0 ATAD3B nsv4571638 1 1419180 1419181 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027157 M 10847 1 0 ATAD3B esv3585000 1 1424924 1462190 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840821 M 2504 0 1 ATAD3A,ATAD3B HG02648 nsv4536337 1 1424959 1424960 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025260 M 10847 1 0 ATAD3B nsv3320396 1 1424960 1424960 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483658 M 14 1 0 ATAD3B NA19434 nsv4052011 1 1424985 1425598 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848857 M 10847 0 1 ATAD3B nsv4051835 1 1426318 1426853 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848867 M 10847 0 1 ATAD3B nsv4518157 1 1428888 1438547 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962573 M 10847 1 0 ATAD3B nsv4033161 1 1429100 1429806 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848877 M 10847 0 1 ATAD3B nsv4051453 1 1429631 1430103 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962584 M 10847 1 0 ATAD3B nsv3320183 1 1429632 1429632 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472443 M 14 1 0 ATAD3B NA19240 nsv4040742 1 1429895 1430694 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848887 M 10847 0 1 ATAD3B nsv945744 1 1432368 1465586 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750702,nssv1750645,nssv1750624,nssv1750659,nssv1750621,nssv1750711,nssv1750623,nssv1750665,nssv1750625,nssv1750710,nssv1750696,nssv1750682,nssv1750634,nssv1750714,nssv1750620,nssv1750657,nssv1750611,nssv1750649,nssv1750697,nssv1750680,nssv1750694,nssv1750647,nssv1750636,nssv1750705,nssv1750698,nssv1750676,nssv1750701,nssv1750663,nssv1750703,nssv1750653,nssv1750615,nssv1750660,nssv1750617,nssv1750715,nssv1750612,nssv1750675,nssv1750613,nssv1750643,nssv1750641,nssv1750638,nssv1750699,nssv1750656,nssv1750626,nssv1750713,nssv1750627,nssv1750664,nssv1750616,nssv1750648,nssv1750614,nssv1750637,nssv1750632,nssv1750693,nssv1750633,nssv1750689,nssv1750622,nssv1750688,nssv1750704,nssv1750654,nssv1750619,nssv1750679,nssv1750642,nssv1750674,nssv1750630,nssv1750670,nssv1750628,nssv1750686,nssv1750700,nssv1750681,nssv1750631,nssv1750709,nssv1750644,nssv1750610,nssv1750650,nssv1750708,nssv1750661,nssv1750652,nssv1750685,nssv1750677,nssv1750669,nssv1750687,nssv1750655,nssv1750635,nssv1750672,nssv1750639,nssv1750692,nssv1750691,nssv1750671,nssv1750716,nssv1750678,nssv1750646,nssv1750690,nssv1750712,nssv1750666,nssv1750658,nssv1750683,nssv1750668,nssv1750667 M 97 10 0 ATAD3A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4041399 1 1433021 1435660 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848897 M 10847 0 1 "" dgv8n166 1 1434478 1434634 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4050897,nsv4033861 M 10847 0 2 "" nsv4040477 1 1434604 1435565 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962591 M 10847 1 0 "" esv3674612 1 1437033 1437034 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496354 M 20 0 0 "" esv3585001 1 1438168 1449503 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840827,essv9840826,essv9840825,essv9840824,essv9840823,essv9840822,essv9840828 M 2504 0 7 ATAD3A HG00125,HG00146,HG01390,HG02648,HG03117,HG03460,HG03697 nsv4042037 1 1439015 1451485 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961193 M 10847 1 0 ATAD3A nsv4042187 1 1441315 1443826 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848746 M 10847 0 1 "" esv3585002 1 1441334 1443842 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840831,essv9840829,essv9840830,essv9840834,essv9840833,essv9840832,essv9840835 M 2504 0 7 "" HG00125,HG00146,HG01390,HG02648,HG02804,HG03117,HG03697 esv3585003 1 1443538 1445747 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840840,essv9840857,essv9840890,essv9840839,essv9840838,essv9840836,essv9840837,essv9840856,essv9840847,essv9840842,essv9840841,essv9840846,essv9840843,essv9840845,essv9840844,essv9840850,essv9840855,essv9840849,essv9840848,essv9840854,essv9840851,essv9840853,essv9840852,essv9840872,essv9840863,essv9840889,essv9840862,essv9840859,essv9840858,essv9840861,essv9840860,essv9840866,essv9840871,essv9840865,essv9840864,essv9840870,essv9840867,essv9840869,essv9840868,essv9840874,essv9840888,essv9840879,essv9840873,essv9840875,essv9840878,essv9840877,essv9840876,essv9840887,essv9840882,essv9840881,essv9840880,essv9840883,essv9840886,essv9840885,essv9840884,essv9840895,essv9840904,essv9840921,essv9840894,essv9840891,essv9840893,essv9840892,essv9840903,essv9840898,essv9840897,essv9840896,essv9840902,essv9840899,essv9840901,essv9840900,essv9840906,essv9840920,essv9840911,essv9840905,essv9840910,essv9840907,essv9840908,essv9840909,essv9840914,essv9840919,essv9840913,essv9840912,essv9840918,essv9840915,essv9840917,essv9840916,essv9840927,essv9840923,essv9840936,essv9840922,essv9840926,essv9840925,essv9840924,essv9840928,essv9840935,essv9840930,essv9840929,essv9840931,essv9840934,essv9840932,essv9840933,essv9840938,essv9840943,essv9840937,essv9840942,essv9840939,essv9840941,essv9840940 M 2504 0 108 "" HG00146,HG01075,HG01082,HG01108,HG01140,HG01269,HG01271,HG01360,HG01390,HG01443,HG01956,HG01958,HG02053,HG02337,HG02420,HG02455,HG02484,HG02489,HG02580,HG02583,HG02588,HG02620,HG02642,HG02648,HG02678,HG02772,HG02807,HG02851,HG02854,HG02879,HG02938,HG02968,HG02971,HG02973,HG03055,HG03085,HG03095,HG03112,HG03117,HG03120,HG03127,HG03129,HG03130,HG03162,HG03166,HG03169,HG03224,HG03270,HG03271,HG03297,HG03301,HG03303,HG03372,HG03428,HG03439,HG03442,HG03460,HG03499,HG03567,HG03697,NA18486,NA18488,NA18499,NA18505,NA18516,NA18517,NA18923,NA18939,NA19020,NA19028,NA19031,NA19093,NA19117,NA19130,NA19131,NA19138,NA19141,NA19146,NA19159,NA19175,NA19185,NA19247,NA19315,NA19317,NA19318,NA19327,NA19328,NA19351,NA19374,NA19376,NA19384,NA19390,NA19395,NA19429,NA19430,NA19435,NA19446,NA19449,NA19454,NA19456,NA19467,NA19474,NA19701,NA20126,NA20294,NA20348,NA20351,NA20356 esv2659109 1 1443563 1445764 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6274829,essv5405437,essv5950686,essv5627421,essv6135295,essv5716610,essv6427354,essv5626254,essv6564617,essv5685136,essv6068180,essv6588406,essv5885089,essv6148352,essv6056791,essv6161076,essv5913103,essv6474698,essv6107643,essv6343375,essv5958348 M 1151 0 21 "" HG01075,HG01082,HG01108,HG01140,NA19130,NA19313,NA19315,NA19317,NA19371,NA19374,NA19376,NA19381,NA19384,NA19390,NA19395,NA19429,NA19444,NA19446,NA19449,NA19467,NA19701 nsv4047782 1 1443566 1445764 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848757 M 10847 0 1 "" nsv821809 1 1443968 1447519 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1428013 M 31 1 0 "" AK10 nsv821920 1 1443968 1463826 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440791 M 31 1 0 ATAD3A NA18969 nsv4038047 1 1446062 1452316 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961203 M 10847 1 0 ATAD3A esv3663857 1 1446186 1446186 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486675 M 20 1 0 "" nsv482157 1 1447555 1470064 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558518 M 1 1 0 ATAD3A KB1 esv3663926 1 1452214 1452214 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486737 M 20 1 0 ATAD3A nsv1074453 1 1465910 1466230 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767539 M 1 0 1 ATAD3A KWP1 esv2658581 1 1465911 1466230 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5482830,essv5858092,essv5732240,essv5816004,essv5480416,essv6488077,essv5609173,essv5997694,essv5712611,essv5825216,essv5722394,essv6391429,essv5723953,essv6391818,essv5673467,essv6471708,essv5630193,essv6133414,essv5451520,essv6005572,essv5538350,essv5965350,essv5568689,essv6395439,essv5441861,essv6396485,essv5507419,essv6397483,essv5702197,essv6399190,essv5493577,essv5963869,essv5481540,essv5969045,essv5688132,essv6279719,essv5396313,essv6290555,essv5670867,essv5939453,essv5527150,essv6404248,essv5677732,essv6108372,essv5580450,essv5922774,essv5672669,essv6011467,essv5401002,essv6410581,essv5675590,essv6469356,essv5700240,essv5885037,essv5641125,essv6072390,essv5489541,essv6416002,essv5413690,essv6058176,essv5456443,essv6205353,essv5418392,essv6194183,essv5414131,essv6419027,essv5553146,essv6079796,essv5683825,essv5834945,essv5641262,essv5800780,essv5724642,essv6500668,essv5643959,essv6113627,essv5528890,essv6425592,essv5551173,essv6142004,essv5616806,essv6425893,essv5707419,essv6086199,essv5588497,essv6482893,essv5522114,essv5855505,essv5463872,essv6130279,essv5671787,essv6430631,essv5476828,essv6432025,essv5555363,essv6432023,essv5738072,essv6246072,essv5439542,essv5985570,essv5597594,essv5812123,essv5415672,essv6199770,essv5599977,essv6435646,essv5456023,essv5813001,essv5747726,essv6191951,essv5488378,essv5807425,essv5612794,essv5959211,essv5679637,essv6443605,essv5635976,essv6445387,essv5633943,essv5868543,essv5492724,essv6539627,essv5598870,essv5923966,essv5614655,essv5762497,essv5650442,essv6450209,essv5531638,essv6093191,essv5701080,essv6452456,essv5692049,essv5899920,essv5597132,essv6548233,essv5554792,essv5991250,essv5484338,essv5994443,essv5541808,essv6186597,essv5745074,essv6066088,essv5609533,essv6072748,essv5640187,essv6140657,essv5648702,essv6122795,essv5712435,essv6161424,essv5404027,essv6479147,essv5497478,essv6117756,essv5403407,essv5972124,essv5527698,essv6063579,essv5714389,essv5959060,essv5578213,essv6279475,essv5484376,essv5866453,essv5631905,essv6044419,essv5553769,essv5806292,essv5694863,essv5998119,essv5520380,essv6300044,essv5749533,essv5787953,essv5723921,essv6027434,essv5557211,essv6035940,essv5594774,essv6059203,essv5678946,essv6231944,essv5628239,essv5993427,essv5601026,essv6302686,essv5628085,essv5882887,essv5650338,essv6225800,essv5451411,essv6181341,essv5623987,essv5820972,essv5416971,essv6307412,essv5604347,essv6244691,essv5471316,essv6279148,essv5458146,essv5891209,essv5482099,essv6531665,essv5631465,essv6518177,essv5698039,essv6211165,essv5453253,essv6078561,essv5457645,essv6287490,essv5442733,essv5851382,essv5501254,essv6317076,essv5676860,essv6317091,essv5690141,essv6318757,essv6598371,essv6226627,essv6586974,essv6469707,essv6585173,essv6265122,essv6581596,essv6212988,essv6577184,essv5974677,essv6589722,essv5794862,essv6596805,essv5954013,essv6324178,essv5813678,essv5932490,essv5931672,essv6178089,essv5940742,essv6497970,essv6326756,essv6011613,essv6211568,essv6287869,essv6519435,essv5855205,essv6465710,essv6258489,essv5990101,essv6042582,essv6241924,essv5993762,essv6042587,essv6494184,essv6520422,essv5959326,essv6185820,essv5901561,essv6197366,essv5831383,essv5951084,essv6199429,essv6337906,essv6339707,essv6040829,essv5951132,essv5989514,essv6343716,essv6344023,essv6186717,essv5937129,essv6281476,essv5821996,essv5766335,essv6518871,essv6239221,essv6553516,essv5812650,essv6347709,essv6175237,essv6191601,essv5883171,essv6234765,essv6129291,essv6523508,essv6103904,essv5786024,essv6053094,essv6464835,essv5978467,essv6221054,essv6513074,essv6457568,essv5939784,essv6357829,essv6228720,essv6474611,essv5920966,essv6361569,essv6032109,essv5799072,essv6240991,essv6197313,essv5991070,essv5965280,essv5884375,essv6273412,essv6134604,essv5801413,essv6510252,essv6367525,essv6367867,essv5803216,essv6131969,essv6156669,essv6479552,essv5773997,essv5878788,essv6214095,essv6086549,essv6172914,essv6154431,essv5871753,essv6204344,essv6028335,essv6175357,essv5870848,essv6247281,essv5979075,essv6266096,essv6554091,essv6224876,essv6069039,essv6154276,essv6012078,essv5928241,essv5886508,essv6286765,essv6146300,essv5965335,essv6247479,essv5780437 M 1151 0 345 ATAD3A HG00114,HG00187,HG00239,HG00250,HG00259,HG00268,HG00281,HG00313,HG00318,HG00323,HG00329,HG00346,HG00353,HG00361,HG00375,HG00418,HG00419,HG00422,HG00437,HG00448,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00542,HG00543,HG00556,HG00560,HG00577,HG00578,HG00581,HG00584,HG00589,HG00590,HG00595,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00625,HG00628,HG00629,HG00635,HG00650,HG00653,HG00656,HG00657,HG00671,HG00672,HG00684,HG00689,HG00690,HG00698,HG00701,HG00702,HG00705,HG00707,HG00708,HG00740,HG01055,HG01060,HG01066,HG01067,HG01069,HG01073,HG01075,HG01079,HG01082,HG01102,HG01108,HG01125,HG01140,HG01170,HG01171,HG01342,HG01378,HG01462,HG01488,HG01492,NA07051,NA12716,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18534,NA18536,NA18538,NA18542,NA18545,NA18548,NA18549,NA18550,NA18555,NA18559,NA18560,NA18561,NA18562,NA18563,NA18570,NA18571,NA18573,NA18576,NA18577,NA18592,NA18595,NA18599,NA18606,NA18608,NA18610,NA18612,NA18615,NA18616,NA18623,NA18632,NA18633,NA18636,NA18638,NA18853,NA18856,NA18858,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18912,NA18916,NA18917,NA18923,NA18924,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18963,NA18964,NA18965,NA18968,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA18982,NA18983,NA18984,NA18988,NA18989,NA18999,NA19000,NA19002,NA19003,NA19005,NA19009,NA19010,NA19054,NA19057,NA19058,NA19060,NA19062,NA19064,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19087,NA19088,NA19093,NA19098,NA19099,NA19102,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19131,NA19137,NA19138,NA19144,NA19147,NA19153,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19204,NA19207,NA19209,NA19213,NA19223,NA19225,NA19235,NA19236,NA19238,NA19239,NA19247,NA19257,NA19311,NA19312,NA19313,NA19328,NA19332,NA19346,NA19350,NA19355,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19401,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19437,NA19438,NA19440,NA19443,NA19445,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19625,NA19663,NA19676,NA19682,NA19700,NA19701,NA19704,NA19711,NA19712,NA19720,NA19818,NA19819,NA19901,NA19916,NA19920,NA19921,NA20127,NA20276,NA20289,NA20294,NA20299,NA20341,NA20348,NA20815 esv3549676 1 1465911 1466268 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9748423 M 767 0 1 ATAD3A nsv3319980 1 1465913 1466231 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14490644,nssv14475723,nssv14482899,nssv14491831 M 14 0 4 ATAD3A HG00268,HG00514,HG02059,NA19434 nsv4319019 1 1468904 1469444 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789111 M 10847 0 0 ATAD3A esv3418946 1 1472989 1473987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691939 M 185 1 0 TMEM240 NA19239 nsv1130940 1 1475300 1476100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980312,nssv3966616 M 2 0 2 TMEM240 KWS1,KWS2 nsv4046324 1 1476227 1476951 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849330 M 10847 0 1 "" nsv3319986 1 1478995 1478995 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484215 M 14 1 0 SSU72 HG04217 esv3682739 1 1479007 1479106 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467541 M 20 0 1 SSU72 nsv3320450 1 1479056 1479056 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475575 M 14 1 0 SSU72 HG04217 nsv3320639 1 1479106 1479106 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482526,nssv14491217,nssv14488305,nssv14476114,nssv14487853,nssv14479976,nssv14482386,nssv14481992,nssv14483861,nssv14483875 M 14 10 0 SSU72 CHM1,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HX1,NA19240,NA19434 esv1301718 1 1479107 1479107 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3821253 M 2 1 0 SSU72 HuRef nsv4035425 1 1480415 1489068 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849337 M 10847 0 1 SSU72 nsv4042175 1 1480482 1481160 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961228 M 10847 1 0 SSU72 nsv4537906 1 1482283 1482284 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027278 M 10847 1 0 SSU72 nsv3320216 1 1482284 1482284 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14474754,nssv14475437,nssv14481849 M 14 3 0 SSU72 HG00268,HG02106,HG04217 nsv4040208 1 1488790 1489565 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849346 M 10847 0 1 SSU72 nsv4036425 1 1495340 1514911 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961246 M 10847 1 0 SSU72 esv2675022 1 1495577 1495857 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5557225 M 1151 0 1 SSU72 NA18973 nsv472762 1 1496605 1496605 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015897 M 9 1 0 SSU72 NA18555 esv2760410 1 1500941 1687687 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 1501009 1501009 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3572228 M 3 1 0 SSU72 HuRef nsv1125447 1 1501010 1501107 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983620 M 2 1 0 SSU72 KWS2 nsv3320653 1 1501061 1501061 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484743,nssv14477789,nssv14482378,nssv14483784,nssv14476442,nssv14481993,nssv14490577,nssv14476166,nssv14476475,nssv14474911,nssv14472197,nssv14480948 M 14 12 0 SSU72 CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv1160797 1 1501596 1737357 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026767 M 369 1 0 C1orf233,CDK11A,CDK11B,GNB1,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 nsv4041974 1 1504143 1507696 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961256 M 10847 1 0 SSU72 dgv8n100 1 1504729 1672591 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011271,nsv1002038 M 29084 0 6 C1orf233,CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2,SLC35E2B,SSU72 nsv4568204 1 1507507 1507508 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026250 M 10847 1 0 SSU72 esv3664070 1 1508647 1508647 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486867 M 20 1 0 SSU72 dgv5n111 1 1510801 1754842 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nsv1160853,nsv1160836,nsv1160837 M 369 0 4 C1orf233,CDK11A,CDK11B,GNB1,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B nsv4035213 1 1519121 1520990 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849365 M 10847 0 1 "" nsv4049428 1 1519457 1520097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849375 M 10847 0 1 "" esv3585005 1 1519512 1520127 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840956,essv9840955,essv9840954,essv9840953,essv9840952,essv9840951,essv9840947,essv9840950,essv9840949,essv9840948,essv9840959,essv9840958,essv9840957 M 2504 0 13 "" HG01241,HG02281,HG02315,HG02614,HG02860,HG02981,HG03118,HG03388,HG03391,HG03499,HG03567,NA19184,NA20294 dgv9n166 1 1519703 1526682 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4050771,nsv4045479 M 10847 2 0 "" esv3664115 1 1520057 1520057 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486907 M 20 1 0 "" nsv4517557 1 1520076 1520833 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963419 M 10847 1 0 "" nsv4046879 1 1522590 1523027 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849401 M 10847 0 1 "" esv2677356 1 1522874 1524670 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6471016,essv6133147,essv6444599,essv5934228,essv6564666,essv5993482 M 1151 0 6 "" NA18871,NA19338,NA19382,NA19428,NA19457,NA19834 esv3585006 1 1522876 1524674 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840985,essv9840968,essv9840962,essv9840967,essv9840961,essv9840960,essv9840963,essv9840966,essv9840964,essv9840965,essv9840970,essv9840984,essv9840975,essv9840969,essv9840974,essv9840971,essv9840973,essv9840972,essv9840978,essv9840983,essv9840977,essv9840976,essv9840979,essv9840982,essv9840981,essv9840980,essv9840986,essv9840987,essv9840988 M 2504 0 29 "" HG01912,HG01958,HG02318,HG02420,HG02489,HG02944,HG03133,HG03162,HG03190,HG03198,HG03268,HG03300,HG03478,HG03583,NA18853,NA18871,NA19041,NA19172,NA19184,NA19210,NA19225,NA19319,NA19338,NA19428,NA19457,NA19834,NA20291,NA20348,NA20412 dgv12n106 1 1530300 1532700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1128582,nsv1139465 M 2 2 0 "" KWS1,KWS2 nsv1129453 1 1530407 1530493 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962906 M 2 1 0 "" KWS1 nsv3320478 1 1530454 1530454 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473417 M 14 1 0 "" HG00514 nsv3320479 1 1530606 1530606 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484726,nssv14475101,nssv14476504 M 14 3 0 "" HG00514,HG02106,NA19434 nsv3320020 1 1530645 1530645 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476679,nssv14488284,nssv14482737 M 14 3 0 "" HG00514,HG02106,NA19434 nsv3320021 1 1530677 1530677 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483999,nssv14478710 M 14 2 0 "" HG02106,NA19434 nsv3320022 1 1530681 1530734 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476570 M 14 0 1 "" HG00514 nsv4033803 1 1530911 1531396 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963458 M 10847 1 0 "" nsv1120183 1 1531166 1531250 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960945 M 2 1 0 "" KWS1 nsv3320671 1 1531188 1531259 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489746,nssv14475598 M 14 0 2 "" HG00514,HG02106 nsv1074046 1 1531211 1531284 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772640 M 1 0 1 "" KWP1 nsv1145305 1 1531212 1531284 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982396 M 2 0 1 "" KWS1 nsv1146684 1 1531277 1531343 CNV deletion John_et_al_2014 26484159 Sequencing nssv3995837 M 1 0 1 "" KWB1 nsv1124151 1 1531279 1531377 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975464 M 2 0 1 "" KWS1 nsv4052068 1 1531441 1531650 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850568 M 10847 0 1 "" nsv4046643 1 1532169 1532237 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963469 M 10847 1 0 "" nsv4044142 1 1532860 1532914 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850576 M 10847 0 1 "" nsv1073621 1 1534999 1535600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762015 M 1 0 1 C1orf233 KWP1 nsv1136056 1 1535100 1535700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989661 M 2 0 1 C1orf233 KWS2 nsv3321106 1 1540841 1540920 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472228 M 14 0 1 "" NA12878 esv998174 1 1540850 1541970 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586347 M 3 1 0 "" HuRef nsv3320672 1 1540897 1540897 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473002,nssv14472774,nssv14487864,nssv14476732,nssv14490499,nssv14490640,nssv14487495,nssv14476695 M 14 8 0 "" CHM1,HG00268,HG00733,HG02059,HG02106,HG02818,NA19240,NA19434 esv23829 1 1540930 1541970 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15071 M 40 0 3 "" NA12006,NA12878,NA18916 esv3667469 1 1540941 1541593 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489926 M 20 0 0 "" esv2664117 1 1540947 1541600 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5671411,essv6407996,essv5826421,essv6246700,essv5766633,essv6453826,essv5409593,essv6200524,essv5498105,essv6261630,essv5415315,essv6301888,essv5691331,essv6301960,essv5527257,essv6316405,essv5732359,essv5918885,essv5624349,essv6084310,essv5732358,essv6282969,essv5565288,essv6215815,essv5828149,essv6205705,essv5449664,essv5979406,essv5526959,essv5931089,essv5530409,essv6255187,essv5661906,essv6488100,essv5517798,essv6532687,essv5401529,essv6222802,essv5622631,essv6139546,essv5464342,essv5923859,essv5451145,essv6205041,essv5717982,essv6574638,essv5842142,essv5984908,essv5792790,essv6285256,essv5998151,essv5872095,essv5966263 M 1151 0 53 "" HG00100,HG00118,HG00131,HG00160,HG00187,HG00232,HG00251,HG00268,HG00269,HG00310,HG00312,HG00320,HG00329,HG00344,HG00372,HG00436,HG00613,HG00640,HG00734,HG00737,HG01069,HG01070,HG01073,HG01095,HG01101,HG01107,HG01125,HG01133,HG01365,HG01390,HG01441,HG01515,HG01521,NA11829,NA11830,NA11930,NA11933,NA12043,NA12347,NA12748,NA18519,NA18593,NA18637,NA18987,NA19434,NA19443,NA20340,NA20344,NA20516,NA20530,NA20539,NA20769,NA20800 dgv35n54 1 1540957 1541589 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545012,nsv545011 M 17421 2 0 "" dgv36n54 1 1540957 1541872 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545016,nsv545015,nsv545013,nsv545014 M 17421 5 0 "" nsv3320025 1 1540976 1540976 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486578,nssv14482003 M 14 2 0 "" HG02818,NA19434 nsv3321107 1 1541063 1541063 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484044 M 14 1 0 "" HG02818 nsv3320026 1 1541068 1541068 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480148 M 14 1 0 "" NA19434 nsv3321108 1 1541295 1541295 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490637 M 14 1 0 "" NA12878 nsv3320028 1 1541333 1541407 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490698 M 14 0 1 "" NA12878 nsv4458953 1 1542220 1542221 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026333 M 10847 1 0 "" nsv4049302 1 1544261 1545199 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850594 M 10847 0 1 "" nsv545017 1 1550702 1595198 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708604 M 17421 0 1 CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B nsv1074054 1 1551199 1551700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762868 M 1 0 1 MIB2 KWP1 nsv822031 1 1552632 1553336 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434858 M 31 0 1 MIB2 NA18942 esv3575582 1 1559466 1652775 CNV gain Uddin_et_al_2014 25503493 SNP array essv9783310 M 873 1 0 CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B 401443JK esv2661270 1 1560745 1571392 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5937538,essv5597414,essv6507928,essv5665738,essv6412490,essv5468288,essv6414757,essv5628348,essv6263804,essv5395845,essv5949761,essv5605080,essv6184775,essv5714079,essv6428230,essv5789412,essv6113138,essv5791495,essv6485645,essv5603865,essv6488862,essv5485712,essv6071888,essv5613721,essv6260213,essv5786512,essv6126898,essv5712261,essv6036632,essv5609560,essv5954824,essv5653363,essv6130761,essv5475531,essv6475633,essv5593315,essv6249390,essv5422893,essv5975210,essv5625476,essv6571513,essv5643096,essv6548334,essv5530709,essv5984077,essv5413048,essv6312198,essv5573107,essv6182156,essv5639379,essv6315048,essv5426813,essv5824569,essv5653921,essv6328148,essv5760634,essv6021583,essv5738802,essv6334615,essv5539470,essv6335638,essv5619505,essv5839359,essv6468817,essv6022491,essv5850341,essv6211219,essv5920723,essv6141404,essv6342848,essv6489635,essv6126633,essv6099313,essv6261109,essv5858500,essv6010091,essv5909524,essv6363404,essv6505176,essv6059373,essv5815876,essv5845328,essv5928230,essv5858849,essv6217076,essv6569672 M 1151 0 86 CDK11B,MIB2,MMP23A,MMP23B HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00560,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708 nsv3320688 1 1562819 1562869 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487899 M 14 0 1 MIB2 NA19240 esv2659399 1 1564645 1568392 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6594060,essv6584669,essv6594591,essv6122711,essv5456241,essv5840257,essv5564875,essv6171576,essv5480951,essv5975812,essv5447867,essv6392787,essv5576454,essv6398734,essv5608365,essv6176711,essv5484770,essv5825844,essv5603576,essv6403318,essv5764969,essv5838204,essv5751221,essv6198417,essv5556717,essv6077960,essv5501015,essv6062074,essv5438654,essv5922663,essv5659326,essv6416354,essv5607117,essv6421253,essv5555449,essv6105270,essv5744271,essv5973783,essv5645061,essv6445131,essv5555203,essv6445395,essv5412961,essv6451693,essv5505835,essv6068528,essv5502383,essv6271528,essv5504308,essv5932031,essv5730259,essv5994453,essv5475895,essv5845711,essv5676911,essv5910205,essv5430682,essv5789042,essv5563905,essv6261648,essv5437332,essv6299341,essv5679080,essv6543940,essv5750344,essv6210581,essv5640105,essv5814571,essv5552407,essv6498962,essv5597251,essv6182143,essv5447705,essv6130105,essv6162221,essv6531938,essv6316185,essv5792291,essv5975899,essv6489895,essv6498815,essv6043598,essv6216510,essv6057050,essv6019147,essv5792913,essv5799184,essv5917107,essv6506220,essv6325181,essv5966500,essv5967186,essv5777807,essv6256437,essv6483495,essv6334883,essv5770643,essv6335420,essv6057704,essv6210050,essv6130371,essv5844422,essv5792798,essv6344659,essv6175240,essv6540194,essv6014074,essv6583165,essv6052102,essv6214922,essv6527817,essv5903313,essv6468550,essv6363277,essv5938443,essv6365130,essv6051974,essv5971515,essv5906768,essv6547669,essv5826361,essv5909662,essv5847408,essv6373554,essv6008653,essv5788822,essv5992909,essv6185128,essv5947235,essv5970937 M 1151 0 130 MIB2,MMP23A,MMP23B HG00106,HG00108,HG00111,HG00114,HG00116,HG00117,HG00118,HG00119,HG00120,HG00122,HG00123,HG00124,HG00125,HG00126,HG00131,HG00136,HG00137,HG00138,HG00139,HG00140,HG00146,HG00148,HG00149,HG00150,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00174,HG00176,HG00177,HG00178,HG00180,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00189,HG00190,HG00231,HG00232,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00329,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00372,HG00375,HG00377,HG01334 nsv1074993 1 1564999 1566500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764195 M 1 0 1 MIB2 KWP1 nsv1136057 1 1565000 1565700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989662 M 2 0 1 MIB2 KWS2 esv27786 1 1567881 1683706 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17198 M 40 1 0 CDK11A,CDK11B,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B NA12828 nsv1118425 1 1571000 1583600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958931 M 2 1 0 CDK11B KWS1 nsv545018 1 1573861 1619541 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708605 M 17421 0 1 CDK11B,SLC35E2B nsv1073627 1 1574099 1575400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764549 M 1 0 1 CDK11B KWP1 nsv1075361 1 1575399 1584500 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762885 M 1 1 0 CDK11B KWP1 nsv1139466 1 1575800 1584500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977053 M 2 1 0 CDK11B KWS2 nsv4561006 1 1578577 1578578 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027972 M 10847 1 0 CDK11B nsv4570767 1 1578589 1578590 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026903 M 10847 1 0 CDK11B esv3390461 1 1581089 1583487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691995 M 185 1 0 CDK11B NA12878 esv3585007 1 1582548 1645946 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840990,essv9840989 M 2504 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B HG01806,HG03634 nsv4044105 1 1583000 1592850 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963522 M 10847 1 0 CDK11B dgv2e199 1 1583664 1653329 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2659357,esv2670087 M 1151 0 3 CDK11A,CDK11B,MMP23A,SLC35E2B HG01354,NA12400,NA18982 esv3550788 1 1584529 1657787 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749535 M 767 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B esv1336011 1 1584546 1584546 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4160103 M 2 1 0 CDK11B HuRef dgv3n67 1 1585374 1667157 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv822253,nsv822142,nsv822364 M 31 3 0 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA18542,NA18566,NA18582 nsv4459152 1 1586603 1586604 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026991 M 10847 1 0 CDK11B nsv4534192 1 1588035 1588036 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027084 M 10847 1 0 CDK11B nsv947410 1 1588534 1595266 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761730,nssv2760684,nssv2765284,nssv2766296,nssv2758644,nssv2762239,nssv2763764,nssv2764181,nssv2765500,nssv2759096 M 97 9 0 CDK11B,SLC35E2B HGDP00456,HGDP00521,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4049421 1 1588600 1634000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963528 M 10847 1 0 CDK11B,MMP23A,SLC35E2B dgv10n166 1 1592521 1625491 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4032883,nsv4517775 M 10847 0 2 CDK11B,SLC35E2B nsv950516 1 1594601 1647400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997170 M 1 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B BILGI_BIOE dgv37n54 1 1595198 1627987 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545019,nsv545025,nsv545023,nsv545024 M 17421 0 4 CDK11B,SLC35E2B dgv38n54 1 1595198 1644908 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545020,nsv545021 M 17421 3 0 CDK11A,CDK11B,MMP23A,SLC35E2B esv3585008 1 1595368 1612441 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840991,essv9840994,essv9840999,essv9840993,essv9840992,essv9840995,essv9840998,essv9840997,essv9840996 M 2504 0 9 CDK11B,SLC35E2B HG00320,HG01806,HG01840,HG01892,HG02236,HG02399,HG03611,HG03634,NA19327 esv3585009 1 1595368 1612441 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841018,essv9841017,essv9841000,essv9841002,essv9841016,essv9841007,essv9841001,essv9841006,essv9841003,essv9841005,essv9841004,essv9841010,essv9841015,essv9841009,essv9841008,essv9841011,essv9841014,essv9841013,essv9841012,essv9841023,essv9841022,essv9841020,essv9841019,essv9841021,essv9841024 M 2504 25 0 CDK11B,SLC35E2B HG00116,HG00237,HG00608,HG00614,HG00641,HG00766,HG01174,HG01204,HG01577,HG01801,HG01810,HG01812,HG01878,HG02010,HG02052,HG02190,HG02224,HG03833,HG03885,NA18542,NA18566,NA18582,NA19723,NA20819,NA20866 nsv545022 1 1597020 1615348 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708610 M 17421 0 1 CDK11B,SLC35E2B esv2677252 1 1598413 1598580 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6378933,essv6224571,essv6551932,essv5509573,essv6384137,essv5455494,essv6227801,essv5754690,essv6386927,essv6121292,essv6388925,essv5787293,essv6391091,essv6189725,essv6393332,essv5396149,essv6253580,essv5655572,essv6576524,essv5447734,essv6399211,essv5799767,essv6518958,essv6173906,essv6401653,essv5838836,essv6402388,essv5829153,essv6466973,essv5611680,essv6407375,essv6171148,essv6259259,essv5641442,essv6583639,essv5780450,essv6466279,essv5906954,essv6544194,essv5414259,essv6492092,essv6144567,essv6476219,essv6097410,essv6280162,essv5848961,essv6421976,essv5922773,essv6425099,essv5824439,essv6426837,essv5737014,essv6432484,essv5674970,essv6486017,essv6207868,essv6439886,essv5785569,essv6441883,essv6031567,essv6443823,essv5727829,essv6452841,essv5472448,essv6507581,essv5857413,essv6454923,essv5510878,essv6455345,essv6063237,essv6483119,essv5711296,essv6294300,essv5967632,essv6245122,essv5719551,essv6531138,essv5990978,essv6469104,essv5724902,essv6530838,essv5576928,essv6506618,essv5755734,essv6561401,essv5512851,essv6298538,essv5612605,essv6517435,essv5779054,essv6300192,essv6009097,essv6280940,essv5528195,essv6245168,essv6072716,essv6259863,essv6067300,essv6303979,essv6076421,essv6511413,essv6127498,essv6523892,essv5998842,essv6304603,essv5998608,essv6253254,essv5517953,essv6264563,essv5457314,essv6583777,essv5401685,essv6533658,essv5855555,essv6277620,essv5397563,essv6311986,essv6094569,essv6477385,essv5594143,essv6506144,essv6160111,essv6231956,essv5808589,essv6247874,essv5861386,essv6524424,essv5597038,essv6325084,essv5732216,essv6518579,essv5817169,essv6326214,essv6040088,essv6327136,essv5637380,essv6461434,essv5753638,essv6241989,essv5926739,essv6573562,essv5803001,essv6329825,essv5979575,essv6275018,essv6010868,essv6547015,essv5958664,essv6579236,essv5550248,essv6592928,essv6019252,essv6475988,essv5524858,essv6520103,essv5519389,essv6255171,essv6112644,essv6468856,essv5778790,essv6338309,essv5414933,essv6534746,essv5783705,essv6475010,essv5406360,essv6463171,essv5728695,essv6547938,essv5813169,essv6587828,essv5505495,essv6523303,essv5396411,essv6534451,essv5952055,essv6280590,essv5955412,essv6348733,essv5850184,essv6256174,essv5448907,essv6283756,essv5530827,essv6235955,essv5999698,essv6513512,essv5663765,essv6351801,essv5931039,essv6582034,essv5856373,essv6579272,essv5909153,essv6352849,essv5949132,essv6228690,essv5570830,essv6353719,essv5629615,essv6457687,essv6082461,essv6458089,essv5908627,essv6354946,essv5918120,essv6488614,essv6210597,essv6357595,essv5448062,essv6496619,essv6145920,essv6359965,essv5410628,essv6360176,essv5526789,essv6362748,essv5609013,essv6363966,essv5465043,essv6505025,essv5466018,essv6488545,essv5677697,essv6503940,essv6089090,essv6579480,essv5726476,essv6369913,essv5572281,essv6484789,essv5435077,essv6582422,essv6078545,essv6480235,essv5677015,essv6374888,essv5585639,essv6560113,essv5983653,essv6481848,essv5824248,essv6577219,essv5681930,essv6377747,essv6055625,essv6377898,essv6089120,essv6254951,essv6057941,essv6306839,essv5465085,essv6249825,essv5977523,essv6308867,essv5507268,essv6468785,essv5715661,essv6380279,essv5752383,essv6548485,essv5671807,essv6528908,essv5675001,essv6385494,essv5881611,essv6237717,essv5580002,essv5598338,essv5918816,essv6167559,essv6029517,essv5796075,essv5789544,essv6221827,essv5794898,essv5703175,essv5714263,essv5827810,essv5741004,essv5471351,essv6119852,essv5824870,essv5595889,essv5686758,essv5627193,essv5586488,essv6000476,essv5454282,essv5965909,essv5539922,essv6131270,essv5558810,essv5560038,essv5690915,essv5816063,essv5778641,essv5491948,essv6121546,essv6045526,essv5459712,essv5945642,essv5742636,essv5971409,essv5913493,essv5873431,essv5443804,essv5709883,essv5913600,essv5423424,essv5706799,essv6163450,essv5636269,essv5521618,essv5560566,essv5798784,essv5890984,essv5659577,essv6059269,essv6028094,essv5842247,essv5490309,essv5577638,essv6162859,essv5974237,essv6154489,essv5876341,essv6085025,essv5902254,essv5452041,essv5503479,essv5971449,essv6111969,essv6044604,essv5621469,essv6064067,essv5882292,essv6033098,essv5532300,essv6070975,essv5517949,essv6162325,essv5660437,essv5743890,essv5719674,essv6134637,essv5682903,essv5495344,essv5841126,essv5795485,essv6163516,essv5664321,essv6195379,essv6210325,essv5769689,essv6142179,essv5517074,essv5865553,essv6003771,essv5509514,essv5852832,essv6110359,essv6148996,essv5630121,essv5453799,essv6049037,essv5415954,essv5551605,essv6143736,essv5471357,essv5639604,essv5411981,essv5796167,essv5999000,essv5983326,essv5570846,essv6212542,essv5800608,essv6183688,essv5525175,essv5799562,essv5922942,essv5818662,essv5729317,essv6219210,essv6174363,essv5713226,essv6196751,essv5624676,essv5592079,essv5796712,essv6127630,essv6144633,essv5652332,essv5670715,essv5680585,essv6120255,essv5611984,essv5875323,essv5587767,essv5625120,essv6080540,essv5814999,essv5432871,essv5555326,essv5480228,essv5869212,essv6063495,essv5554245,essv5598186,essv5751080,essv5443214,essv5974341,essv5730167,essv6205800,essv6127826,essv5669363,essv6101026,essv5540251,essv5895978,essv6096703,essv5758590,essv5725166,essv5416958,essv6063509,essv6201245,essv5632389,essv6126272,essv6059393,essv5607350,essv6092574,essv6079747,essv5472324,essv5994378,essv5806527,essv5685989,essv5511278,essv5669268,essv6037174,essv5964151,essv5465702,essv6100264,essv5505868,essv6219021,essv6024126,essv5995956,essv5680170,essv5701510 M 1151 0 448 CDK11B,SLC35E2B HG00096,HG00098,HG00100,HG00103,HG00106,HG00108,HG00111,HG00112,HG00114,HG00115,HG00116,HG00117,HG00118,HG00119,HG00120,HG00123,HG00124,HG00125,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00139,HG00140,HG00141,HG00142,HG00143,HG00144,HG00146,HG00148,HG00149,HG00150,HG00151,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00185,HG00186,HG00187,HG00188,HG00189,HG00190,HG00232,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00306,HG00308,HG00309,HG00310,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00329,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00369,HG00372,HG00373,HG00375,HG00377,HG00418,HG00419,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00449,HG00463,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00531,HG00536,HG00537,HG00542,HG00543,HG00553,HG00554,HG00581,HG00583,HG00584,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00640,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00684,HG00689,HG00692,HG00693,HG00699,HG00704,HG00705,HG00707,HG00708,HG00736,HG00740,HG01052,HG01055,HG01060,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01095,HG01101,HG01102,HG01107,HG01108,HG01124,HG01125,HG01134,HG01136,HG01137,HG01140,HG01148,HG01170,HG01171,HG01173,HG01174,HG01187,HG01188,HG01250,HG01251,HG01253,HG01334,HG01350,HG01351,HG01353,HG01356,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01383,HG01384,HG01389,HG01390,HG01455,HG01456,HG01462,HG01492,HG01515,NA07347,NA12154,NA12275,NA12342,NA12761,NA18499,NA18519,NA18520,NA18530,NA18534,NA18536,NA18542,NA18543,NA18544,NA18548,NA18549,NA18557,NA18559,NA18577,NA18582,NA18593,NA18595,NA18596,NA18597,NA18602,NA18606,NA18610,NA18613,NA18616,NA18617,NA18619,NA18622,NA18623,NA18632,NA18635,NA18636,NA18637,NA18933,NA18934,NA18963,NA18977,NA19000,NA19009,NA19072,NA19074,NA19082,NA19083,NA19084,NA19087,NA19223,NA19311,NA19312,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19456,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19700,NA19701,NA19703,NA19704,NA19707,NA19711,NA19712,NA19717,NA19749,NA19756,NA19759,NA19770,NA19774,NA19783,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19908,NA19909,NA19914,NA19916,NA19917,NA19920,NA19921,NA19982,NA19985,NA20126,NA20127,NA20276,NA20278,NA20281,NA20282,NA20287,NA20289,NA20291,NA20294,NA20296,NA20314,NA20317,NA20322,NA20332,NA20334,NA20336,NA20340,NA20341,NA20342,NA20344,NA20346,NA20348,NA20356,NA20506,NA20586,NA20819 esv3682962 1 1598413 1598581 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467742 M 20 0 1 CDK11B,SLC35E2B esv3551899 1 1598413 1598601 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9750646 M 767 0 1 CDK11B,SLC35E2B nsv3321337 1 1598415 1598581 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14489280,nssv14481126,nssv14484772,nssv14487343,nssv14482071,nssv14472790,nssv14472126,nssv14476483,nssv14476023,nssv14491757,nssv14490943,nssv14476671 M 14 0 12 CDK11B,SLC35E2B CHM1,HG00268,HG00514,HG00733,HG01352,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1758309 1 1598431 1598598 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3827771 M 2 0 1 CDK11B,SLC35E2B HuRef esv3585010 1 1601719 1682577 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841026,essv9841025,essv9841027 M 2504 0 3 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B HG02700,HG03858,NA19443 nsv545026 1 1602787 1638005 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708614 M 17421 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B nsv945745 1 1603369 1605663 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751673,nssv1751705,nssv1751655,nssv1751690,nssv1751654,nssv1751687,nssv1751676,nssv1751714,nssv1751663,nssv1751671,nssv1751672,nssv1751699,nssv1751728,nssv1751701,nssv1751726,nssv1751718,nssv1751729,nssv1751715,nssv1751666,nssv1751691,nssv1751656,nssv1751704,nssv1749111,nssv1749116,nssv1749113,nssv1751679,nssv1751662,nssv1749117,nssv1749112,nssv1751681,nssv1751647,nssv1751670,nssv1751727,nssv1749118,nssv1751668,nssv1751667,nssv1749109,nssv1751693,nssv1751731,nssv1751700,nssv1751659,nssv1751678,nssv1751651,nssv1751702,nssv1751646,nssv1751710,nssv1751648,nssv1751721,nssv1749110,nssv1751683,nssv1750719,nssv1751709,nssv1751650,nssv1751674,nssv1751657,nssv1751685,nssv1751644,nssv1751684,nssv1751649,nssv1749122,nssv1751652,nssv1751695,nssv1751665,nssv1749115,nssv1751661,nssv1751720,nssv1751660,nssv1751696,nssv1751658,nssv1751722,nssv1751645,nssv1751677,nssv1751716,nssv1751706,nssv1751725,nssv1751688,nssv1749114,nssv1751698,nssv1749123,nssv1751689,nssv1751703,nssv1749121,nssv1751711,nssv1751713,nssv1751682,nssv1750717,nssv1751692,nssv1751724,nssv1751712,nssv1751707,nssv1751669,nssv1751680,nssv1751723,nssv1751717,nssv1749120,nssv1751694,nssv1749119 M 97 10 0 CDK11B,SLC35E2B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4039071 1 1603558 1616459 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963539 M 10847 1 0 CDK11B,SLC35E2B esv3585011 1 1609210 1615827 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841032,essv9841031,essv9841030,essv9841029,essv9841028,essv9841034,essv9841039,essv9841033,essv9841038,essv9841035,essv9841037,essv9841036,essv9841042,essv9841041,essv9841040,essv9841043,essv9841044 M 2504 0 17 CDK11B,SLC35E2B HG01441,HG01806,HG01845,HG01855,HG01889,HG02057,HG02236,HG02399,HG02938,HG03052,HG03224,HG03279,HG03611,HG03634,NA18635,NA19327,NA20340 esv3585012 1 1609210 1615827 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841049,essv9841048,essv9841047,essv9841046,essv9841045,essv9841051,essv9841055,essv9841050,essv9841064,essv9841054,essv9841053,essv9841052,essv9841058,essv9841056,essv9841063,essv9841057,essv9841059,essv9841062,essv9841061,essv9841060,essv9841066,essv9841065,essv9841070,essv9841067,essv9841069,essv9841068 M 2504 26 0 CDK11B,SLC35E2B HG00116,HG00237,HG00614,HG00641,HG00766,HG01551,HG01577,HG01801,HG01810,HG01812,HG01878,HG02010,HG02052,HG02087,HG02190,HG02224,HG03833,HG03885,NA11995,NA18542,NA18566,NA18582,NA18957,NA19723,NA20819,NA20866 nsv3320919 1 1610997 1611302 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482247 M 14 0 1 CDK11B,SLC35E2B NA19434 esv3553010 1 1611009 1611326 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9751757 M 767 0 1 CDK11B,SLC35E2B nsv4051964 1 1612300 1620400 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962600 M 10847 1 0 CDK11B,SLC35E2B dgv16e59 1 1613289 1613587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3412710,esv3330776 M 185 2 0 CDK11B,SLC35E2B NA19239,NA19240 esv6099 1 1615214 1615401 CNV gain Ahn_et_al_2009 19470904 Sequencing essv28540 M 1 0 0 CDK11B,SLC35E2B esv3577686 1 1616990 1652775 CNV loss Uddin_et_al_2014 25503493 SNP array essv9784421 M 873 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B 400834SS dgv3e212 1 1616990 1687674 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577688,esv3577687,esv3577689,esv3577679,esv3577684,esv3577690,esv3577691,esv3577692,esv3577685,esv3577680,esv3577683,esv3577681 M 873 0 75 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B 400041LJ,400070PC,400076LC,400083TG,400094RS,400108BJ,400155CW,400156WT,400177CG,400178RH,400191MP,400199SA,400203NA,400227MM,400231LP,400248JO,400249BC,400294HD,400319HT,400376SJ,400383HL,400439IM,400458LS,400494ML,400501SJ,400502GS,400712GC,400739SS,400758KP,400821FE,400833BB,400920MK,400930MK,401005BL,401036WS,401067BD,401096SL,401102RD,401111LH,401113MJ,401250WD,401268PS,401274PA,401353BC,401386WA,401395OP,401414CR,401438HT,401444LD,401459HF,401465TB,401491BB,401540NA,401589HP,401592NR,401595BL,401612HB,401636WR,401640WJ,401664SD,401734PG,401735LE,401773AM,401841OB,401847RK,401855RE,401858TP,401860TJ,401894PD,401956DQ,401958MF,401979TB,402008MC,402009WP,402042BJ nsv545027 1 1619541 1664124 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708615,nssv708616 M 17421 0 2 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv4050020 1 1620692 1673945 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851593 M 10847 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B dgv39n54 1 1620861 1653672 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545028,nsv545029 M 17421 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B esv3891747 1 1620861 1682374 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25800672 M 3017 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv545030 1 1620861 1706136 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708619 M 17421 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B nsv4040154 1 1623000 1639500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851604 M 10847 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B nsv4034599 1 1624000 1629000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851612 M 10847 0 1 CDK11B,SLC35E2B nsv4046807 1 1624265 1624533 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851621 M 10847 0 1 CDK11B nsv4459313 1 1624327 1624328 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026935 M 10847 1 0 CDK11B nsv3320932 1 1625377 1626405 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474271 M 14 0 1 CDK11B HG02059 dgv2e214 1 1626665 1681048 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585014,esv3585013 M 2504 0 199 CDK11A,CDK11B,MMP23A,SLC35E2 HG00121,HG00155,HG00178,HG00250,HG00253,HG00259,HG00284,HG00310,HG00331,HG00336,HG00362,HG00365,HG00452,HG00479,HG00531,HG00557,HG00581,HG00596,HG00610,HG00637,HG00656,HG01064,HG01066,HG01111,HG01122,HG01139,HG01170,HG01182,HG01188,HG01190,HG01191,HG01242,HG01277,HG01281,HG01308,HG01354,HG01374,HG01375,HG01393,HG01396,HG01403,HG01431,HG01441,HG01500,HG01501,HG01524,HG01531,HG01551,HG01593,HG01603,HG01676,HG01702,HG01709,HG01757,HG01784,HG01790,HG01798,HG01840,HG01852,HG01889,HG01912,HG01936,HG02026,HG02053,HG02057,HG02060,HG02073,HG02128,HG02134,HG02165,HG02239,HG02282,HG02309,HG02330,HG02433,HG02490,HG02501,HG02558,HG02601,HG02700,HG02728,HG02837,HG02938,HG02952,HG02976,HG03052,HG03097,HG03099,HG03103,HG03117,HG03198,HG03224,HG03246,HG03258,HG03279,HG03351,HG03352,HG03370,HG03455,HG03470,HG03485,HG03634,HG03646,HG03681,HG03692,HG03696,HG03745,HG03752,HG03757,HG03765,HG03781,HG03800,HG03803,HG03823,HG03856,HG03858,HG03899,HG03945,HG03967,HG03976,HG04015,HG04026,HG04063,HG04099,HG04107,HG04131,HG04176,HG04195,HG04211,HG04227,HG04229,NA06989,NA12003,NA12006,NA12144,NA12718,NA12750,NA12751,NA12762,NA12843,NA18504,NA18538,NA18552,NA18565,NA18596,NA18620,NA18631,NA18632,NA18635,NA18638,NA18645,NA18647,NA18934,NA18940,NA18957,NA18976,NA19070,NA19081,NA19144,NA19200,NA19207,NA19309,NA19328,NA19346,NA19384,NA19391,NA19430,NA19443,NA19654,NA19717,NA19777,NA19792,NA20340,NA20362,NA20505,NA20512,NA20518,NA20539,NA20544,NA20581,NA20753,NA20803,NA20804,NA20815,NA20847,NA20849,NA20876,NA20877,NA20892,NA20896,NA20902,NA21088,NA21090,NA21094,NA21097,NA21102,NA21109,NA21116,NA21135 esv3585015 1 1627805 1673809 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841402,essv9841401,essv9841391,essv9841386,essv9841400,essv9841390,essv9841387,essv9841389,essv9841388,essv9841394,essv9841392,essv9841399,essv9841393,essv9841395,essv9841398,essv9841397,essv9841396,essv9841416,essv9841407,essv9841433,essv9841405,essv9841406,essv9841404,essv9841403,essv9841408,essv9841415,essv9841410,essv9841409,essv9841414,essv9841411,essv9841413,essv9841412,essv9841423,essv9841418,essv9841432,essv9841417,essv9841422,essv9841419,essv9841421,essv9841420,essv9841426,essv9841431,essv9841425,essv9841424,essv9841427,essv9841430,essv9841429,essv9841428,essv9841439,essv9841434,essv9841438,essv9841435,essv9841437,essv9841436,essv9841441,essv9841440 M 2504 56 0 CDK11A,CDK11B,MMP23A,SLC35E2 HG00139,HG00174,HG00257,HG00258,HG00282,HG00382,HG00693,HG01047,HG01048,HG01173,HG01248,HG01311,HG01456,HG01518,HG01524,HG01530,HG01630,HG01632,HG01685,HG01801,HG01868,HG01927,HG01974,HG02143,HG02154,HG02223,HG02351,HG02355,HG02502,HG02851,HG03388,HG03428,HG03517,HG03812,HG03833,HG04173,NA07056,NA11892,NA11920,NA12828,NA12889,NA18537,NA18582,NA19204,NA19707,NA19740,NA20127,NA20516,NA20528,NA20785,NA20808,NA20809,NA20832,NA20846,NA20851,NA20895 dgv9n100 1 1627906 1687928 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998152,nsv1007850,nsv1003869 M 29084 0 4 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv1011683 1 1627906 1688192 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471705 M 29084 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv1003545 1 1627906 1692321 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 1627918 1672603 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004884,essv7004885,essv7004895,essv7004883,essv7004897,essv7004905,essv7004904,essv7004909,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 1627918 1672603 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617358,nssv1617414,nssv1617168,nssv1617558,nssv1617569,nssv1617380,nssv1617625,nssv1617580,nssv1617425,nssv1617491,nssv1617279,nssv1617614,nssv1617536,nssv1617436,nssv1617403,nssv1617469,nssv1617503,nssv1617547,nssv1617525,nssv1617458,nssv1617480,nssv1617447,nssv1617591,nssv1617369,nssv1617636,nssv1617392,nssv1617057,nssv1616946,nssv1617514,nssv1616835,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 nsv3320717 1 1627927 1627927 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491951 M 14 1 0 CDK11B HG02059 nsv545031 1 1627987 1686040 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708620 M 17421 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 dgv4e212 1 1628405 1687927 CNV gain Uddin_et_al_2014 25503493 SNP array esv3578915,esv3577804,esv3576693,esv3567895 M 873 12 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 400109LJ,400213DB,400343BD,400375KA,400641WJ,400793BR,400800MW,401087SF,401117NA,401460LW,401490TL,401526WB nsv1160864 1 1628418 1669101 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027323 M 369 1 0 CDK11A,CDK11B,MMP23A,SLC35E2 nsv1160925 1 1628418 1687587 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027434,nssv4027545 M 369 0 2 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv4036877 1 1629000 1682350 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961284 M 10847 1 0 CDK11A,CDK11B,MMP23A,SLC35E2 nsv436343 1 1629618 1684180 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 1632798 1812077 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443851 M 95 0 1 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 nsv482168 1 1634170 1655791 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558529 M 1 1 0 CDK11A,CDK11B KB1 nsv4042473 1 1634725 1640200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851637 M 10847 0 1 CDK11A,CDK11B nsv822475 1 1635000 1680585 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1439447 M 31 1 0 CDK11A,CDK11B,SLC35E2 NA18537 nsv822586 1 1635201 1650813 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1438578 M 31 1 0 CDK11A,CDK11B NA18973 nsv822697 1 1635205 1667157 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1422355 M 31 0 1 CDK11A,CDK11B,SLC35E2 NA18552 nsv545032 1 1638005 1664124 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708621,nssv708622,nssv708623,nssv708624 M 17421 0 4 CDK11A,CDK11B,SLC35E2 dgv40n54 1 1638005 1680442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545034,nsv545033,nsv545037 M 17421 0 5 CDK11A,CDK11B,SLC35E2 nsv4047334 1 1641000 1647000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851655 M 10847 0 1 CDK11A,CDK11B dgv5e212 1 1642090 1687674 CNV gain Uddin_et_al_2014 25503493 SNP array esv3581137,esv3580026 M 873 2 0 CDK11A,CDK11B,NADK,SLC35E2 400785AK,401820SD dgv41n54 1 1644908 1671782 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545036,nsv545035 M 17421 0 3 CDK11A,CDK11B,SLC35E2 nsv1118094 1 1645000 1646800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980313 M 2 0 1 CDK11A,CDK11B KWS1 nsv4047989 1 1645500 1659000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851663 M 10847 0 1 CDK11A,CDK11B,SLC35E2 esv3567896 1 1647610 1672591 CNV gain Uddin_et_al_2014 25503493 SNP array essv9768533,essv9768422 M 873 2 0 CDK11A,CDK11B,SLC35E2 401432SB,401693RC nsv3321171 1 1647686 1647686 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491888 M 14 1 0 CDK11A,CDK11B HG02106 nsv822809 1 1647869 1667157 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431056 M 31 0 1 CDK11A,CDK11B,SLC35E2 AK18 nsv509368 1 1648331 1648331 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623768 M 4 1 0 CDK11A,CDK11B NA18994 nsv1152112 1 1648499 1650100 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996720 M 1 1 0 CDK11A,CDK11B KWB1 nsv4533736 1 1648529 1648530 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028638 M 10847 1 0 CDK11A,CDK11B nsv436733 1 1648626 1648695 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466139 M 2 1 0 CDK11A,CDK11B NA18505 nsv159838 1 1649026 1649076 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178416 M 24 CDK11A,CDK11B nsv3320728 1 1649026 1649076 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486974,nssv14479640,nssv14482940,nssv14482935,nssv14478780,nssv14491523,nssv14475730,nssv14475093,nssv14484339,nssv14487284,nssv14474776,nssv14480198,nssv14488948 M 14 0 13 CDK11A,CDK11B CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19434 esv3585016 1 1649047 1650523 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841468,essv9841467,essv9841466,essv9841448,essv9841465,essv9841442,essv9841447,essv9841443,essv9841446,essv9841445,essv9841444,essv9841450,essv9841455,essv9841464,essv9841449,essv9841454,essv9841451,essv9841453,essv9841452,essv9841458,essv9841463,essv9841457,essv9841456,essv9841459,essv9841462,essv9841461,essv9841460,essv9841497,essv9841480,essv9841470,essv9841469,essv9841474,essv9841479,essv9841471,essv9841473,essv9841472,essv9841478,essv9841475,essv9841477,essv9841476,essv9841487,essv9841482,essv9841496,essv9841481,essv9841486,essv9841483,essv9841485,essv9841484,essv9841490,essv9841495,essv9841489,essv9841488,essv9841494,essv9841491,essv9841493,essv9841492,essv9841500,essv9841503,essv9841499,essv9841498,essv9841502,essv9841501,essv9841506,essv9841505,essv9841504,essv9841507,essv9841508 M 2504 0 67 CDK11A,CDK11B HG00155,HG00259,HG00310,HG00479,HG00851,HG01064,HG01122,HG01182,HG01188,HG01431,HG01501,HG01757,HG01784,HG01794,HG01889,HG02026,HG02032,HG02047,HG02057,HG02073,HG02128,HG02134,HG02164,HG02239,HG02282,HG02383,HG02490,HG02558,HG02601,HG02728,HG02837,HG03681,HG03696,HG03730,HG03745,HG03757,HG03781,HG03803,HG03858,HG03899,HG03945,HG03967,HG03976,HG04026,HG04176,HG04229,NA12144,NA12718,NA12750,NA12751,NA18504,NA18620,NA18632,NA18647,NA18957,NA18976,NA19070,NA19777,NA19792,NA20362,NA20508,NA20512,NA20518,NA20544,NA20581,NA20804,NA21135 esv988165 1 1649051 1649101 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570116 M 3 0 1 CDK11A,CDK11B HuRef esv1455500 1 1649063 1649114 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4050580 M 2 0 1 CDK11A,CDK11B HuRef nsv160496 1 1649094 1649144 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179074 M 24 CDK11A,CDK11B nsv3320939 1 1649096 1649147 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475870 M 14 0 1 CDK11A,CDK11B HG02106 esv6106 1 1649450 1650789 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28547 M 1 0 0 CDK11A,CDK11B esv3585017 1 1649620 1650651 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841530,essv9841512,essv9841529,essv9841511,essv9841510,essv9841509,essv9841514,essv9841528,essv9841519,essv9841513,essv9841518,essv9841515,essv9841517,essv9841516,essv9841522,essv9841527,essv9841521,essv9841520,essv9841523,essv9841526,essv9841525,essv9841524,essv9841561,essv9841535,essv9841544,essv9841534,essv9841531,essv9841532,essv9841533,essv9841538,essv9841543,essv9841537,essv9841536,essv9841542,essv9841539,essv9841541,essv9841540,essv9841546,essv9841560,essv9841551,essv9841545,essv9841550,essv9841547,essv9841549,essv9841548,essv9841554,essv9841559,essv9841553,essv9841552,essv9841555,essv9841558,essv9841557,essv9841556,essv9841562,essv9841567,essv9841566,essv9841563,essv9841565,essv9841564,essv9841568,essv9841570,essv9841569,essv9841571,essv9841574,essv9841573,essv9841572 M 2504 0 66 CDK11A,CDK11B HG00155,HG00259,HG00310,HG00479,HG00851,HG01064,HG01122,HG01182,HG01188,HG01431,HG01501,HG01757,HG01784,HG01794,HG01889,HG02026,HG02032,HG02047,HG02057,HG02073,HG02128,HG02134,HG02164,HG02239,HG02282,HG02383,HG02490,HG02558,HG02601,HG02728,HG02837,HG03681,HG03696,HG03730,HG03745,HG03757,HG03781,HG03803,HG03858,HG03899,HG03945,HG03967,HG03976,HG04026,HG04176,HG04229,NA12144,NA12718,NA12750,NA12751,NA18620,NA18632,NA18647,NA18957,NA18976,NA19070,NA19777,NA19792,NA20362,NA20508,NA20512,NA20518,NA20544,NA20581,NA20804,NA21135 nsv955437 1 1649679 1650559 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000429 M 1 0 1 CDK11A,CDK11B BILGI_BIOE nsv160062 1 1649716 1650677 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178640 M 24 CDK11A,CDK11B nsv3321173 1 1649802 1649857 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491275 M 14 0 1 CDK11A,CDK11B HG02106 nsv3320730 1 1650041 1650627 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14477411 M 14 0 1 CDK11A,CDK11B HG02106 nsv4046958 1 1650400 1656000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963553 M 10847 1 0 CDK11A,CDK11B nsv4040818 1 1650550 1658975 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851673 M 10847 0 1 CDK11A,CDK11B,SLC35E2 nsv160158 1 1650603 1650603 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178736 M 24 CDK11A,CDK11B esv2668621 1 1651159 1651941 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5629650,essv6502114,essv5854246,essv5981084,essv5428122,essv6382267,essv5875369,essv6183585,essv5766798,essv6405662,essv5925180,essv6181979,essv5459191,essv6412603,essv5721102,essv6423905,essv5705033,essv6429076,essv5734885,essv6153819,essv5447015,essv6431866,essv5509797,essv6119048,essv5811208,essv6248804,essv5416521,essv6441545,essv5679734,essv6441948,essv5511908,essv6442324,essv5707911,essv6150455,essv5533725,essv6450861,essv5761947,essv6026905,essv5533975,essv6211439,essv5829857,essv6161260,essv5957397,essv5996000,essv5526479,essv6305366,essv5945228,essv6288639,essv5858348,essv6551084,essv5777711,essv6057054,essv5757432,essv6008529,essv5842807,essv6174707,essv5545500,essv6509143,essv5415020,essv6481896,essv5640630,essv6159658,essv5851810,essv6478047,essv5445813,essv6491661,essv5427661,essv6236522,essv5857834,essv6136806,essv5521262,essv6333757,essv5501939,essv6574947,essv5786016,essv6172833,essv5915606,essv6591585,essv5556298,essv6214341,essv5493869,essv5979668,essv5497841,essv6006807,essv5538931,essv6567674,essv5681328,essv6368978,essv5729436,essv6208300,essv5414059,essv6165381,essv5740387,essv6020832,essv5824414,essv6221133,essv5497193,essv6101359,essv5400219,essv6383329,essv5609773 M 1151 0 101 CDK11A,CDK11B HG00112,HG00126,HG00133,HG00158,HG00258,HG00276,HG00326,HG00357,HG00635,HG00641,HG00704,HG00737,HG01067,HG01094,HG01101,HG01111,HG01112,HG01124,HG01133,HG01353,HG01375,HG01497,HG01521,NA06989,NA07037,NA07056,NA11892,NA11920,NA11994,NA12155,NA12341,NA12347,NA12717,NA18488,NA18507,NA18535,NA18541,NA18565,NA18567,NA18615,NA18617,NA18621,NA18868,NA18873,NA18973,NA18988,NA18989,NA19000,NA19004,NA19056,NA19057,NA19059,NA19060,NA19066,NA19068,NA19072,NA19078,NA19079,NA19083,NA19087,NA19092,NA19189,NA19235,NA19317,NA19334,NA19346,NA19350,NA19376,NA19381,NA19383,NA19384,NA19391,NA19394,NA19397,NA19403,NA19431,NA19467,NA19625,NA19652,NA19679,NA19684,NA19700,NA19704,NA19707,NA19712,NA19717,NA19725,NA19729,NA19731,NA19755,NA19776,NA19782,NA19835,NA19901,NA19917,NA19920,NA20507,NA20761,NA20768,NA20804,NA20815 esv3682994 1 1651686 1651824 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467771 M 20 0 1 CDK11A,CDK11B nsv4051614 1 1656432 1658363 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848924 M 10847 0 1 SLC35E2 nsv4047202 1 1656592 1657633 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848931 M 10847 0 1 SLC35E2 nsv3321369 1 1657148 1658110 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14487336 M 14 0 1 SLC35E2 HG01352 nsv4517215 1 1657175 1658097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848947 M 10847 0 1 SLC35E2 nsv4517942 1 1657264 1657669 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963563 M 10847 1 0 SLC35E2 nsv4517621 1 1657291 1657892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849513 M 10847 0 1 SLC35E2 nsv4047343 1 1658800 1682000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963571 M 10847 1 0 SLC35E2 dgv42n54 1 1658945 1683565 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545039,nsv545038 M 17421 0 2 NADK,SLC35E2 nsv1076312 1 1659699 1662700 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768013 M 1 1 0 SLC35E2 KWP1 nsv4033292 1 1659700 1667025 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963581 M 10847 1 0 SLC35E2 nsv4516898 1 1659775 1674000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849522 M 10847 0 1 SLC35E2 nsv950521 1 1660501 1691900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997181 M 1 0 1 NADK,SLC35E2 BILGI_BIOE nsv545040 1 1664019 1671782 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708636,nssv708635 M 17421 0 2 SLC35E2 nsv945747 1 1666114 1668587 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750155,nssv1750159,nssv1749156,nssv1749166,nssv1750175,nssv1749163,nssv1750167,nssv1750162,nssv1750171,nssv1749177,nssv1750129,nssv1750163,nssv1750141,nssv1749168,nssv1750137,nssv1749160,nssv1750128,nssv1749159,nssv1750106,nssv1750160,nssv1750152,nssv1749167,nssv1750146,nssv1749161,nssv1750115,nssv1750104,nssv1750135,nssv1749170,nssv1750125,nssv1750165,nssv1750123,nssv1749176,nssv1750145,nssv1749175,nssv1750143,nssv1749178,nssv1750131,nssv1750111,nssv1750110,nssv1749172,nssv1750105,nssv1750161,nssv1750113,nssv1749162,nssv1750156,nssv1750157,nssv1750149,nssv1750164,nssv1749179,nssv1750166,nssv1750120,nssv1749164,nssv1750136,nssv1750109,nssv1750127,nssv1749173,nssv1750122,nssv1749174,nssv1750176,nssv1750158,nssv1750172,nssv1749165,nssv1750139,nssv1749158,nssv1750134,nssv1749169,nssv1750117,nssv1749157,nssv1750153,nssv1749171,nssv1750118,nssv1750108,nssv1750119,nssv1750169,nssv1750150,nssv1750132,nssv1750151,nssv1750114,nssv1750121,nssv1750170,nssv1750154,nssv1750130,nssv1750173,nssv1750142,nssv1750148,nssv1750147,nssv1750174,nssv1750107,nssv1750140,nssv1750116,nssv1750133,nssv1750126,nssv1750144,nssv1750138,nssv1750112,nssv1750168,nssv1750124 M 97 10 0 SLC35E2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4459337 1 1666521 1666522 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027746 M 10847 1 0 SLC35E2 nsv4034800 1 1671400 1676800 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849532 M 10847 0 1 SLC35E2 nsv3320952 1 1681045 1681045 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486452,nssv14486444,nssv14479274,nssv14475753,nssv14480109,nssv14486098,nssv14490165,nssv14486409,nssv14473827,nssv14486612 M 14 10 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02106,HG04217,HX1,NA12878 esv3408726 1 1681046 1681067 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863669,essv7863670 M 185 2 0 "" NA11992,NA18522 esv1736683 1 1681067 1681067 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3785632 M 2 1 0 "" HuRef nsv945749 1 1683296 1691866 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 1684472 1711698 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708637 M 17421 0 1 NADK nsv4048399 1 1702026 1704805 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849547 M 10847 0 1 NADK nsv1160926 1 1704138 1836927 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027656 M 369 1 0 GNB1,NADK nsv4035891 1 1704852 1705922 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849558 M 10847 0 1 NADK nsv4037916 1 1706107 1706210 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963592 M 10847 1 0 NADK dgv10n100 1 1711414 1815981 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011008,nsv1007257 M 29084 2 0 GNB1,NADK nsv951380 1 1716601 1722700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997192 M 1 0 1 GNB1 BILGI_BIOE nsv4042056 1 1730949 1733601 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851684 M 10847 0 1 GNB1 nsv4043339 1 1741649 1741751 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851692 M 10847 0 1 GNB1 nsv1133790 1 1742145 1742214 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969361 M 2 0 1 GNB1 KWS2 nsv4033473 1 1742345 1742523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851698 M 10847 0 1 GNB1 nsv834335 1 1744910 1933405 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443962 M 95 0 1 CALML6,GNB1,KIAA1751,TMEM52 nsv4051983 1 1755614 1755748 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963600 M 10847 1 0 GNB1 nsv4459440 1 1765809 1765810 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027662 M 10847 1 0 GNB1 esv2619193 1 1771014 1777460 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5309496 M 1 0 1 GNB1 NA18507 nsv4038831 1 1772000 1777000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851708 M 10847 0 1 GNB1 esv3585018 1 1772216 1773658 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841575 M 2504 0 1 GNB1 HG00146 esv2658596 1 1772235 1773644 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5493454 M 1151 0 1 GNB1 HG00146 nsv4537368 1 1773125 1773126 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027881 M 10847 1 0 GNB1 esv2666680 1 1773809 1775650 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5578378 M 1151 0 1 GNB1 NA18983 nsv4049582 1 1774000 1780000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851718 M 10847 0 1 GNB1 esv3577696 1 1774335 1778090 CNV loss Uddin_et_al_2014 25503493 SNP array essv9776866,essv9771755,essv9779644,essv9769644,essv9769200,essv9778978,essv9781422,essv9777532,essv9780644,essv9773977,essv9778644,essv9769533,essv9774422,essv9777421,essv9780866,essv9770089,essv9774755,essv9773866,essv9774088,essv9775977,essv9771866,essv9772533,essv9777643,essv9773422,essv9770422,essv9773755,essv9777310,essv9780089,essv9774866,essv9773644,essv9778533,essv9779866,essv9771311,essv9769978,essv9780977,essv9779089,essv9775644,essv9780311,essv9779311,essv9769089,essv9776644,essv9773311,essv9781200,essv9779755,essv9780755,essv9769866,essv9775310,essv9770311,essv9775533,essv9768867,essv9773088,essv9770644,essv9778755,essv9777756,essv9774977,essv9771089,essv9769311,essv9780200,essv9778867,essv9773199,essv9776088,essv9770533,essv9769755,essv9779978,essv9771977,essv9778311,essv9777978,essv9775199,essv9781089,essv9776199,essv9772977,essv9775866,essv9772200,essv9771644,essv9772422,essv9780533,essv9771533,essv9774199,essv9772311,essv9771200,essv9770866,essv9772088,essv9769422,essv9777088,essv9770200,essv9773533,essv9768644,essv9778089,essv9772644,essv9777199,essv9776977,essv9774310,essv9781311,essv9776310,essv9774644,essv9775755,essv9781533,essv9768978,essv9776532,essv9770755,essv9780422,essv9772755,essv9779200,essv9778422,essv9768755,essv9770977,essv9776421,essv9775421,essv9779533,essv9776755,essv9772866,essv9778200,essv9771422,essv9777867,essv9779422,essv9775088,essv9774533 M 873 0 117 GNB1 4000046CJ,400012CJ,400053LE,400061DE,400066MA,400072GR,400101EH,400113LD,400127MD,400136DM,400138LA,400148MS,400150SS,400152MR,400168HC,400171BJ,400186WC,400205SP,400206SC,400207HN,400227MM,400236DB,400240HJ,400267GD,400278PD,400302HW,400320RN,400340CD,400344DR,400353ML,400361HC,400453LN,400493KH,400496BL,400545EW,400564SN,400588BE,400595CP,400603CJ,400611GG,400618GC,400619MP,400643LD,400649PS,400671PP,400695PH,400717BD,400749VW,400778SR,400788PV,400811SK,400817MB,400818BL,400844GP,400866RR,400881GS,400953MR,401027KW,401029SD,401050GS,401052BM,401100SJ,401112LG,401143LK,401162TM,401175FA,401192MJ,401200BD,401203MP,401249TP,401258PC,401261HD,401265CB,401295HB,401355CD,401359HF,401384BP,401410BJ,401413RG,401448BJ,401458RT,401468RL,401478RD,401487FW,401505WI,401514BA,401536BD,401567BD,401582GG,401586RS,401594MP,401646MC,401661HD,401673DM,401719RL,401725MR,401762SD,401778CB,401799DP,401801LA,401817MC,401818PC,401822TL,401832MC,401873BK,401879HJ,401898DS,401927SK,401942MP,401943KA,401950MD,401962BK,402022SM,402061PI,402064DC,402073LQ,402074RR esv3577695 1 1774335 1781927 CNV loss Uddin_et_al_2014 25503493 SNP array essv9781755,essv9781866,essv9781977,essv9781644 M 873 0 4 GNB1 401346FJ,401347DH,401726LW,401932GN nsv4038832 1 1775000 1796000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851726 M 10847 0 1 GNB1 nsv4032475 1 1775386 1904035 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964176 M 10847 1 0 CALML6,GNB1,KIAA1751,TMEM52 nsv4037226 1 1778047 1779519 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849578 M 10847 0 1 GNB1 nsv4534099 1 1778551 1778552 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028305 M 10847 1 0 GNB1 nsv4033888 1 1783595 1783767 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849586 M 10847 0 1 GNB1 nsv4459450 1 1784565 1784566 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028407 M 10847 1 0 GNB1 nsv4033964 1 1786352 1793368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849595 M 10847 0 1 GNB1 nsv4050810 1 1786575 1787084 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849602 M 10847 0 1 GNB1 nsv478764 1 1787832 1787832 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015949 M 9 1 0 GNB1 NA18507 nsv1075000 1 1788687 1788744 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770055 M 1 0 1 GNB1 KWP1 nsv1113059 1 1788688 1788744 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969732,nssv3995081 M 2 0 2 GNB1 KWS1,KWS2 nsv4459595 1 1790299 1790300 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029025 M 10847 1 0 GNB1 nsv4050679 1 1791988 1793376 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849612 M 10847 0 1 GNB1 esv3556343 1 1816203 1817099 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9755090 M 767 0 1 GNB1 nsv4459611 1 1817344 1817345 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029124 M 10847 1 0 GNB1 nsv3320809 1 1817345 1817345 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14483281 M 14 1 0 GNB1 NA19240 nsv10272 1 1820454 1823312 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv21432,nssv21437,nssv21422,nssv24607,nssv18097,nssv24617,nssv26884,nssv28044,nssv21440,nssv28535,nssv28034,nssv21425,nssv28930,nssv21434,nssv28028,nssv29276,nssv24619 M 31 17 0 GNB1 NA07029,NA07048,NA10847,NA10863,NA11830,NA12740,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA19007,NA19144,NA19173 nsv951400 1 1820801 1875200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997204 M 1 0 1 CALML6,GNB1,TMEM52 BILGI_BIOE nsv1118095 1 1820900 1823400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980314 M 2 0 1 GNB1 KWS1 nsv1121741 1 1821600 1823300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968390 M 2 0 1 GNB1 KWS2 nsv4052018 1 1824001 1827794 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849628 M 10847 0 1 "" dgv17e59 1 1829392 1830490 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3359268,esv3369206 M 185 2 0 "" NA19239,NA19240 esv3667766 1 1836988 1837156 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490194 M 20 0 0 "" nsv4050299 1 1844602 1845230 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964191 M 10847 1 0 "" nsv10383 1 1846615 1859881 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24603 M 31 1 0 CALML6,TMEM52 NA18502 nsv3320835 1 1855663 1855663 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485488,nssv14482740,nssv14478897,nssv14479245,nssv14488765,nssv14476884,nssv14487684,nssv14484907,nssv14486265,nssv14488089,nssv14484469,nssv14478051 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv3321456 1 1859549 1859614 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477641 M 14 0 1 "" HG02818 esv3667915 1 1859623 1859691 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490327 M 20 0 0 "" esv2587332 1 1860515 1860964 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5262341 M 1 1 0 "" NA18507 esv3380384 1 1860619 1860968 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652057 M 185 1 0 "" NA19240 nsv512709 1 1860724 1860864 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625333 M 1 1 0 "" 1 nsv3321282 1 1860824 1860824 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472462,nssv14472447,nssv14479826,nssv14486360,nssv14491564,nssv14479876,nssv14484972,nssv14477428,nssv14476462,nssv14484264,nssv14490624 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,NA19240,NA19434 nsv1077279 1 1865399 1867100 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768630 M 1 1 0 "" KWP1 nsv3320840 1 1865700 1865700 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482678 M 14 1 0 "" HG00514 nsv3321286 1 1865719 1865719 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491153 M 14 1 0 "" CHM1 nsv1153293 1 1866185 1866279 CNV insertion John_et_al_2014 26484159 Sequencing nssv4001213 M 1 1 0 "" KWB1 esv6744 1 1866253 1867224 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29185 M 1 0 0 "" esv5421 1 1866304 1867172 CNV loss Wang_et_al_2008 18987735 Sequencing essv27862 M 1 0 1 "" YH nsv3321464 1 1866309 1866737 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480329,nssv14477188,nssv14487060,nssv14487702,nssv14489119,nssv14483380,nssv14480423,nssv14486189 M 14 0 8 "" CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HG04217,NA19434 esv3557454 1 1866340 1867041 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9756201 M 767 0 1 "" nsv1130626 1 1866342 1867011 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966939 M 2 0 1 "" KWS2 esv3683085 1 1866362 1867024 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467853 M 20 0 1 "" nsv1148856 1 1866373 1867034 CNV deletion John_et_al_2014 26484159 Sequencing nssv3997641 M 1 0 1 "" KWB1 nsv4049922 1 1866375 1866977 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849644 M 10847 0 1 "" nsv3321465 1 1866644 1866843 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485961 M 14 0 1 "" HG04217 nsv3321035 1 1866885 1867012 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491872,nssv14479957,nssv14477319,nssv14480663,nssv14478089,nssv14476466,nssv14473397,nssv14486151 M 14 0 8 "" CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HG04217,NA19434 esv3385307 1 1869192 1870790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692082 M 185 1 0 "" NA19240 nsv4035119 1 1869595 1869678 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849652 M 10847 0 1 "" dgv11n166 1 1869662 1869761 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4517658,nsv4035519 M 10847 2 0 "" nsv4040647 1 1870595 1870658 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849661 M 10847 0 1 "" nsv4535664 1 1872561 1872562 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029772 M 10847 1 0 "" nsv4041016 1 1875570 1875683 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849671 M 10847 0 1 "" esv2663496 1 1879774 1880090 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6123431,essv5724864,essv6133148,essv5534277,essv6416178,essv6123824 M 1151 0 6 "" NA18505,NA18868,NA19236,NA19257,NA19469,NA19470 nsv4045059 1 1879796 1880052 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849688 M 10847 0 1 "" esv3664555 1 1880039 1880039 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487302 M 20 1 0 "" esv3671041 1 1880373 1880373 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493141 M 20 1 0 "" nsv3320853 1 1880374 1880374 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491010,nssv14486011,nssv14484239,nssv14482097,nssv14481956,nssv14486309,nssv14483058,nssv14485959,nssv14487027,nssv14477875,nssv14486790 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv4048075 1 1880414 1880556 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964224 M 10847 1 0 "" nsv3321475 1 1880496 1880496 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473907,nssv14486541 M 14 2 0 "" HG00733,NA12878 nsv4046038 1 1885074 1885196 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850264 M 10847 0 1 KIAA1751 nsv834446 1 1892043 2087874 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444073 M 95 0 1 GABRD,KIAA1751,PRKCZ nsv4037967 1 1896596 1896689 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850272 M 10847 0 1 KIAA1751 esv2381744 1 1899196 1899525 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4505691 M 1 0 1 KIAA1751 NA18507 nsv1074477 1 1899386 1899486 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769548 M 1 0 1 KIAA1751 KWP1 nsv1113060 1 1899387 1899486 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967953 M 2 0 1 KIAA1751 KWS2 esv3683170 1 1900363 1900433 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467930 M 20 0 1 KIAA1751 nsv3320863 1 1900380 1900448 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483591,nssv14480956 M 14 0 2 KIAA1751 NA12878,NA19434 esv3385175 1 1902192 1902990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692084 M 185 1 0 KIAA1751 NA19240 nsv4518315 1 1902356 1902797 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964233 M 10847 1 0 KIAA1751 dgv12n166 1 1902466 1902827 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4042968,nsv4044447 M 10847 2 0 KIAA1751 nsv4037961 1 1902749 1902818 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850282 M 10847 0 1 KIAA1751 dgv43n54 1 1910371 1911217 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545042,nsv545043 M 17421 0 2 KIAA1751 esv25575 1 1910377 1913930 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 nsv3321057 1 1910491 1910606 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474693 M 14 0 1 KIAA1751 NA19434 nsv545044 1 1910578 1911319 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708640 M 17421 1 0 KIAA1751 nsv3321058 1 1910723 1910780 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489822 M 14 0 1 KIAA1751 NA19434 nsv3320865 1 1910787 1910903 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480118 M 14 0 1 KIAA1751 NA19434 esv2668919 1 1911022 1911376 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5966586,essv6114367,essv5908516,essv6155123,essv5427294,essv6043891,essv5826171,essv6000581,essv5942871,essv6098453,essv5940360,essv6156802,essv5935868,essv6153321,essv5513674,essv6060675,essv5953733,essv6527584,essv5769142,essv5983187,essv5959123,essv6104627,essv5640367,essv6189086,essv5430434,essv5999401,essv5674802,essv6255706,essv5706855,essv5995024,essv5417396,essv6058936,essv5571234,essv6033207,essv5788407,essv6198815,essv5675482,essv6348591,essv5440413,essv6458298,essv5660200,essv6587683,essv5776129,essv6515669,essv5685603,essv6234188,essv5894414,essv6201401,essv5492663,essv6379496 M 1151 0 50 KIAA1751 HG00159,HG00319,HG00324,HG00534,HG01047,HG01048,HG01055,HG01079,HG01101,HG01170,HG01250,HG01378,HG01384,HG01437,HG01440,HG01488,HG01492,NA07051,NA07346,NA18486,NA18510,NA18550,NA18552,NA18566,NA18570,NA18577,NA18582,NA18619,NA18934,NA18977,NA19007,NA19313,NA19328,NA19375,NA19376,NA19379,NA19390,NA19391,NA19394,NA19452,NA19712,NA19789,NA20340,NA20341,NA20344,NA20503,NA20540,NA20761,NA20795,NA20803 nsv3321486 1 1911039 1911096 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485486 M 14 0 1 KIAA1751 NA19434 nsv3321059 1 1911153 1911326 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490520 M 14 0 1 KIAA1751 NA19434 nsv3321309 1 1911499 1911569 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472664,nssv14482532 M 14 0 2 KIAA1751 HG00733,NA19434 nsv3321308 1 1911499 1911642 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491560 M 14 0 1 KIAA1751 NA19434 esv3559676 1 1911607 1911879 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758423 M 767 0 1 KIAA1751 nsv3321060 1 1911800 1911872 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477214,nssv14484601 M 14 0 2 KIAA1751 HG00733,NA19434 nsv4043917 1 1912834 1913401 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964268 M 10847 1 0 KIAA1751 nsv3321310 1 1912872 1913326 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489344 M 14 0 1 KIAA1751 HX1 esv994854 1 1912935 1913740 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586225 M 3 0 1 KIAA1751 HuRef nsv4517288 1 1913140 1913843 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849420 M 10847 0 1 KIAA1751 nsv3320867 1 1913260 1913260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491687,nssv14479139,nssv14481448,nssv14475840,nssv14472392,nssv14479468,nssv14480449,nssv14481517,nssv14473688 M 14 9 0 KIAA1751 CHM1,CHM13,HG00514,HG00733,HG02059,HG02818,HG04217,NA19240,NA19434 nsv3321311 1 1913317 1913317 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480297 M 14 1 0 KIAA1751 HG00268 esv1576320 1 1913325 1913325 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4312046 M 2 1 0 KIAA1751 HuRef nsv3320868 1 1913362 1913362 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477040 M 14 1 0 KIAA1751 HG00733 nsv3321061 1 1913484 1913484 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488923 M 14 1 0 KIAA1751 NA19434 nsv3321062 1 1913624 1913624 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481060 M 14 1 0 KIAA1751 HX1 nsv3321312 1 1913665 1913665 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486777 M 14 1 0 KIAA1751 NA19434 esv3664776 1 1915428 1915428 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487501 M 20 1 0 KIAA1751 nsv4037653 1 1916012 1916134 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962616 M 10847 1 0 KIAA1751 nsv4035443 1 1919376 1919455 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849430 M 10847 0 1 KIAA1751 esv3585019 1 1922946 1924578 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841576,essv9841578,essv9841577 M 2504 0 3 KIAA1751 HG02330,HG03824,NA20506 nsv958160 1 1922983 1924512 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005154 M 1 0 1 KIAA1751 BILGI_BIOE nsv4037281 1 1925000 1930000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849437 M 10847 0 1 KIAA1751 esv3671088 1 1925143 1925143 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493184 M 20 1 0 KIAA1751 nsv3321490 1 1925145 1925145 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14476794,nssv14483900,nssv14477688,nssv14483199,nssv14489037,nssv14490911,nssv14491471,nssv14479822,nssv14488152,nssv14489634,nssv14477429,nssv14481963,nssv14483637,nssv14486148 M 14 14 0 KIAA1751 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4042950 1 1925156 1926666 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849448 M 10847 0 1 KIAA1751 esv1718201 1 1925158 1925158 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4140788 M 2 1 0 KIAA1751 HuRef esv3671099 1 1925184 1925184 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493194 M 20 1 0 KIAA1751 nsv4047034 1 1925505 1927192 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849456 M 10847 0 1 KIAA1751 nsv4038352 1 1928000 1934000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962625 M 10847 1 0 KIAA1751 nsv4459856 1 1929202 1929203 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025984 M 10847 1 0 KIAA1751 esv3664968 1 1931349 1931349 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487675 M 20 1 0 KIAA1751 nsv4460167 1 1933738 1933739 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026639 M 10847 1 0 KIAA1751 nsv951425 1 1949601 2043700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997215 M 1 0 1 GABRD,PRKCZ BILGI_BIOE nsv3321086 1 1950660 1950660 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485803,nssv14481304,nssv14491628,nssv14472463,nssv14490372,nssv14485649,nssv14486342,nssv14480450,nssv14476938,nssv14484087,nssv14490512,nssv14484537,nssv14472832 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 esv3577697 1 1959613 1976788 CNV loss Uddin_et_al_2014 25503493 SNP array essv9782088 M 873 0 1 GABRD 400719TM nsv4535232 1 1959740 1959741 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026708 M 10847 1 0 GABRD nsv1143429 1 1981600 1982500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980626 M 2 0 1 PRKCZ KWS1 nsv4036359 1 1984755 1986625 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962632 M 10847 1 0 PRKCZ nsv822920 1 1988267 1990556 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436323 M 31 1 0 PRKCZ NA18542 esv3683330 1 1991852 1991919 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468074 M 20 0 1 PRKCZ nsv3321535 1 1991890 1991955 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478052 M 14 0 1 PRKCZ HG04217 nsv2520 1 1994733 2021060 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1058 M 9 1 0 PRKCZ NA19240 nsv509479 1 2003750 2108437 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619762,nssv619761 M 4 1 0 PRKCZ NA10860 nsv4536263 1 2011764 2011765 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028559 M 10847 1 0 PRKCZ nsv4037975 1 2012300 2012377 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849482 M 10847 0 1 PRKCZ nsv4035400 1 2016124 2019790 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850287 M 10847 0 1 PRKCZ esv1002714 1 2017029 2017029 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575233 M 3 1 0 PRKCZ HuRef nsv3322169 1 2017144 2017144 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491925 M 14 1 0 PRKCZ NA19240 esv3665114 1 2017166 2017166 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487806 M 20 1 0 PRKCZ nsv3321552 1 2017167 2017167 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481168,nssv14473973,nssv14479025,nssv14472583,nssv14477485,nssv14492014,nssv14474467 M 14 7 0 PRKCZ CHM1,HG00514,HG02059,HG02818,HG04217,HX1,NA19240 nsv3321553 1 2017200 2017200 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478115,nssv14490107 M 14 2 0 PRKCZ HX1,NA19434 esv1162822 1 2017221 2017221 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3941411 M 2 1 0 PRKCZ HuRef esv3665179 1 2017229 2017229 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487865 M 20 1 0 PRKCZ nsv3631 1 2022744 2056952 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7778 M 9 1 0 PRKCZ NA12156 nsv470681 1 2024064 2113565 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547651 M 443 0 1 PRKCZ HGDP00697 esv2668737 1 2024490 2027497 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5950655,essv6231552,essv5797826,essv6396289,essv5892031,essv6422341,essv5690079,essv6423410,essv5420709,essv6564858,essv5817670,essv6295269,essv5886970,essv6574210,essv5502714,essv6315088,essv5668953,essv6255118,essv5681468,essv6220938,essv5562511,essv6229381,essv5657047,essv6085392,essv5894647,essv6479850,essv5597900,essv6566834,essv5900192,essv6154406,essv5586775,essv6028858,essv5828436,essv6308201,essv5500049,essv6474764,essv5521064,essv6249120,essv5636927,essv5592270,essv5633795 M 1151 0 41 PRKCZ NA07051,NA07346,NA07347,NA11829,NA11831,NA11919,NA11992,NA11993,NA12004,NA12044,NA12717,NA12750,NA12751,NA12763,NA12892,NA18486,NA18504,NA18508,NA18516,NA18520,NA18522,NA18523,NA18853,NA18871,NA18953,NA18967,NA18972,NA18974,NA18976,NA18981,NA19107,NA19116,NA19138,NA19144,NA19152,NA19159,NA19172,NA19238,NA19239,NA19240,NA19676 esv27078 1 2024543 2027403 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16667 M 40 0 2 PRKCZ NA18508,NA19240 esv3585020 1 2024547 2027383 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841595,essv9841594,essv9841593,essv9841592,essv9841583,essv9841582,essv9841579,essv9841581,essv9841580,essv9841586,essv9841591,essv9841585,essv9841584,essv9841587,essv9841590,essv9841589,essv9841588,essv9841598,essv9841597,essv9841596 M 2504 0 20 PRKCZ HG02429,HG02479,HG02852,HG02854,HG02974,HG03112,HG03172,HG03267,HG03291,HG03342,HG03366,HG03370,HG03380,HG03517,NA18508,NA18923,NA19107,NA19239,NA19390,NA19676 nsv4047726 1 2024555 2027384 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850296 M 10847 0 1 PRKCZ nsv3321557 1 2024556 2027385 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477041 M 14 0 1 PRKCZ NA19240 esv3585021 1 2028833 2052740 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841599 M 2504 0 1 PRKCZ HG00610 esv3585022 1 2028833 2052740 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841600 M 2504 1 0 PRKCZ HG03722 nsv4317171 1 2035872 2036681 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789144 M 10847 0 0 PRKCZ esv4759 1 2037656 2038222 CNV loss Wang_et_al_2008 18987735 Sequencing essv27200 M 1 0 1 PRKCZ YH dgv1e194 1 2037749 2038273 CNV deletion Bentley_et_al_2008 18987734 Sequencing esv2345828,esv1927480 M 1 0 1 PRKCZ NA18507 dgv13n166 1 2037861 2038372 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4043822,nsv4051868 M 10847 2 0 PRKCZ nsv3322173 1 2037889 2037946 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490189,nssv14477219,nssv14479857,nssv14490354 M 14 0 4 PRKCZ HG00733,HG01352,HG02818,NA19240 nsv1121435 1 2037898 2037992 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965435 M 2 0 1 PRKCZ KWS2 nsv1137181 1 2037950 2038113 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975873 M 2 0 1 PRKCZ KWS1 nsv3321748 1 2037967 2038024 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483391,nssv14476800,nssv14484985,nssv14483468 M 14 0 4 PRKCZ CHM1,CHM13,HG02059,HG02106 nsv1074479 1 2037978 2038037 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772448 M 1 0 1 PRKCZ KWP1 esv3683431 1 2038015 2038249 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468165 M 20 0 1 PRKCZ nsv3322175 1 2038025 2038025 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476569,nssv14474075,nssv14476254,nssv14482882,nssv14483203,nssv14484372 M 14 6 0 PRKCZ HG00268,HG00514,HG02059,HG02106,HG04217,NA12878 nsv3322176 1 2038044 2038044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491964 M 14 1 0 PRKCZ HG02059 nsv3322177 1 2038103 2038190 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483414,nssv14482407,nssv14481606,nssv14472674,nssv14474589,nssv14487547,nssv14491399 M 14 0 7 PRKCZ CHM1,CHM13,HG01352,HG02059,HG02106,HX1,NA19434 nsv3321563 1 2038132 2038132 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478919,nssv14485142 M 14 2 0 PRKCZ HG00268,HG04217 nsv3322019 1 2038183 2038183 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490993,nssv14472106 M 14 2 0 PRKCZ HG00268,HG02059 nsv3322178 1 2038197 2038197 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482472,nssv14481764,nssv14476879,nssv14473585 M 14 4 0 PRKCZ HG00268,HG02059,HG02106,NA19240 nsv1140401 1 2038208 2038267 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979107 M 2 1 0 PRKCZ KWS2 nsv1122280 1 2038235 2038294 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969733 M 2 0 1 PRKCZ KWS2 nsv160060 1 2038311 2038311 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178638 M 24 PRKCZ nsv4046880 1 2039196 2043616 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850302 M 10847 0 1 PRKCZ nsv4044420 1 2039506 2039586 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850310 M 10847 0 1 PRKCZ nsv4037705 1 2040126 2055059 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962661 M 10847 1 0 PRKCZ nsv460616 1 2040936 2089526 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537157 M 1557 0 1 PRKCZ NINDS_69 nsv545045 1 2040936 2089526 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172578 M 17421 0 1 PRKCZ NINDS_69 esv2196740 1 2041419 2041771 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4845456 M 1 0 1 PRKCZ NA18507 nsv3322022 1 2041461 2041555 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490787,nssv14489988,nssv14476441,nssv14473543,nssv14473741,nssv14474888,nssv14478856,nssv14485837,nssv14486077,nssv14486987,nssv14482926,nssv14476484,nssv14487061,nssv14479524 M 14 0 14 PRKCZ CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv1121436 1 2041553 2041657 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965436 M 2 0 1 PRKCZ KWS2 nsv834557 1 2049070 2242543 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444962,nssv1445073,nssv1445184,nssv1444406,nssv1444739,nssv1444184,nssv1445295,nssv1444851,nssv1444628,nssv1444517,nssv1444295 M 95 0 11 C1orf86,PRKCZ,SKI nsv4041017 1 2049446 2050247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850319 M 10847 0 1 PRKCZ esv2492368 1 2052521 2053012 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5343806 M 1 1 0 PRKCZ NA18507 esv3388837 1 2052692 2055890 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692102 M 185 1 0 PRKCZ NA19239 nsv3321569 1 2052942 2053106 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490576,nssv14472820 M 14 0 2 PRKCZ CHM1,CHM13 nsv4518087 1 2052952 2053078 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850335 M 10847 0 1 PRKCZ esv26913 1 2052961 2055975 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 2052961 2056045 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420402 M 1 0 1 PRKCZ NA10851 nsv3321756 1 2053058 2053201 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476130 M 14 0 1 PRKCZ HG02059 nsv3322032 1 2053117 2053117 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474947,nssv14474557,nssv14480787 M 14 3 0 PRKCZ HG01352,HG02818,NA19240 nsv951470 1 2053201 2056200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997226 M 1 0 1 PRKCZ BILGI_BIOE dgv44n54 1 2053205 2055373 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545049,nsv545052,nsv545046,nsv545056 M 17421 0 22 PRKCZ dgv45n54 1 2053205 2055638 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545051,nsv545050,nsv545058,nsv545047,nsv545054,nsv545048 M 17421 18 0 PRKCZ nsv3321757 1 2053207 2053207 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486154,nssv14476335,nssv14479751,nssv14476418 M 14 4 0 PRKCZ CHM1,CHM13,HG01352,HX1 nsv3321760 1 2053309 2053309 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473615,nssv14487031,nssv14489187,nssv14486181,nssv14491554 M 14 5 0 PRKCZ HG01352,HG02106,HG02818,NA19240,NA19434 nsv3322034 1 2053309 2053427 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477014 M 14 0 1 PRKCZ HG02059 esv2505453 1 2053384 2056112 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5233482 M 1 0 1 PRKCZ NA18507 nsv3321762 1 2053408 2053408 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484049,nssv14481010,nssv14487314 M 14 3 0 PRKCZ CHM1,HG01352,HG02106 nsv3322035 1 2053494 2053494 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474294 M 14 1 0 PRKCZ HG00514 nsv3322187 1 2053514 2053923 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482521,nssv14491249 M 14 0 2 PRKCZ HG01352,HG02818 esv4841 1 2053516 2055933 CNV loss Wang_et_al_2008 18987735 Sequencing essv27282 M 1 0 1 PRKCZ YH nsv3322188 1 2053527 2053527 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480528 M 14 1 0 PRKCZ HG01352 nsv3321570 1 2053533 2053533 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481602,nssv14483807 M 14 2 0 PRKCZ HG02106,NA19434 dgv14n166 1 2053546 2054461 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4051778,nsv4045587 M 10847 2 0 PRKCZ nsv3322189 1 2053564 2053564 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479211,nssv14477248,nssv14473516 M 14 3 0 PRKCZ HG00514,HX1,NA19434 dgv46n54 1 2053581 2055501 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545060,nsv545053,nsv545057 M 17421 32 16 PRKCZ nsv1074070 1 2053599 2055600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772721 M 1 0 1 PRKCZ KWP1 nsv1130941 1 2053600 2055600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967638 M 2 0 1 PRKCZ KWS2 esv1008133 1 2053623 2055810 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586410 M 3 1 0 PRKCZ HuRef nsv4039666 1 2053687 2053804 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850345 M 10847 0 1 PRKCZ nsv545055 1 2053757 2055250 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708673 M 17421 1 0 PRKCZ nsv3321763 1 2053859 2053920 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481728 M 14 0 1 PRKCZ CHM13 nsv3322036 1 2053920 2053920 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481957,nssv14487872,nssv14477793 M 14 3 0 PRKCZ HG00268,HG00514,HG02106 nsv4516971 1 2053920 2054634 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961321 M 10847 1 0 PRKCZ nsv3322190 1 2053958 2053958 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481309 M 14 1 0 PRKCZ HG00268 nsv3321571 1 2053987 2053987 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487113 M 14 1 0 PRKCZ HG02106 nsv3322191 1 2054008 2054008 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486258 M 14 1 0 PRKCZ HG00268 nsv3322192 1 2054075 2054303 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487713,nssv14484207,nssv14484880,nssv14490531,nssv14478405,nssv14476375 M 14 0 6 PRKCZ HG00514,HG00733,HG01352,HG02059,HG02818,HX1 dgv47n54 1 2054080 2055501 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545061,nsv545059 M 17421 0 7 PRKCZ nsv3321764 1 2054084 2054140 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490760,nssv14482232 M 14 0 2 PRKCZ HG02106,NA19434 nsv3322037 1 2054183 2054296 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485040,nssv14491700 M 14 0 2 PRKCZ HX1,NA19434 nsv4517122 1 2054186 2055078 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961329 M 10847 1 0 PRKCZ nsv3322193 1 2054199 2054199 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484131 M 14 1 0 PRKCZ HG00268 nsv3321572 1 2054235 2054288 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489408 M 14 0 1 PRKCZ HG02106 nsv3322194 1 2054266 2054266 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481700 M 14 1 0 PRKCZ HG00268 nsv3321573 1 2054283 2054283 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14483833 M 14 1 0 PRKCZ CHM1 nsv4048071 1 2054315 2054577 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961338 M 10847 1 0 PRKCZ nsv3322038 1 2054338 2054338 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475021,nssv14483117,nssv14472885 M 14 3 0 PRKCZ CHM1,HG00268,NA19434 nsv3322039 1 2054341 2054582 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473295 M 14 0 1 PRKCZ HG01352 nsv3322195 1 2054371 2054371 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489867 M 14 1 0 PRKCZ HG00268 nsv3321765 1 2054373 2054438 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476155 M 14 0 1 PRKCZ HG02818 nsv3321766 1 2054470 2054470 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475651 M 14 1 0 PRKCZ HG02106 nsv3321767 1 2054521 2054574 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476798 M 14 0 1 PRKCZ HG02818 nsv3322040 1 2054524 2054524 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491646 M 14 1 0 PRKCZ NA19434 nsv3322196 1 2054540 2054540 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485972,nssv14486248 M 14 2 0 PRKCZ HG00268,HG00733 esv1138741 1 2054545 2054653 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3618162 M 2 0 1 PRKCZ HuRef nsv3321768 1 2054575 2054647 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489162 M 14 0 1 PRKCZ HG02106 nsv3322041 1 2054597 2054597 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474173,nssv14486372,nssv14485431,nssv14480201 M 14 4 0 PRKCZ CHM13,HG00268,HG00733,HX1 nsv3321769 1 2054633 2054713 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486188 M 14 0 1 PRKCZ HG02818 nsv3321575 1 2054671 2054671 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489612,nssv14489958,nssv14485066,nssv14479179,nssv14482136 M 14 5 0 PRKCZ HG00268,HG00514,HG00733,HG02106,HX1 nsv545062 1 2054715 2077872 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708737 M 17421 0 1 PRKCZ nsv3321770 1 2054748 2054748 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473171 M 14 1 0 PRKCZ HX1 nsv3321576 1 2054798 2054798 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487673 M 14 1 0 PRKCZ CHM13 nsv4042065 1 2054812 2055304 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961357 M 10847 1 0 PRKCZ nsv3322197 1 2054847 2055590 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488695,nssv14490570,nssv14480940,nssv14483597,nssv14476119 M 14 0 5 PRKCZ HG00268,HG01352,HG02059,HG02818,NA19434 nsv3322042 1 2054848 2055027 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474125,nssv14488984,nssv14482568,nssv14472771,nssv14484752,nssv14472765 M 14 0 6 PRKCZ CHM1,HG02059,HG02818,HX1,NA19240,NA19434 nsv3321771 1 2054888 2054888 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489656 M 14 1 0 PRKCZ HG00268 nsv3322198 1 2055150 2055150 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489793 M 14 1 0 PRKCZ HG00268 nsv3321772 1 2055159 2055242 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490353 M 14 0 1 PRKCZ HX1 nsv3321577 1 2055190 2055400 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478895 M 14 0 1 PRKCZ HG02106 nsv3322199 1 2055298 2055369 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480237 M 14 0 1 PRKCZ CHM1 nsv3321578 1 2055342 2055662 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474372,nssv14481412,nssv14487838,nssv14480157,nssv14479484,nssv14491183 M 14 0 6 PRKCZ CHM13,HG00268,HG01352,HG02059,HG02818,NA19434 nsv3321773 1 2055364 2055364 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479856 M 14 1 0 PRKCZ HG00733 nsv3322200 1 2055433 2055558 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481274,nssv14486410 M 14 0 2 PRKCZ CHM1,HG00514 nsv3322201 1 2055467 2055467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489218,nssv14491739 M 14 2 0 PRKCZ HG00268,HX1 nsv3322202 1 2055508 2055508 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478294 M 14 1 0 PRKCZ HG02106 nsv3321579 1 2055632 2055632 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14474248 M 14 1 0 PRKCZ HG00733 nsv3322203 1 2055646 2055646 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476213,nssv14477215 M 14 2 0 PRKCZ HG00268,HX1 nsv3322204 1 2055682 2055682 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476742,nssv14475911,nssv14485788,nssv14479314,nssv14488419 M 14 5 0 PRKCZ HG00514,HG02059,HG02106,HX1,NA19240 nsv3321774 1 2055685 2055828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484345,nssv14490988,nssv14483109,nssv14487342,nssv14475935 M 14 0 5 PRKCZ CHM13,HG00268,HG01352,HG02818,NA19434 nsv3321580 1 2055688 2055688 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483804,nssv14472384 M 14 2 0 PRKCZ HG00733,HG02106 nsv3321581 1 2055775 2055828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490127 M 14 0 1 PRKCZ HG00268 nsv3321775 1 2055807 2055807 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481050 M 14 1 0 PRKCZ HG02106 nsv951471 1 2065601 2070700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997237 M 1 0 1 PRKCZ BILGI_BIOE nsv4049870 1 2068993 2069150 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850353 M 10847 0 1 PRKCZ esv3683465 1 2073425 2073847 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468196 M 20 0 1 PRKCZ esv2313378 1 2073716 2074039 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4884634 M 1 0 1 PRKCZ NA18507 esv4294 1 2073731 2073962 CNV loss Wang_et_al_2008 18987735 Sequencing essv26735 M 1 0 1 PRKCZ YH nsv3321591 1 2073747 2073831 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477907,nssv14488730,nssv14488219,nssv14489243,nssv14487480,nssv14474318,nssv14489933 M 14 0 7 PRKCZ HG00268,HG00514,HG00733,HG01352,HG02106,NA12878,NA19434 nsv1153893 1 2073814 2073931 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003168 M 1 0 1 PRKCZ KWB1 nsv1075767 1 2077599 2080000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3767387 M 1 1 0 PRKCZ KWP1 nsv3321790 1 2079160 2079160 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491866,nssv14478365,nssv14479975,nssv14475307,nssv14483545,nssv14472953,nssv14491042 M 14 7 0 PRKCZ CHM1,CHM13,HG01352,HG02059,HG02818,HX1,NA19240 nsv4046366 1 2080985 2081229 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850370 M 10847 0 1 PRKCZ dgv48n54 1 2082489 2182470 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545065,nsv545063 M 17421 0 2 C1orf86,PRKCZ,SKI 1780862101_A nsv461727 1 2082489 2182470 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538084 M 1557 0 1 C1orf86,PRKCZ,SKI 1780862101_A dgv49n54 1 2082489 2221222 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545064,nsv545066 M 17421 0 2 C1orf86,PRKCZ,SKI nsv951530 1 2085101 2161400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997248 M 1 0 1 C1orf86,PRKCZ,SKI BILGI_BIOE dgv18e59 1 2085992 2087390 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3377460,esv3434245 M 185 2 0 PRKCZ NA19239,NA19240 nsv4047762 1 2086560 2086639 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849491 M 10847 0 1 PRKCZ nsv1113061 1 2087041 2087094 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967954 M 2 0 1 PRKCZ KWS2 nsv4460224 1 2093036 2093037 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029211 M 10847 1 0 PRKCZ esv3665388 1 2098115 2098115 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488053 M 20 1 0 PRKCZ nsv470682 1 2119833 2310193 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 nsv4041701 1 2121037 2121102 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961366 M 10847 1 0 C1orf86 nsv1074484 1 2125599 2126400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763563 M 1 0 1 C1orf86 KWP1 nsv1112517 1 2125600 2126400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967639,nssv3984397 M 2 0 2 C1orf86 KWS1,KWS2 nsv1075013 1 2136199 2136800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768197 M 1 0 1 C1orf86 KWP1 nsv818111 1 2140261 2156362 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417805 M 112 0 1 C1orf86 NA18853 nsv463949 1 2140261 2195117 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv539962 M 1557 0 1 C1orf86,SKI 1780862414_A nsv545067 1 2140261 2195117 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172580 M 17421 0 1 C1orf86,SKI 1780862414_A nsv3322087 1 2143290 2143290 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14479649,nssv14477388,nssv14479246 M 14 3 0 C1orf86 CHM1,HG02059,HX1 nsv4517239 1 2143311 2143572 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849509 M 10847 0 1 C1orf86 nsv3322088 1 2143606 2143606 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14474121,nssv14485148,nssv14486159 M 14 3 0 C1orf86 CHM13,HG02059,HX1 nsv4047574 1 2151372 2154713 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850073 M 10847 0 1 "" nsv4460617 1 2152211 2152212 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027438 M 10847 1 0 "" esv3577698 1 2153436 2154569 CNV loss Uddin_et_al_2014 25503493 SNP array essv9782977,essv9783199,essv9782200,essv9782755,essv9783088,essv9782644,essv9782422,essv9782866,essv9782533,essv9782311 M 873 0 10 "" 400002HK,400030WD,400168HC,400686BM,400793BR,401084BD,401414CR,401603HH,401728WK,401806DL nsv834668 1 2155766 2324377 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1449406,nssv1448295,nssv1445628,nssv1447073,nssv1449295,nssv1448184,nssv1450406,nssv1447184,nssv1446184,nssv1447628,nssv1449183,nssv1450294,nssv1447406,nssv1450183,nssv1446961,nssv1445850,nssv1448628,nssv1449961,nssv1448072,nssv1446073,nssv1448850,nssv1447517,nssv1449850,nssv1450628,nssv1447850,nssv1448739,nssv1450517,nssv1448517,nssv1446406,nssv1449517,nssv1448961,nssv1445739,nssv1445517,nssv1448406,nssv1447295,nssv1446628,nssv1446295,nssv1446517,nssv1450072,nssv1449739,nssv1446850,nssv1449628,nssv1445406,nssv1445962,nssv1447739,nssv1449072,nssv1446739,nssv1447961 M 95 0 48 LOC100129534,MORN1,RER1,SKI nsv4040106 1 2157000 2162000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961933 M 10847 1 0 SKI esv2648351 1 2158465 2160492 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5208944 M 1 0 1 SKI NA18507 dgv13n106 1 2159000 2160100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121742,nsv1143430 M 2 0 2 "" KWS1,KWS2 nsv1074077 1 2159199 2160100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769049 M 1 0 1 "" KWP1 esv3585023 1 2162106 2163200 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841601 M 2504 0 1 SKI NA18910 esv2673961 1 2162118 2163146 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6191476 M 1151 0 1 SKI NA18910 nsv4564154 1 2166284 2166285 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029302 M 10847 1 0 SKI nsv4041274 1 2166769 2190885 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850087 M 10847 0 1 SKI esv3669715 1 2177253 2177310 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16491948 M 20 0 0 SKI nsv951531 1 2178801 2186700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997259 M 1 0 1 SKI BILGI_BIOE nsv4044220 1 2178808 2178903 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850105 M 10847 0 1 SKI nsv4051918 1 2179777 2182115 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850116 M 10847 0 1 SKI nsv465060 1 2180524 2220649 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv540916 M 1557 0 1 SKI HGDP01351 nsv545068 1 2180524 2220649 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172581 M 17421 0 1 SKI HGDP01351 nsv4536577 1 2180975 2180976 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027509 M 10847 1 0 SKI nsv545069 1 2182470 2222583 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708741 M 17421 1 0 SKI nsv4046751 1 2184810 2189500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850124 M 10847 0 1 SKI nsv3321659 1 2193488 2193557 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487544 M 14 0 1 SKI HG00514 nsv3321660 1 2193535 2193603 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480923 M 14 0 1 SKI HX1 nsv4044181 1 2194968 2216608 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850134 M 10847 0 1 SKI nsv951557 1 2197501 2496100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997270 M 1 0 1 HES5,LOC100129534,LOC100133445,LOC115110,MORN1,PANK4,PEX10,PLCH2,RER1,SKI,TNFRSF14 BILGI_BIOE nsv528621 1 2199057 2211849 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705251 M 2026 0 1 SKI nsv545070 1 2199057 2231463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708742 M 17421 0 1 SKI nsv3321851 1 2201224 2201403 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485140 M 14 0 1 SKI HG02818 nsv4045776 1 2201991 2202145 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850142 M 10847 0 1 SKI nsv4042700 1 2203160 2203231 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850150 M 10847 0 1 SKI nsv545071 1 2204755 2224836 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708743 M 17421 1 0 SKI esv3665533 1 2211814 2211814 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488184 M 20 1 0 SKI esv22780 1 2212060 2214175 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 nsv3322285 1 2212160 2212160 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489987 M 14 1 0 SKI HG04217 nsv3322284 1 2212160 2212246 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489850,nssv14490108,nssv14478839,nssv14474373,nssv14475966,nssv14485094,nssv14472902,nssv14477400,nssv14491522,nssv14491406,nssv14486834 M 14 0 11 SKI CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HX1,NA12878,NA19240 esv1252402 1 2212160 2212373 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3979301 M 2 0 1 SKI HuRef nsv3322133 1 2212195 2212195 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481366 M 14 1 0 SKI HG04217 nsv3322134 1 2212367 2212367 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477858,nssv14488841 M 14 2 0 SKI HG00268,HG04217 nsv3321678 1 2212376 2212376 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475360,nssv14474918 M 14 2 0 SKI HG00268,HG00514 nsv3322286 1 2212410 2212410 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483647,nssv14474508 M 14 2 0 SKI HG00268,HG00514 nsv3321860 1 2212484 2212484 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475583 M 14 1 0 SKI HG02106 nsv3321861 1 2212542 2213102 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473526,nssv14483642,nssv14480369,nssv14476505 M 14 0 4 SKI HG00514,HG01352,HG04217,NA19240 nsv3322287 1 2212570 2212570 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477768 M 14 1 0 SKI CHM13 esv1536883 1 2212641 2212728 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3775323 M 2 0 1 SKI HuRef nsv3322135 1 2212712 2212712 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487084 M 14 1 0 SKI CHM1 nsv3321862 1 2212783 2212783 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483087 M 14 1 0 SKI HG04217 esv1025209 1 2212790 2213005 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4025462 M 2 0 1 SKI HuRef nsv3322288 1 2212878 2213006 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479333,nssv14480094,nssv14472725 M 14 0 3 SKI HG00733,HG02059,HX1 nsv3321679 1 2212885 2212885 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487533 M 14 1 0 SKI NA12878 nsv3322136 1 2213014 2213099 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473127,nssv14474868 M 14 0 2 SKI HG00268,HG02818 esv1682069 1 2213018 2213276 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4061538 M 2 0 1 SKI HuRef nsv3321863 1 2213038 2213038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491873,nssv14472413 M 14 2 0 SKI HG00268,HG02106 nsv3321864 1 2213123 2213123 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482063 M 14 1 0 SKI NA12878 nsv3321865 1 2213152 2213152 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482239,nssv14473859 M 14 2 0 SKI HG00268,NA12878 nsv3321681 1 2213229 2213229 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486553,nssv14485555 M 14 2 0 SKI HG04217,NA12878 nsv3322138 1 2213235 2213297 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482818,nssv14484348 M 14 0 2 SKI CHM1,HG00514 nsv3322289 1 2213256 2213256 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482434,nssv14473093,nssv14490932,nssv14474402 M 14 4 0 SKI CHM13,HG00268,HG00514,HG02106 nsv3322290 1 2213278 2213278 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480562,nssv14491949,nssv14476981 M 14 3 0 SKI CHM13,HG02106,HG04217 esv1164473 1 2213301 2213387 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3589181 M 2 0 1 SKI HuRef nsv3321682 1 2213302 2213388 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483438,nssv14485940 M 14 0 2 SKI HG00514,HG02059 nsv3321683 1 2213364 2213622 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490693,nssv14477315 M 14 0 2 SKI HG01352,HG02818 nsv3321684 1 2213487 2213487 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485247 M 14 1 0 SKI HG00268 nsv3321685 1 2213514 2213514 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481568 M 14 1 0 SKI NA12878 nsv3322291 1 2213558 2213686 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476279,nssv14488394,nssv14490037,nssv14483352 M 14 0 4 SKI HG00514,HG00733,HG04217,NA19240 nsv3322139 1 2213647 2213647 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481928 M 14 1 0 SKI CHM13 nsv3321686 1 2213687 2213687 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484182 M 14 1 0 SKI HG04217 nsv3322292 1 2213734 2213734 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477567,nssv14483420 M 14 2 0 SKI HG04217,NA12878 nsv3321866 1 2213818 2213902 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481950 M 14 0 1 SKI NA19240 nsv3321879 1 2221025 2221025 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487054 M 14 1 0 SKI HG02818 nsv4050059 1 2231787 2231883 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850159 M 10847 0 1 SKI nsv4041475 1 2231941 2232027 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964280 M 10847 1 0 SKI nsv823031 1 2234213 2266305 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426364 M 31 1 0 MORN1,SKI AK6 nsv4038725 1 2235541 2235731 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850169 M 10847 0 1 SKI nsv4742 1 2236164 2282202 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 2237528 2241980 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv823586,nsv823142,nsv823253,nsv823475 M 31 4 0 SKI AK12,NA18564,NA18951,NA18969 nsv823364 1 2238295 2241002 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1437213 M 31 1 0 SKI NA18949 nsv4536307 1 2245204 2245205 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028159 M 10847 1 0 "" dgv14n106 1 2245900 2246700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126169,nsv1136058 M 2 0 2 "" KWS1,KWS2 nsv1076878 1 2245999 2246900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764592 M 1 0 1 "" KWP1 esv2502867 1 2255698 2258249 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5196708 M 1 0 1 MORN1 NA18507 nsv4033235 1 2256505 2256570 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964302 M 10847 1 0 MORN1 nsv3321726 1 2256553 2256553 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475462,nssv14484479 M 14 2 0 MORN1 CHM1,HG02818 nsv4042765 1 2256571 2256625 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964312 M 10847 1 0 MORN1 nsv3321895 1 2257391 2257451 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472112 M 14 0 1 MORN1 HG02818 esv3683595 1 2258500 2258729 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468311 M 20 0 1 MORN1 nsv1133791 1 2258582 2258754 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967955,nssv3985251 M 2 0 2 MORN1 KWS1,KWS2 esv3683650 1 2263283 2263380 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468361 M 20 0 1 MORN1 nsv4534656 1 2267268 2267269 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030086 M 10847 1 0 MORN1 nsv4046436 1 2280195 2280647 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850192 M 10847 0 1 MORN1 nsv1003233 1 2280423 2335505 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696757 M 29084 1 0 LOC100129534,MORN1,RER1 nsv4037190 1 2284096 2285821 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850199 M 10847 0 1 LOC100129534,MORN1 esv3577699 1 2302911 2320640 CNV loss Uddin_et_al_2014 25503493 SNP array essv9783311 M 873 0 1 MORN1 401011PJ esv3585024 1 2303828 2320328 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841602,essv9841606,essv9841603,essv9841605,essv9841604 M 2504 0 5 MORN1 NA20853,NA20876,NA20911,NA21094,NA21124 nsv520511 1 2307481 2309082 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697462 M 2026 0 1 MORN1 nsv4047344 1 2307693 2307853 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964322 M 10847 1 0 MORN1 nsv4047909 1 2309392 2309445 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850617 M 10847 0 1 MORN1 nsv823697 1 2321132 2337358 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426365 M 31 1 0 MORN1,PEX10,RER1 AK6 nsv470684 1 2326009 2847488 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547666,nssv547664,nssv547662,nssv547663,nssv547669,nssv547671,nssv547660,nssv547668,nssv547670,nssv547661,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 2332252 2333247 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5353074 M 1 1 0 RER1 NA18507 nsv545072 1 2333031 2406887 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708744 M 17421 0 1 PEX10,RER1 dgv1n27 1 2333031 2450394 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv466171,nsv467282 M 1557 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 dgv50n54 1 2333031 2450394 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 2333226 2333383 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625334 M 1 1 0 RER1 1 nsv4044127 1 2333781 2334471 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851191 M 10847 0 1 RER1 nsv823808 1 2334580 2335834 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436324 M 31 1 0 RER1 NA18542 nsv545075 1 2359981 2390204 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708745 M 17421 0 1 "" nsv470685 1 2359981 2450394 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547672 M 443 1 0 PANK4,PLCH2 HGDP00720 nsv545076 1 2359981 2466633 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708746 M 17421 1 0 HES5,PANK4,PLCH2 nsv545077 1 2359981 2553624 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 2366316 2431057 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172584 M 17421 0 1 PLCH2 HGDP00823 nsv4037445 1 2367455 2367819 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851199 M 10847 0 1 "" nsv4048414 1 2367547 2368155 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964330 M 10847 1 0 "" dgv15n166 1 2367660 2368027 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4050576,nsv4045072 M 10847 2 0 "" esv3683718 1 2367766 2367949 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468422 M 20 0 1 "" esv2668714 1 2367783 2368009 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5630844,essv6378265,essv5589777,essv6393176,essv5414235,essv6061718,essv5796448,essv6402562,essv5583100,essv6404744,essv5867450,essv6572195,essv5523762,essv6150234,essv5432359,essv6510339,essv5925401,essv6410642,essv5673453,essv6095950,essv5561041,essv6412544,essv5728098,essv6417282,essv5608646,essv6231320,essv5427393,essv6420983,essv5602173,essv6583990,essv5400745,essv6164878,essv5940301,essv6106037,essv5442509,essv6436239,essv5412390,essv6499911,essv5439678,essv6137418,essv5646611,essv6529134,essv5503301,essv6255206,essv5519123,essv6489486,essv5448132,essv6052252,essv5642752,essv6300274,essv5685920,essv6544556,essv5717656,essv6303495,essv5437439,essv6310386,essv5624107,essv6319824,essv5643676,essv5974767,essv5740169,essv6269044,essv5890375,essv6326352,essv5672295,essv6072434,essv5632537,essv6334402,essv5631580,essv6244737,essv5655601,essv6288922,essv5903711,essv6176979,essv5772983,essv6015565,essv5678679,essv6176421,essv5671033,essv6273610,essv5641464,essv6344808,essv5901413,essv6135652,essv5425178,essv5967212,essv5938607,essv6533947,essv5648999,essv6080801,essv5423514,essv6052052,essv5911315,essv6167981,essv5810986,essv6136547,essv5682628,essv6367710,essv5831388,essv6369582,essv5863149,essv6503964,essv5565564,essv6470051,essv5610738,essv6124602,essv5584739,essv6374994,essv5905581,essv6500591,essv5614270,essv6376204,essv5932921,essv6464841,essv5477340,essv6378150,essv5467369,essv6307009,essv5572816,essv6148045,essv5930767,essv6265746,essv5593070,essv6163616,essv5899708,essv6149461,essv5530784,essv5461953,essv5899355 M 1151 0 129 "" HG00125,HG00136,HG00138,HG00139,HG00250,HG00254,HG00275,HG00276,HG00278,HG00281,HG00282,HG00309,HG00310,HG00320,HG00324,HG00325,HG00328,HG00334,HG00336,HG00337,HG00343,HG00375,HG00418,HG00419,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00533,HG00534,HG00537,HG00543,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00650,HG00651,HG00653,HG00654,HG00657,HG00663,HG00672,HG00689,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01052,HG01060,HG01070,HG01083,HG01108,HG01170,HG01171,HG01173,HG01334,HG01350,HG01351,HG01365,HG01390,HG01441,HG01492,NA18530,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18550,NA18557,NA18558,NA18559,NA18561,NA18570,NA18577,NA18582,NA18596,NA18597,NA18599,NA18602,NA18606,NA18610,NA18611,NA18612,NA18613,NA18622,NA18632,NA18637,NA18638,NA18964,NA19371,NA19375,NA19379,NA19381,NA19384,NA19390,NA19394,NA19404,NA19428,NA19720,NA19747 nsv3322613 1 2367790 2367790 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482111 M 14 1 0 "" CHM1 esv3560315 1 2367863 2367990 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759062 M 767 0 1 "" nsv3322614 1 2367864 2367926 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486509,nssv14480637,nssv14479366,nssv14489205,nssv14483779,nssv14487877 M 14 0 6 "" CHM13,HG00268,HG01352,HG02059,HG02106,HX1 nsv3322449 1 2367869 2367990 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476410,nssv14473664,nssv14472369,nssv14480766,nssv14474132,nssv14473223,nssv14480335 M 14 0 7 "" HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HX1 nsv998482 1 2369498 2458799 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479094 M 29084 0 1 PANK4,PLCH2 esv3444937 1 2371743 2372156 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652069 M 185 1 0 "" NA19240 nsv3322452 1 2371849 2371849 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485416,nssv14484515,nssv14474800,nssv14491345,nssv14483592,nssv14487217,nssv14478480,nssv14473595,nssv14485432 M 14 9 0 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1 nsv1129125 1 2371864 2371946 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3961801 M 2 1 0 "" KWS1 esv3683780 1 2371881 2372021 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468479 M 20 0 1 "" esv988545 1 2371950 2372019 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577413 M 3 0 1 "" HuRef dgv3e199 1 2371960 2374338 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2667055,esv2677055 M 1151 0 1 "" NA18574 esv1513739 1 2371997 2371997 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4248036 M 2 1 0 "" HuRef nsv3322618 1 2372021 2372021 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473815,nssv14476901,nssv14480655,nssv14488261,nssv14484334,nssv14473416,nssv14483518,nssv14485676 M 14 8 0 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG04217,HX1 nsv3322906 1 2372073 2372140 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481393,nssv14478599 M 14 0 2 "" CHM1,NA19434 nsv3322619 1 2372076 2372076 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482790 M 14 1 0 "" HG02106 nsv1145306 1 2372093 2372161 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982397 M 2 0 1 "" KWS1 nsv4045225 1 2372166 2374312 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850375 M 10847 0 1 "" esv3585025 1 2372200 2374164 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841607 M 2504 0 1 "" NA18574 esv3585026 1 2374226 2379823 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841608,essv9841625,essv9841624,essv9841615,essv9841610,essv9841609,essv9841614,essv9841611,essv9841613,essv9841612,essv9841618,essv9841623,essv9841616,essv9841617,essv9841619,essv9841622,essv9841621,essv9841620,essv9841631,essv9841626,essv9841630,essv9841627,essv9841629,essv9841628,essv9841633,essv9841632 M 2504 26 0 "" HG00130,HG00355,HG02087,HG02089,HG02301,HG02318,HG02479,HG02484,HG02485,NA12815,NA18525,NA18640,NA18643,NA18747,NA18749,NA18939,NA18946,NA18957,NA18993,NA19031,NA19035,NA19038,NA19086,NA19141,NA19184,NA19308 esv2758914 1 2376254 2380249 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757718 M 270 0 1 "" NA18508 nsv4050990 1 2382117 2382189 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965113 M 10847 1 0 "" esv25748 1 2390213 2391302 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 2390588 2450394 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708748 M 17421 0 1 PANK4,PLCH2 esv3560426 1 2390764 2390988 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759173 M 767 0 1 "" nsv1147208 1 2390777 2390986 CNV deletion John_et_al_2014 26484159 Sequencing nssv3999979 M 1 0 1 "" KWB1 nsv1121437 1 2390803 2390961 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965437 M 2 0 1 "" KWS2 esv2668467 1 2390806 2391052 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5920836,essv6536705,essv5934369,essv6015336,essv5506006,essv6519149,essv5602357,essv6394630,essv5415337,essv5963925,essv5914838,essv6281611,essv5923266,essv6512160,essv5581589,essv6406748,essv5843562,essv6203532,essv5775590,essv6409825,essv5547485,essv6409874,essv5780323,essv6029442,essv5835922,essv6416104,essv5447025,essv6494753,essv5519074,essv6551632,essv5929017,essv6425849,essv5640198,essv6185226,essv5879513,essv6284888,essv5735619,essv6459378,essv5425402,essv6569569,essv5505273,essv6090639,essv5804372,essv6296062,essv5688839,essv6051290,essv5897044,essv6107284,essv5738711,essv6090319,essv5456432,essv6219456,essv5555656,essv5995244,essv5844195,essv6318976,essv5807802,essv6057652,essv5865427,essv6055830,essv5859906,essv6504100,essv5558047,essv5964575,essv5551104,essv6226517,essv5710726,essv6072856,essv5551336,essv6081812,essv5821058,essv5994541,essv5914379,essv6224671,essv5684887,essv6057284,essv5538311,essv6325270,essv5613929,essv6068947,essv5475603,essv6221066,essv5875862,essv6486007,essv5815536,essv6551924,essv5519029,essv5990143,essv5753449,essv6014555,essv5478507,essv6363664,essv5825375,essv6364378,essv5438814,essv6365388,essv5538854,essv6180823,essv5448530,essv6105477,essv5501976,essv6475241,essv5505829,essv6540434,essv5948931,essv6247847,essv5726242,essv6141211,essv5613982,essv5987314,essv5744948,essv6123846,essv5563893,essv6238640,essv5598418,essv6577821,essv5471300,essv5984136,essv5684170,essv6096498,essv5755072,essv6544336,essv5631318,essv5492017,essv5546308,essv5476099,essv5575722,essv5809808,essv5551010,essv5887270,essv5689636,essv5403060 M 1151 0 132 "" HG00124,HG00125,HG00136,HG00138,HG00139,HG00159,HG00185,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00258,HG00260,HG00261,HG00268,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00310,HG00313,HG00315,HG00318,HG00320,HG00321,HG00323,HG00327,HG00334,HG00335,HG00337,HG00338,HG00339,HG00342,HG00345,HG00346,HG00375,HG00418,HG00419,HG00421,HG00422,HG00427,HG00437,HG00448,HG00476,HG00478,HG00479,HG00500,HG00501,HG00513,HG00524,HG00536,HG00537,HG00543,HG00557,HG00581,HG00584,HG00589,HG00613,HG00650,HG00651,HG00654,HG00662,HG00663,HG00684,HG00690,HG00692,HG00693,HG00699,HG00704,HG00740,HG01048,HG01052,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01080,HG01082,HG01083,HG01101,HG01102,HG01107,HG01170,HG01171,HG01204,HG01334,HG01350,HG01353,HG01357,HG01374,HG01375,HG01390,HG01440,HG01441,HG01462,HG01488,NA12003,NA18532,NA18542,NA18543,NA18549,NA18557,NA18566,NA18570,NA18572,NA18596,NA18597,NA18599,NA18610,NA18613,NA18621,NA18623,NA18624,NA18633,NA18636,NA18964,NA19257,NA19372,NA19374,NA19379,NA19770,NA20543 nsv3322477 1 2390866 2390961 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490886,nssv14491048,nssv14488546 M 14 0 3 "" CHM13,HG00733,HX1 esv3683824 1 2390889 2391082 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468518 M 20 0 1 "" esv3683885 1 2393451 2393639 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468573 M 20 0 1 "" esv989190 1 2393688 2393688 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3583245 M 3 1 0 "" HuRef nsv3323095 1 2393690 2393690 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474732 M 14 1 0 "" CHM1 esv1307242 1 2393777 2393777 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3609131 M 2 1 0 "" HuRef nsv545080 1 2395452 2485433 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708749 M 17421 0 1 HES5,LOC115110,PANK4,PLCH2 esv3585028 1 2397655 2401469 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841727,essv9841726,essv9841725,essv9841724,essv9841658,essv9841723,essv9841640,essv9841657,essv9841634,essv9841639,essv9841635,essv9841638,essv9841637,essv9841636,essv9841642,essv9841647,essv9841656,essv9841641,essv9841646,essv9841643,essv9841645,essv9841644,essv9841650,essv9841655,essv9841649,essv9841648,essv9841651,essv9841654,essv9841653,essv9841652,essv9841689,essv9841672,essv9841663,essv9841660,essv9841659,essv9841662,essv9841661,essv9841722,essv9841666,essv9841664,essv9841671,essv9841665,essv9841670,essv9841667,essv9841669,essv9841668,essv9841674,essv9841679,essv9841673,essv9841688,essv9841678,essv9841675,essv9841677,essv9841676,essv9841682,essv9841687,essv9841681,essv9841680,essv9841683,essv9841686,essv9841685,essv9841684,essv9841695,essv9841704,essv9841721,essv9841691,essv9841694,essv9841690,essv9841693,essv9841692,essv9841703,essv9841698,essv9841697,essv9841696,essv9841702,essv9841699,essv9841701,essv9841700,essv9841706,essv9841705,essv9841711,essv9841720,essv9841710,essv9841707,essv9841709,essv9841708,essv9841714,essv9841719,essv9841713,essv9841712,essv9841715,essv9841718,essv9841717,essv9841716,essv9841729,essv9841728 M 2504 96 0 "" HG00097,HG00099,HG00128,HG00130,HG00234,HG00350,HG00355,HG00437,HG00982,HG01344,HG01345,HG01626,HG01630,HG01880,HG01915,HG02002,HG02060,HG02082,HG02084,HG02087,HG02089,HG02090,HG02104,HG02134,HG02138,HG02139,HG02140,HG02141,HG02277,HG02278,HG02285,HG02301,HG02479,HG02484,HG02485,HG02497,HG02508,NA12812,NA12872,NA12874,NA18574,NA18640,NA18642,NA18643,NA18645,NA18647,NA18745,NA18748,NA18749,NA18757,NA18979,NA19007,NA19028,NA19031,NA19035,NA19041,NA19068,NA19086,NA19096,NA19121,NA19149,NA19184,NA19307,NA19308,NA19309,NA19310,NA19314,NA19316,NA19338,NA19346,NA19350,NA19355,NA19376,NA19397,NA19401,NA19438,NA19466,NA19625,NA19663,NA19703,NA19734,NA19735,NA19740,NA19794,NA19916,NA19920,NA19923,NA19984,NA20298,NA20339,NA21106,NA21107,NA21108,NA21109,NA21112,NA21119 nsv545081 1 2406887 2446880 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172585 M 17421 0 1 PANK4,PLCH2 HGDP01048 nsv4044000 1 2408000 2415000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965128 M 10847 1 0 PLCH2 nsv823920 1 2413744 2483841 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440793 M 31 1 0 HES5,LOC115110,PANK4,PLCH2 NA18969 nsv3322562 1 2415275 2415341 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487017,nssv14483534,nssv14488279 M 14 0 3 PLCH2 CHM1,HG00268,NA12878 nsv3323694 1 2415307 2415395 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474300,nssv14489478,nssv14487211 M 14 0 3 PLCH2 HG00268,HG01352,NA12878 nsv3323695 1 2415398 2415462 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483188 M 14 0 1 PLCH2 HG00514 esv3683914 1 2416985 2417070 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468600 M 20 0 1 PLCH2 nsv818222 1 2424122 2485433 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417806,nssv1417514 M 112 0 2 HES5,LOC115110,PANK4,PLCH2 NA18853,NA18968 nsv4035785 1 2432000 2439000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965143 M 10847 1 0 PLCH2 nsv7171 1 2443998 2538071 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10864,nssv4052,nssv9287,nssv5743,nssv10880,nssv4140,nssv2141,nssv1241,nssv6533,nssv9849,nssv2047,nssv9802,nssv6621,nssv10990,nssv1153,nssv5821 M 9 0 0 FAM213B,HES5,LOC100133445,LOC115110,MMEL1,PANK4,TNFRSF14 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv1122281 1 2450828 2450884 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969734 M 2 0 1 PANK4 KWS2 nsv824031 1 2452239 2483097 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426366 M 31 1 0 HES5,LOC115110,PANK4 AK6 esv2583485 1 2453635 2454448 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5387623 M 1 1 0 PANK4 NA18507 nsv1119397 1 2454096 2454189 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3959839 M 2 1 0 PANK4 KWS1 dgv15n106 1 2454148 2454255 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1125448,nsv1133123 M 2 2 0 PANK4 KWS1,KWS2 esv3402792 1 2454213 2454431 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652074 M 185 1 0 PANK4 NA19240 nsv1126965 1 2454224 2454290 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985252 M 2 0 1 PANK4 KWS1 nsv3323422 1 2454231 2454231 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480124,nssv14474927,nssv14476073,nssv14489317,nssv14479336,nssv14477456,nssv14479332,nssv14486215,nssv14473747,nssv14484189,nssv14473467,nssv14475359,nssv14488464,nssv14479451 M 14 14 0 PANK4 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1165961 1 2454255 2454255 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3796592 M 2 1 0 PANK4 HuRef nsv1145307 1 2454311 2454376 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982398 M 2 0 1 PANK4 KWS1 nsv1116581 1 2454376 2454441 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978763 M 2 1 0 PANK4 KWS2 nsv1 1 2456590 2485433 OTHER inversion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv1 M 1 0 0 HES5,LOC115110,PANK4 NA15510 nsv545082 1 2467670 2528682 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708750 M 17421 0 1 FAM213B,LOC100133445,LOC115110,MMEL1,TNFRSF14 nsv4035470 1 2470804 2470932 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850205 M 10847 0 1 "" nsv4042051 1 2472062 2472253 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850214 M 10847 0 1 "" nsv436691 1 2485434 2497301 OTHER inversion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466250 M 2 0 0 LOC100133445,TNFRSF14 NA18505 esv3447351 1 2485434 2498910 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808959 M 185 0 0 LOC100133445,TNFRSF14 NA12878 dgv1n47 1 2485434 2499127 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nsv499113,nsv499569,nsv499637 M 9 0 0 LOC100133445,TNFRSF14 dgv1n50 1 2485434 2499127 OTHER inversion Arlt_et_al_2011 21212237 Sequencing,SNP array nsv513632,nsv513633 M 1 0 0 LOC100133445,TNFRSF14 1 esv1699286 1 2485434 2499127 OTHER inversion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4270452 M 2 0 0 LOC100133445,TNFRSF14 HuRef esv2471749 1 2485434 2499127 OTHER inversion McKernan_et_al_2009 19546169 Sequencing essv5165573 M 1 0 0 LOC100133445,TNFRSF14 NA18507 nsv4517104 1 2490559 2490844 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850223 M 10847 0 1 TNFRSF14 nsv824475 1 2493012 2493455 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431952 M 31 0 1 TNFRSF14 NA18972 nsv824364 1 2493012 2494114 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434859 M 31 0 1 TNFRSF14 NA18942 nsv951592 1 2496301 2545400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997281 M 1 0 1 FAM213B,MMEL1 BILGI_BIOE dgv5n67 1 2496335 2497984 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv824253,nsv824142 M 31 0 2 "" AK20,NA18972 nsv829648 1 2499128 2572340 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1450739 M 95 0 1 FAM213B,MMEL1 esv3582248 1 2501338 2567987 CNV gain Uddin_et_al_2014 25503493 SNP array essv9783422 M 873 1 0 FAM213B,MMEL1 401288LD nsv545083 1 2507415 2584538 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708751 M 17421 1 0 FAM213B,MMEL1,TTC34 nsv4046271 1 2511962 2512569 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850234 M 10847 0 1 "" nsv4035586 1 2514645 2514743 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850244 M 10847 0 1 "" nsv4033420 1 2516000 2521000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963269 M 10847 1 0 FAM213B nsv4048262 1 2517761 2517953 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850251 M 10847 0 1 FAM213B nsv4037398 1 2523000 2528000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963279 M 10847 1 0 MMEL1 nsv1136059 1 2523700 2524100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989664 M 2 0 1 MMEL1 KWS2 nsv3323426 1 2523746 2523817 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488162 M 14 0 1 MMEL1 HG02818 nsv3324119 1 2523818 2524048 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490393,nssv14475295,nssv14474240,nssv14484563,nssv14473001,nssv14482100,nssv14475985,nssv14487712,nssv14484129 M 14 0 9 MMEL1 HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240,NA19434 esv3585029 1 2524546 2527727 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841730 M 2504 0 1 MMEL1 HG04225 nsv4040440 1 2528903 2538993 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851011 M 10847 0 1 MMEL1 nsv1144338 1 2531202 2531267 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995082 M 2 0 1 MMEL1 KWS1 esv3665961 1 2531650 2531650 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488569 M 20 1 0 MMEL1 esv3666029 1 2532162 2532162 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488630 M 20 1 0 MMEL1 nsv4534444 1 2533554 2533555 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028730 M 10847 1 0 MMEL1 nsv3323724 1 2533604 2533604 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472541,nssv14491686,nssv14475412,nssv14479462,nssv14478962,nssv14477000,nssv14486135,nssv14472858 M 14 8 0 MMEL1 HG00268,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240,NA19434 esv3684032 1 2539584 2539636 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468705 M 20 0 1 MMEL1 nsv428399 1 2553978 3152490 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv452575 M 62 1 0 ACTRT2,LINC00982,MIR4251,MMEL1,PRDM16,TTC34 HGDP00450 nsv951593 1 2559501 2577400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997292 M 1 0 1 MMEL1,TTC34 BILGI_BIOE dgv19e59 1 2561592 2562790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3368203,esv3399585 M 185 2 0 MMEL1 NA19239,NA19240 nsv4034687 1 2562058 2562132 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851030 M 10847 0 1 MMEL1 esv21805 1 2565924 2634182 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 2566002 2566482 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626021 M 1 0 1 "" 1 esv1931226 1 2566029 2566723 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4612274 M 1 0 1 "" NA18507 nsv3324122 1 2566132 2566181 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481561,nssv14485796,nssv14472306 M 14 0 3 "" CHM13,HG00514,NA19240 esv3684070 1 2566181 2566584 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468740 M 20 0 1 "" esv2669821 1 2566195 2566623 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6558785,essv5415958,essv6394674,essv5558599,essv6162007,essv5972540,essv6541573,essv5607775,essv6230234,essv5433007,essv6088009,essv5713670,essv6517570,essv5462610,essv6489999,essv5790573,essv6431904,essv5552992,essv6090582,essv5601616,essv6068516,essv5711594,essv6443064,essv5517716,essv6115352,essv5759687,essv5997909,essv5483427,essv6059728,essv5471160,essv6451395,essv5788468,essv6217295,essv5936146,essv6041178,essv5816058,essv6083878,essv5679435,essv6488723,essv5716031,essv6081713,essv5608652,essv6132494,essv5752773,essv6169758,essv5938131,essv6169480,essv5814263,essv6594080,essv5980680,essv6520633,essv5693082,essv6273379,essv5522908,essv6328384,essv5861950,essv6289413,essv5546957,essv6331001,essv5842808,essv6034164,essv5411742,essv6109200,essv5639073,essv6025747,essv5900200,essv6160881,essv5946004,essv6237014,essv5655408,essv6568242,essv5796693,essv6339798,essv5702203,essv6526087,essv5838103,essv6078969,essv5539969,essv6144433,essv5501129,essv6351205,essv5774401,essv6204263,essv5463132,essv6519108,essv5481367,essv6483210,essv5659713,essv6588197,essv5484855,essv6016573,essv5884891,essv6075008,essv5741752,essv6363573,essv5837505,essv6363658,essv5568489,essv6368487,essv5690458,essv6039374,essv5666396,essv6370619,essv5721497,essv6000041,essv5502647,essv6376974,essv5771945,essv6090000,essv5897265,essv6529647,essv6521997,essv6393770 M 1151 0 113 "" HG00100,HG00103,HG00108,HG00111,HG00112,HG00123,HG00133,HG00136,HG00137,HG00152,HG00174,HG00180,HG00232,HG00236,HG00237,HG00243,HG00250,HG00275,HG00284,HG00285,HG00313,HG00328,HG00331,HG00336,HG00342,HG00346,HG00369,HG00478,HG00512,HG00543,HG00610,HG00613,HG00654,HG00684,HG00692,HG00693,HG00704,HG00734,HG01047,HG01055,HG01066,HG01069,HG01082,HG01124,HG01134,HG01136,HG01140,HG01334,HG01354,HG01356,HG01359,HG01441,HG01461,HG01521,NA07051,NA11930,NA12154,NA12282,NA12717,NA12748,NA12778,NA12829,NA12830,NA18489,NA18520,NA18542,NA18550,NA18566,NA18579,NA18612,NA18616,NA19093,NA19102,NA19130,NA19213,NA19313,NA19315,NA19317,NA19331,NA19372,NA19377,NA19394,NA19399,NA19403,NA19438,NA19439,NA19443,NA19455,NA19463,NA19468,NA19625,NA19663,NA19675,NA19676,NA19678,NA19685,NA19703,NA19818,NA19920,NA20299,NA20332,NA20341,NA20356,NA20516,NA20525,NA20530,NA20582,NA20757,NA20768,NA20778,NA20795,NA20818,NA20819 esv3560981 1 2566218 2566635 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759728 M 767 0 1 "" nsv3323428 1 2566232 2566583 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480945,nssv14490397,nssv14479974,nssv14473069 M 14 0 4 "" CHM13,HG00514,HX1,NA19240 nsv3323227 1 2566498 2566498 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481252,nssv14488831 M 14 2 0 "" CHM1,NA12878 esv1624207 1 2566517 2566517 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4164733 M 2 1 0 "" HuRef nsv3323228 1 2566536 2566536 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481483 M 14 1 0 "" HX1 esv994553 1 2572467 2584079 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565426 M 3 1 0 TTC34 HuRef nsv4038782 1 2575891 2580043 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851041 M 10847 0 1 TTC34 nsv824586 1 2580468 2583441 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1438579 M 31 1 0 TTC34 NA18973 nsv1149955 1 2581299 2634200 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998741 M 1 1 0 TTC34 KWB1 dgv16n106 1 2581400 2634200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1124558,nsv1132276 M 2 2 0 TTC34 KWS1,KWS2 nsv545084 1 2582041 2586303 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708752 M 17421 0 1 TTC34 nsv4050727 1 2582157 2583466 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963294 M 10847 1 0 TTC34 nsv545085 1 2582340 2586303 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708753 M 17421 1 0 TTC34 nsv161117 1 2583029 2583595 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179695 M 24 TTC34 dgv20e59 1 2583092 2634190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3380852,esv3450152,esv3350831,esv3429744,esv3414646,esv3435510 M 185 6 0 TTC34 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv3684100 1 2583447 2583850 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468767 M 20 0 1 TTC34 nsv1122282 1 2583461 2583511 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967956,nssv3995083 M 2 0 2 TTC34 KWS1,KWS2 nsv1075768 1 2583499 2631900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3772286 M 1 1 0 TTC34 KWP1 nsv951028 1 2583501 2587500 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997303 M 1 1 0 TTC34 BILGI_BIOE nsv3323230 1 2583557 2583557 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487473,nssv14476125,nssv14490610,nssv14489241,nssv14488583,nssv14490112,nssv14484514 M 14 7 0 TTC34 CHM13,HG01352,HG02059,HG02818,HG04217,NA12878,NA19240 dgv1n6 1 2583559 2591089 CNV deletion Mills_et_al_2006 16902084 Sequencing nsv160178,nsv160392 M 24 TTC34 esv1381913 1 2583570 2583570 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4214883 M 2 1 0 TTC34 HuRef nsv820462 1 2583600 2634182 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420513 M 1 1 0 TTC34 NA10851 nsv160953 1 2583700 2584300 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179531 M 24 TTC34 nsv3323730 1 2583725 2583804 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477292 M 14 0 1 TTC34 HX1 nsv1076882 1 2583790 2629372 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764396 M 1 0 1 TTC34 KWP1 dgv1e215 1 2583806 2627977 CNV deletion Boomsma_et_al_2014 23714750 Sequencing esv3561093,esv3561204 M 767 0 2 TTC34 dgv17n106 1 2583869 2626376 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1130627,nsv1108895,nsv1120226 M 2 0 2 TTC34 KWS1,KWS2 nsv160689 1 2583932 2584533 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179267 M 24 TTC34 nsv3323429 1 2584005 2584005 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481657 M 14 1 0 TTC34 HX1 esv999533 1 2584227 2585069 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3568762 M 3 0 1 TTC34 HuRef nsv159794 1 2584646 2586332 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178372 M 24 TTC34 nsv1116582 1 2584706 2585081 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962907,nssv3983622 M 2 2 0 TTC34 KWS1,KWS2 nsv159997 1 2584875 2585035 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178575 M 24 TTC34 nsv1137717 1 2585064 2586308 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990218 M 2 0 1 TTC34 KWS2 nsv3323231 1 2585109 2585109 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481535 M 14 1 0 TTC34 HG00514 nsv3323232 1 2585125 2585125 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478135,nssv14481998 M 14 2 0 TTC34 HG02059,HG04217 nsv3324124 1 2585136 2585136 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479459 M 14 1 0 TTC34 HG00514 nsv160053 1 2585307 2585307 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178631 M 24 TTC34 nsv3323233 1 2585328 2585328 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491994 M 14 1 0 TTC34 HG00514 dgv4e199 1 2585445 2587423 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2668155,esv2657692 M 1151 0 2 TTC34 NA18616,NA19223 nsv1142047 1 2585469 2585549 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978764,nssv3987941 M 2 2 0 TTC34 KWS1,KWS2 nsv3323234 1 2585512 2585631 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484249 M 14 0 1 TTC34 HG00514 esv8624 1 2585635 2629436 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31065 M 1 0 0 TTC34 nsv1133124 1 2585811 2590064 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987942 M 2 1 0 TTC34 KWS1 nsv3323235 1 2586087 2586405 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480922 M 14 0 1 TTC34 HX1 nsv3323236 1 2586111 2586231 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14799268 M 14 0 1 TTC34 HG00514 dgv5e199 1 2586186 2616318 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2659426,esv2662334,esv2674419 M 1151 0 8 TTC34 HG00635,HG01516,NA12399,NA18943,NA18982,NA19085,NA19756,NA19780 nsv545086 1 2586303 2613462 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708754 M 17421 0 1 TTC34 dgv51n54 1 2586303 2627467 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545088,nsv545090,nsv545091,nsv545089,nsv545087 M 17421 0 5 TTC34 nsv3323731 1 2586409 2586409 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480970 M 14 1 0 TTC34 HG00514 nsv3324125 1 2586438 2586717 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474042,nssv14489498 M 14 0 2 TTC34 CHM13,NA12878 nsv3323732 1 2586444 2586444 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484864 M 14 1 0 TTC34 HG00514 nsv3324126 1 2586552 2586552 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475675 M 14 1 0 TTC34 HG00514 nsv3323237 1 2586608 2586608 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488180 M 14 1 0 TTC34 HG00514 nsv3323430 1 2586688 2586966 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478013,nssv14484344 M 14 0 2 TTC34 CHM13,NA12878 nsv3324127 1 2586710 2586831 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477715 M 14 0 1 TTC34 HG00514 nsv3323431 1 2586871 2586871 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487641 M 14 1 0 TTC34 HG02059 nsv3323238 1 2586895 2586895 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490204 M 14 1 0 TTC34 HG00514 nsv3324128 1 2586974 2587214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476646 M 14 0 1 TTC34 HX1 nsv3323432 1 2586975 2587054 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484300 M 14 0 1 TTC34 HG02059 nsv3323239 1 2587172 2587172 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478959,nssv14488233,nssv14482070 M 14 3 0 TTC34 HG00514,HG02059,HG04217 nsv3323240 1 2587293 2587293 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488808 M 14 1 0 TTC34 HG00514 nsv3323733 1 2587514 2587514 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488273 M 14 1 0 TTC34 HG02059 nsv3323734 1 2587558 2587558 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473347 M 14 1 0 TTC34 HG02059 nsv3323241 1 2587574 2587574 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480499 M 14 1 0 TTC34 HG00514 nsv3324129 1 2587650 2587772 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486425,nssv14487304,nssv14488957 M 14 0 3 TTC34 HG00514,HG02059,NA19434 esv1995006 1 2587683 2609385 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4845344 M 1 0 1 TTC34 NA18507 nsv3324130 1 2587775 2587775 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486550 M 14 1 0 TTC34 HG00514 esv999575 1 2587780 2620255 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575600 M 3 0 1 TTC34 HuRef nsv1122283 1 2587800 2587880 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969735 M 2 0 1 TTC34 KWS2 nsv3323735 1 2587983 2588143 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481447 M 14 0 1 TTC34 HX1 nsv3323433 1 2588003 2588003 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480990,nssv14481000,nssv14472946,nssv14486352,nssv14488070,nssv14476253 M 14 6 0 TTC34 CHM1,CHM13,HG02059,HG02818,HG04217,NA12878 nsv3323242 1 2588086 2588086 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490635 M 14 1 0 TTC34 CHM1 nsv3323434 1 2588392 2588512 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489628,nssv14475597,nssv14490402 M 14 0 3 TTC34 CHM13,HG02818,HX1 nsv3324131 1 2588610 2588610 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478454 M 14 1 0 TTC34 HG02818 nsv3323736 1 2588762 2589000 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473154,nssv14491363,nssv14488465,nssv14472361 M 14 0 4 TTC34 CHM13,HG01352,HG02059,HX1 nsv3323737 1 2588818 2588897 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478846 M 14 0 1 TTC34 CHM1 nsv3323738 1 2589001 2589080 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485499,nssv14487194 M 14 0 2 TTC34 CHM13,HG02818 nsv3323739 1 2589099 2589099 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477406,nssv14486289,nssv14485131 M 14 3 0 TTC34 CHM13,HG02059,HG02818 nsv5853 1 2589270 2614433 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9998,nssv5901 M 9 2 0 TTC34 NA18956,NA19129 nsv3324132 1 2589344 2589344 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484699 M 14 1 0 TTC34 HG02059 nsv3324133 1 2589495 2589694 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486763,nssv14485267 M 14 0 2 TTC34 CHM13,HG01352 nsv3323435 1 2589622 2589702 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489657 M 14 0 1 TTC34 HG02059 nsv3323243 1 2590087 2590087 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490653 M 14 1 0 TTC34 CHM13 nsv3324134 1 2590125 2590605 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487408 M 14 0 1 TTC34 CHM13 nsv3323244 1 2590145 2590145 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488529 M 14 1 0 TTC34 HG02818 nsv3323245 1 2590259 2590259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487465 M 14 1 0 TTC34 HG02059 nsv3323436 1 2590295 2590414 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482212,nssv14475959,nssv14483161 M 14 0 3 TTC34 CHM1,HG02059,HX1 nsv3324135 1 2590652 2590652 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476845 M 14 1 0 TTC34 HG02059 nsv3324136 1 2590743 2590743 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477995,nssv14475340 M 14 2 0 TTC34 CHM13,HG02059 nsv3323246 1 2590850 2590850 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481837,nssv14483376,nssv14475166 M 14 3 0 TTC34 CHM1,CHM13,NA19434 nsv3323740 1 2591051 2591130 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483913 M 14 0 1 TTC34 HG02059 nsv3324138 1 2591192 2591312 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483593 M 14 0 1 TTC34 HG02059 nsv3323741 1 2591496 2591496 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490229 M 14 1 0 TTC34 HG00514 nsv3323247 1 2591916 2592597 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487996 M 14 0 1 TTC34 HG00733 nsv3323742 1 2592070 2592070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485904 M 14 1 0 TTC34 HG00514 nsv3323248 1 2592306 2592306 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489777 M 14 1 0 TTC34 HG00514 nsv3323743 1 2592414 2592414 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482461 M 14 1 0 TTC34 HG00514 nsv3323437 1 2592718 2592718 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481964 M 14 1 0 TTC34 HG00514 nsv3323438 1 2592862 2593544 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484657 M 14 0 1 TTC34 CHM1 esv1159004 1 2593247 2593247 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3785302 M 2 1 0 TTC34 HuRef esv1780740 1 2593705 2593786 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4117042 M 2 0 1 TTC34 HuRef esv1286791 1 2593876 2593956 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3745617 M 2 0 1 TTC34 HuRef esv1001627 1 2593895 2594777 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584427 M 3 0 1 TTC34 HuRef nsv3323439 1 2593898 2594780 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487393 M 14 0 1 TTC34 CHM1 nsv3323744 1 2594077 2595601 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481015,nssv14483986,nssv14477525 M 14 0 3 TTC34 HG00733,HG04217,NA19240 nsv3324139 1 2594260 2594260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478455,nssv14473227,nssv14472719,nssv14483883,nssv14479942,nssv14472328,nssv14473263 M 14 7 0 TTC34 CHM13,HG00514,HG00733,HG02059,HG04217,NA19240,NA19434 nsv3323249 1 2594467 2594467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481367,nssv14485192,nssv14472594,nssv14475780,nssv14472259,nssv14482533,nssv14485361 M 14 7 0 TTC34 CHM13,HG00514,HG00733,HG02059,HG04217,NA19240,NA19434 nsv3324140 1 2594849 2595209 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476322 M 14 0 1 TTC34 CHM1 nsv3324142 1 2595141 2595221 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491417 M 14 0 1 TTC34 CHM1 nsv3323440 1 2595371 2595371 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481194 M 14 1 0 TTC34 CHM1 nsv3324144 1 2595385 2595464 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484026 M 14 0 1 TTC34 CHM1 esv1366162 1 2595413 2595493 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3788684 M 2 0 1 TTC34 HuRef esv1701153 1 2595518 2595757 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4138724 M 2 0 1 TTC34 HuRef nsv3323441 1 2595791 2596111 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475200,nssv14489813,nssv14490262 M 14 0 3 TTC34 HG00733,HG04217,NA19240 nsv3324145 1 2596077 2596077 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488308 M 14 1 0 TTC34 CHM1 nsv3323251 1 2596111 2596111 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479026 M 14 1 0 TTC34 CHM1 nsv3323252 1 2596112 2596112 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489229 M 14 1 0 TTC34 HG00514 nsv3324146 1 2596347 2596347 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474554 M 14 1 0 TTC34 CHM1 nsv3323253 1 2596464 2596623 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485727 M 14 0 1 TTC34 CHM1 nsv3323442 1 2596585 2597107 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474533 M 14 0 1 TTC34 HG00514 nsv3324147 1 2596646 2596766 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479275 M 14 0 1 TTC34 CHM1 nsv3323254 1 2596734 2596814 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475255 M 14 0 1 TTC34 NA19434 esv990905 1 2596753 2606586 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3573398 M 3 0 1 TTC34 HuRef nsv3323255 1 2596759 2596960 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473792 M 14 0 1 TTC34 HG00733 nsv3323443 1 2596791 2596791 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477963 M 14 1 0 TTC34 CHM1 nsv3323444 1 2596823 2596823 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485595 M 14 1 0 TTC34 NA19240 esv1348726 1 2596826 2596826 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4133439 M 2 1 0 TTC34 HuRef nsv3323256 1 2596846 2596846 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473248 M 14 1 0 TTC34 NA19240 nsv3323257 1 2596862 2597382 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476061 M 14 0 1 TTC34 NA19434 nsv3323445 1 2596869 2597029 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488552 M 14 0 1 TTC34 HG04217 esv992616 1 2596961 2601374 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3581681 M 3 0 1 TTC34 HuRef nsv3323446 1 2597048 2597048 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477630 M 14 1 0 TTC34 HG00514 nsv3324148 1 2597211 2597211 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473288 M 14 1 0 TTC34 HG00514 nsv3323258 1 2597234 2597234 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479872 M 14 1 0 TTC34 HG00514 nsv3324149 1 2597235 2597475 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476286,nssv14479263 M 14 0 2 TTC34 HG00733,HG04217 nsv3323746 1 2597328 2597328 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483463 M 14 1 0 TTC34 HG00514 esv1068112 1 2597548 2597548 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3882975 M 2 1 0 TTC34 HuRef nsv3323447 1 2597669 2598151 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479671,nssv14486667 M 14 0 2 TTC34 HG00733,HG04217 nsv3323448 1 2597685 2597806 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479897 M 14 0 1 TTC34 CHM1 nsv3324150 1 2597850 2602466 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474349 M 14 0 1 TTC34 HG02059 nsv3323449 1 2598024 2598104 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482714 M 14 0 1 TTC34 CHM1 esv1134902 1 2598419 2598499 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3644540 M 2 0 1 TTC34 HuRef nsv3324151 1 2598514 2599396 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480605,nssv14485296,nssv14484739 M 14 0 3 TTC34 CHM1,HG00733,HG04217 nsv3323450 1 2598693 2600217 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482961,nssv14483641 M 14 0 2 TTC34 CHM13,NA19240 nsv3323259 1 2598876 2598876 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477273,nssv14491706,nssv14473997,nssv14480009,nssv14479950,nssv14486196 M 14 6 0 TTC34 CHM13,HG00514,HG00733,HG02059,HG04217,NA19434 nsv3324152 1 2598940 2613039 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14485797,nssv14482433,nssv14490439,nssv14480395,nssv14486778,nssv14484346,nssv14485078 M 14 7 0 TTC34 HG00268,HG00733,HG02059,HG02106,HG02818,HG04217,NA19434 nsv3323747 1 2599083 2599083 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475860,nssv14482948,nssv14477520,nssv14485494 M 14 4 0 TTC34 CHM13,HG00514,HG04217,NA19434 nsv3323748 1 2599097 2599217 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472491 M 14 0 1 TTC34 HX1 esv1460747 1 2599458 2599578 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860280 M 2 0 1 TTC34 HuRef nsv3324153 1 2599498 2600259 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489163 M 14 0 1 TTC34 HG00733 nsv3324154 1 2600154 2600634 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481075 M 14 0 1 TTC34 CHM1 esv1312498 1 2600237 2600477 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4349278 M 2 0 1 TTC34 HuRef nsv3323260 1 2600407 2600727 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483519,nssv14483451 M 14 0 2 TTC34 CHM13,HG04217 nsv3323451 1 2600740 2600740 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474658 M 14 1 0 TTC34 HG04217 nsv3324155 1 2601080 2601239 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483768 M 14 0 1 TTC34 CHM1 nsv3323452 1 2601262 2601382 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477190 M 14 0 1 TTC34 CHM1 nsv3323749 1 2601331 2601411 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489719 M 14 0 1 TTC34 CHM1 nsv3323453 1 2601368 2601929 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473474,nssv14490755,nssv14488172,nssv14486494 M 14 0 4 TTC34 HG00514,HG02059,HG04217,NA19434 esv997173 1 2601369 2601930 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566822 M 3 0 1 TTC34 HuRef nsv3323750 1 2601445 2601647 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483704 M 14 0 1 TTC34 CHM1 nsv3323751 1 2601471 2601471 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484639 M 14 1 0 TTC34 HG04217 nsv3323752 1 2602335 2603019 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483060 M 14 0 1 TTC34 CHM1 esv1162144 1 2602836 2603358 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3966245 M 2 0 1 TTC34 HuRef nsv3323454 1 2603118 2604562 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476805 M 14 0 1 TTC34 CHM1 nsv3323753 1 2603143 2603622 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488849 M 14 0 1 TTC34 HG04217 nsv3324156 1 2603166 2603266 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486136 M 14 0 1 TTC34 CHM1 nsv3323754 1 2603405 2603464 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486505 M 14 0 1 TTC34 CHM1 nsv3323455 1 2603492 2603572 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487795 M 14 0 1 TTC34 CHM1 nsv3323755 1 2603598 2603598 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14486362 M 14 1 0 TTC34 CHM1 nsv3323456 1 2603747 2603828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477228 M 14 0 1 TTC34 CHM1 nsv3323457 1 2603830 2604029 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486543 M 14 0 1 TTC34 CHM1 nsv3324157 1 2604230 2604390 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476035 M 14 0 1 TTC34 CHM13 nsv3323756 1 2604236 2604236 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477947 M 14 1 0 TTC34 CHM1 nsv3323757 1 2604326 2604326 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476670 M 14 1 0 TTC34 CHM1 nsv3323758 1 2604352 2604432 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490228 M 14 0 1 TTC34 CHM1 esv1394797 1 2604440 2604521 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4279125 M 2 0 1 TTC34 HuRef nsv3324158 1 2604481 2604481 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478058 M 14 1 0 TTC34 CHM1 nsv160294 1 2604481 2609056 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178872 M 24 TTC34 nsv3323458 1 2604552 2604792 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486358,nssv14485018 M 14 0 2 TTC34 CHM1,HG00733 nsv3324159 1 2604563 2604563 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479600 M 14 1 0 TTC34 CHM1 nsv3324160 1 2604639 2604639 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478660 M 14 1 0 TTC34 CHM1 nsv3323261 1 2604695 2605015 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475138,nssv14473507,nssv14476492 M 14 0 3 TTC34 CHM1,CHM13,HG00733 nsv3323759 1 2604935 2605015 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478845 M 14 0 1 TTC34 CHM1 nsv3323530 1 2605004 2605004 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474194 M 14 1 0 TTC34 CHM1 nsv3323760 1 2605179 2605258 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475002 M 14 0 1 TTC34 CHM1 esv1779754 1 2605181 2605181 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3803937 M 2 1 0 TTC34 HuRef nsv3323459 1 2605520 2606562 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478779,nssv14481442,nssv14487126 M 14 0 3 TTC34 CHM1,CHM13,HG00733 nsv3323761 1 2605871 2605871 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474347 M 14 1 0 TTC34 CHM1 nsv3324161 1 2605905 2605905 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491101 M 14 1 0 TTC34 CHM1 nsv3323762 1 2605999 2605999 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475066 M 14 1 0 TTC34 CHM1 nsv3324162 1 2606056 2606056 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14487554 M 14 1 0 TTC34 CHM1 nsv3323460 1 2606155 2606155 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485572 M 14 1 0 TTC34 CHM1 nsv3323763 1 2606273 2606352 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479840 M 14 0 1 TTC34 CHM1 nsv3323764 1 2606553 2606553 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486204,nssv14475153,nssv14473972,nssv14483351,nssv14486200 M 14 5 0 TTC34 CHM13,HG00514,HG02059,HG04217,NA19240 nsv3323765 1 2606635 2606635 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485899 M 14 1 0 TTC34 HG04217 nsv3323766 1 2606991 2607675 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486875 M 14 0 1 TTC34 CHM1 nsv3323262 1 2607171 2607171 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484163 M 14 1 0 TTC34 HG04217 nsv3323263 1 2607749 2607828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485867 M 14 0 1 TTC34 HG04217 nsv3323461 1 2607766 2607766 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484892 M 14 1 0 TTC34 CHM1 nsv3323767 1 2607797 2607797 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480673 M 14 1 0 TTC34 CHM1 nsv3323768 1 2607822 2607922 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474964 M 14 0 1 TTC34 CHM1 nsv3324163 1 2607843 2607843 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490686 M 14 1 0 TTC34 CHM1 nsv3323462 1 2608061 2608120 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485110 M 14 0 1 TTC34 CHM1 nsv3324164 1 2608148 2608228 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474596 M 14 0 1 TTC34 CHM1 nsv3323463 1 2608486 2608685 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477880 M 14 0 1 TTC34 CHM1 nsv3324165 1 2608527 2608624 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489345 M 14 0 1 TTC34 CHM1 nsv3323264 1 2608737 2609539 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489621 M 14 0 1 TTC34 HG00733 nsv3324166 1 2608759 2608921 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486074 M 14 0 1 TTC34 CHM1 nsv3323464 1 2608892 2608892 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482204 M 14 1 0 TTC34 CHM1 nsv3323769 1 2609008 2609088 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491506 M 14 0 1 TTC34 CHM1 nsv3323265 1 2609137 2609137 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488358 M 14 1 0 TTC34 CHM1 esv2672332 1 2609210 2626391 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5654815,essv5828566 M 1151 0 2 TTC34 HG00313,NA19380 nsv3323465 1 2609228 2609468 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14808469 M 14 0 1 TTC34 CHM1 nsv3323466 1 2609229 2609789 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475196,nssv14489242 M 14 0 2 TTC34 CHM1,HG00733 nsv3324167 1 2609359 2609359 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475993,nssv14477097,nssv14491263,nssv14483173 M 14 4 0 TTC34 CHM13,HG00514,HG04217,NA19434 nsv3324168 1 2609525 2609805 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479347 M 14 0 1 TTC34 CHM1 esv993173 1 2609759 2610320 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584575 M 3 0 1 TTC34 HuRef nsv3323266 1 2609835 2610037 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476510 M 14 0 1 TTC34 CHM1 nsv3323467 1 2609855 2609936 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473768,nssv14490226 M 14 0 2 TTC34 HG02059,NA19434 nsv3324169 1 2609873 2609873 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489661 M 14 1 0 TTC34 HG04217 nsv3323468 1 2610492 2611013 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483860,nssv14487307 M 14 0 2 TTC34 HG04217,NA19240 nsv159383 1 2610568 2616269 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177961 M 24 TTC34 nsv3323469 1 2610725 2611409 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485618 M 14 0 1 TTC34 CHM1 nsv3323770 1 2611133 2611942 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486153,nssv14474861,nssv14488444 M 14 0 3 TTC34 HG00733,HG04217,NA19240 esv989273 1 2611513 2614402 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575900 M 3 0 1 TTC34 HuRef nsv3323771 1 2611556 2611656 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478111 M 14 0 1 TTC34 CHM1 nsv3323772 1 2611654 2613061 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480532,nssv14484141 M 14 0 2 TTC34 CHM1,HG02059 nsv3324170 1 2611882 2611962 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488705 M 14 0 1 TTC34 CHM1 nsv3324171 1 2612137 2612218 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480722 M 14 0 1 TTC34 CHM1 nsv3323773 1 2612220 2612419 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479072 M 14 0 1 TTC34 CHM1 nsv3323267 1 2612574 2612574 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486726 M 14 1 0 TTC34 NA19240 nsv3323774 1 2612620 2612620 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473360 M 14 1 0 TTC34 CHM1 nsv3323470 1 2612684 2612844 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487576,nssv14481638 M 14 0 2 TTC34 HG04217,NA19434 nsv3323775 1 2612877 2612877 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475915,nssv14473886 M 14 2 0 TTC34 CHM1,NA19240 nsv3323269 1 2613308 2613308 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487467,nssv14482432,nssv14489144,nssv14478249 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv3323776 1 2613418 2613498 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483978 M 14 0 1 TTC34 CHM1 nsv3323270 1 2613452 2613452 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490379,nssv14489833,nssv14473943,nssv14489228,nssv14482192 M 14 5 0 TTC34 HG00268,HG00514,HG02059,HG04217,NA19434 nsv3323777 1 2613486 2613486 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487650,nssv14483133,nssv14486980,nssv14488657 M 14 4 0 TTC34 HG00268,HG00514,HG02059,HG04217 nsv3324173 1 2613546 2613546 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482060 M 14 1 0 TTC34 HG00514 nsv3323271 1 2613548 2613548 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472575 M 14 1 0 TTC34 NA19240 nsv3323471 1 2613582 2613663 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477144,nssv14485396,nssv14473262 M 14 0 3 TTC34 HG00514,HG00733,NA19434 nsv3324174 1 2613724 2614366 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473122 M 14 0 1 TTC34 CHM1 nsv3323472 1 2613732 2613811 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472640,nssv14479569,nssv14474339 M 14 0 3 TTC34 HG00514,HG00733,NA19434 nsv3323473 1 2613871 2614033 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483646 M 14 0 1 TTC34 HG00733 nsv3323272 1 2614089 2614249 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486072,nssv14480909 M 14 0 2 TTC34 HG00733,HG02059 nsv3323273 1 2614148 2614148 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488252 M 14 1 0 TTC34 HG04217 nsv3323274 1 2614379 2614538 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487680,nssv14477901,nssv14490060,nssv14479424 M 14 0 4 TTC34 CHM13,HG00514,HG00733,NA19434 nsv545092 1 2614568 2633298 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708760 M 17421 1 0 TTC34 nsv3323474 1 2614666 2614788 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487170 M 14 0 1 TTC34 NA19434 nsv3323475 1 2614788 2614868 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482846 M 14 0 1 TTC34 HG00733 nsv3323778 1 2614850 2614850 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491056 M 14 1 0 TTC34 HG00514 nsv3324175 1 2614887 2614887 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475431 M 14 1 0 TTC34 HG00514 nsv3323275 1 2614954 2615026 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473994 M 14 0 1 TTC34 HG00733 nsv3323779 1 2615032 2615032 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477624 M 14 1 0 TTC34 HG00514 nsv3324176 1 2615072 2615072 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14481210 M 14 1 0 TTC34 HG00514 nsv3324177 1 2615096 2615096 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479051,nssv14476142,nssv14487944 M 14 3 0 TTC34 HG00268,HG00514,HG02059 nsv3323780 1 2615100 2615180 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476291 M 14 0 1 TTC34 CHM1 nsv3323276 1 2615150 2615150 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489954 M 14 1 0 TTC34 HG00514 nsv3323781 1 2615211 2615211 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478641,nssv14489993,nssv14475124 M 14 3 0 TTC34 CHM1,HG00514,HG02818 nsv3324178 1 2615256 2615256 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475962,nssv14481536,nssv14479150,nssv14475403 M 14 4 0 TTC34 CHM1,HG00268,HG02059,HG02818 esv6961 1 2615507 2629275 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29402 M 1 0 0 TTC34 nsv3323782 1 2615555 2615555 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472080,nssv14491369,nssv14489770 M 14 3 0 TTC34 HG00514,HG02059,NA19434 nsv3323476 1 2615577 2615577 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491476 M 14 1 0 TTC34 HG00514 nsv3323783 1 2615636 2615636 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477055,nssv14479494 M 14 2 0 TTC34 HG00514,NA19434 nsv3323477 1 2615721 2615721 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480577 M 14 1 0 TTC34 HG00514 nsv3323478 1 2615750 2615870 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482334 M 14 0 1 TTC34 CHM1 nsv3323277 1 2615755 2616195 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476055,nssv14474437,nssv14472034,nssv14485780 M 14 0 4 TTC34 HG00268,HG00514,HG02818,HG04217 nsv3323278 1 2615777 2615777 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475924 M 14 1 0 TTC34 HG00514 nsv3323479 1 2615822 2615822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487298 M 14 1 0 TTC34 HG00514 nsv3323279 1 2615825 2615946 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478637 M 14 0 1 TTC34 NA19434 nsv3324179 1 2615912 2616031 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490543,nssv14482590 M 14 0 2 TTC34 CHM1,HG02059 nsv3323480 1 2615988 2616066 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489555,nssv14491515,nssv14486929 M 14 0 3 TTC34 HG00514,HG04217,NA19434 nsv3323784 1 2616057 2616258 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478538 M 14 0 1 TTC34 HG00733 nsv3323531 1 2616106 2616106 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480502 M 14 1 0 TTC34 CHM1 nsv3323785 1 2616182 2616182 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482076,nssv14490842,nssv14488508 M 14 3 0 TTC34 HG00514,HG04217,NA19434 nsv3323532 1 2616184 2616184 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475534 M 14 1 0 TTC34 CHM1 nsv3323481 1 2616269 2616269 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484862 M 14 1 0 TTC34 HG00514 nsv3323786 1 2616315 2616315 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473485,nssv14486552,nssv14480440 M 14 3 0 TTC34 HG00514,HG04217,NA19434 nsv3323826 1 2616323 2616323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477170 M 14 1 0 TTC34 CHM1 nsv3323280 1 2616351 2616431 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488453 M 14 0 1 TTC34 CHM13 nsv159584 1 2616455 2616815 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178162 M 24 TTC34 nsv3323281 1 2616503 2616503 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482945,nssv14486363 M 14 2 0 TTC34 HG00514,NA19434 nsv3323787 1 2616537 2616537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482251,nssv14487580 M 14 2 0 TTC34 HG00514,NA19434 nsv3323482 1 2616603 2616603 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480089,nssv14487432 M 14 2 0 TTC34 HG00514,NA19434 nsv3323282 1 2616657 2616657 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486512 M 14 1 0 TTC34 HG02818 nsv3323483 1 2616658 2616658 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490014,nssv14472129 M 14 2 0 TTC34 HG00514,NA19434 nsv3323484 1 2616660 2616820 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491723 M 14 0 1 TTC34 HG02059 nsv3324180 1 2616709 2617109 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482679 M 14 0 1 TTC34 CHM13 nsv6964 1 2616765 2618184 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6711 M 9 1 0 TTC34 NA12156 nsv3324181 1 2616877 2616877 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483605,nssv14489756 M 14 2 0 TTC34 HG00514,NA19434 nsv3324182 1 2616921 2617080 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490707,nssv14479919,nssv14472409 M 14 0 3 TTC34 HG02818,HG04217,NA19434 nsv3323485 1 2617078 2617078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476747,nssv14475747 M 14 2 0 TTC34 HG00514,HG04217 nsv3324183 1 2617126 2617126 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491948,nssv14480475 M 14 2 0 TTC34 HG00514,HG04217 nsv3323486 1 2617213 2617213 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481228,nssv14473829 M 14 2 0 TTC34 HG00514,HG04217 nsv3324184 1 2617335 2617413 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477056 M 14 0 1 TTC34 NA19434 nsv3323487 1 2617392 2617392 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474722,nssv14479732,nssv14491664 M 14 3 0 TTC34 HG00514,HG02818,NA19434 nsv3323488 1 2617452 2617452 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490367,nssv14482883,nssv14472596,nssv14477706 M 14 4 0 TTC34 CHM13,HG02059,HG02818,NA19434 nsv3323283 1 2617505 2617623 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477326 M 14 0 1 TTC34 NA19434 nsv3323284 1 2617515 2617565 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476762 M 14 0 1 TTC34 HG02818 nsv3323489 1 2617639 2617639 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491238,nssv14482468,nssv14486182 M 14 3 0 TTC34 HG00514,HG02059,HG04217 nsv3323285 1 2617677 2617836 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478278 M 14 0 1 TTC34 NA19434 nsv3323788 1 2617708 2617708 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481610 M 14 1 0 TTC34 HG02059 nsv3323789 1 2617822 2617822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481611,nssv14486770,nssv14482947,nssv14491447 M 14 4 0 TTC34 HG00514,HG02059,HG02818,HG04217 nsv3324185 1 2617897 2617897 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473200 M 14 1 0 TTC34 HG02818 nsv160877 1 2617977 2623639 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179455 M 24 TTC34 nsv3323490 1 2617980 2617980 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488607 M 14 1 0 TTC34 HG02818 nsv3323491 1 2618005 2618005 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472307 M 14 1 0 TTC34 HG00514 nsv3323492 1 2618078 2618078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485601 M 14 1 0 TTC34 HG00514 nsv3323790 1 2618122 2618122 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478896 M 14 1 0 TTC34 HG02059 nsv3324186 1 2618192 2618192 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481592 M 14 1 0 TTC34 HG02818 nsv3324187 1 2618220 2618220 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472510 M 14 1 0 TTC34 HG00514 nsv3323493 1 2618420 2618660 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476240 M 14 0 1 TTC34 HG00733 nsv3323791 1 2618443 2618443 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476215 M 14 1 0 TTC34 HG00514 nsv7534 1 2618520 2621299 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4235 M 9 1 0 TTC34 NA12878 nsv3324188 1 2618742 2618742 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485193 M 14 1 0 TTC34 HG00514 esv2663943 1 2618820 2626257 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6025078 M 1151 0 1 TTC34 NA18486 nsv3323494 1 2618925 2618925 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480218 M 14 1 0 TTC34 HG00514 nsv3323286 1 2618984 2618984 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480877,nssv14472698 M 14 2 0 TTC34 HG00514,HG02818 nsv3323495 1 2619053 2619133 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477487,nssv14489969 M 14 0 2 TTC34 HG04217,NA19434 nsv3323287 1 2619110 2619110 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479280 M 14 1 0 TTC34 HG00514 nsv3324189 1 2619177 2619496 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481669 M 14 0 1 TTC34 HG02818 nsv3324190 1 2619264 2619264 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476757 M 14 1 0 TTC34 HG02059 nsv3324191 1 2619271 2619271 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482791,nssv14474850 M 14 2 0 TTC34 HG00514,HG02059 nsv3323792 1 2619335 2619335 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488171 M 14 1 0 TTC34 HG00514 nsv3323793 1 2619374 2619454 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472251,nssv14486282 M 14 0 2 TTC34 HG00514,HG02818 nsv3323288 1 2619461 2619541 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491850 M 14 0 1 TTC34 HG00733 nsv3324192 1 2619527 2619527 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481625 M 14 1 0 TTC34 HG00514 nsv3323496 1 2619541 2619622 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481652 M 14 0 1 TTC34 HG02059 nsv3323289 1 2619554 2619554 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14477019 M 14 1 0 TTC34 NA19434 nsv3323794 1 2619622 2619622 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483164 M 14 1 0 TTC34 HG02818 nsv3323497 1 2619759 2619759 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479440 M 14 1 0 TTC34 HG00514 nsv3323498 1 2619809 2619809 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483607,nssv14478235,nssv14477993,nssv14491054 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv3323290 1 2619873 2619993 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481020 M 14 0 1 TTC34 HG02818 nsv3323795 1 2619892 2620214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481035 M 14 0 1 TTC34 HG00733 nsv3323499 1 2619972 2620093 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14810091 M 14 0 1 TTC34 HG04217 nsv3323291 1 2620067 2620067 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486377 M 14 1 0 TTC34 HG02059 nsv3324193 1 2620078 2620078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474270,nssv14475987,nssv14477857,nssv14472859 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv3323796 1 2620109 2620109 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480103 M 14 1 0 TTC34 HG00514 nsv3323797 1 2620120 2620482 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485739 M 14 0 1 TTC34 HG02818 nsv3324194 1 2620192 2620192 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484323,nssv14480561,nssv14483946,nssv14477198 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv3323798 1 2620229 2620229 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475998,nssv14472203 M 14 2 0 TTC34 HG00514,HG04217 nsv3323292 1 2620274 2620274 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474327,nssv14487674,nssv14478059,nssv14477447 M 14 4 0 TTC34 HG00268,HG00514,HG02059,NA19434 nsv160247 1 2620307 2622675 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178825 M 24 TTC34 nsv3323500 1 2620416 2620416 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478547 M 14 1 0 TTC34 HG00514 nsv3324195 1 2620473 2620473 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483967 M 14 1 0 TTC34 HG00514 nsv3323799 1 2620530 2620731 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482657 M 14 0 1 TTC34 NA19434 nsv3323501 1 2620629 2620629 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475199 M 14 1 0 TTC34 HG00514 nsv3323502 1 2620635 2620798 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14792968,nssv14808723,nssv14795353,nssv14809331,nssv14798372,nssv14798336 M 14 0 6 TTC34 HG00268,HG00514,HG02059,HG02818,HG04217,NA19434 nsv3323293 1 2620796 2620916 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487152,nssv14490749 M 14 0 2 TTC34 CHM13,NA19434 nsv1116583 1 2620916 2622963 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978765 M 2 1 0 TTC34 KWS2 nsv3323294 1 2620921 2620921 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483432 M 14 1 0 TTC34 HG00514 nsv3324219 1 2620972 2620972 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476611 M 14 1 0 TTC34 CHM1 nsv3324196 1 2621013 2621172 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14797678,nssv14800941 M 14 0 2 TTC34 HG02818,NA19434 nsv3323503 1 2621073 2621073 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476647 M 14 1 0 TTC34 HG02818 nsv3324197 1 2621075 2621075 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476662 M 14 1 0 TTC34 HG00514 nsv3323821 1 2621103 2621103 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490916 M 14 1 0 TTC34 CHM1 nsv3324220 1 2621137 2621137 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477994 M 14 1 0 TTC34 CHM1 nsv3324198 1 2621158 2621158 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479596,nssv14491963 M 14 2 0 TTC34 HG00514,HG02818 nsv3323295 1 2621207 2621408 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476895 M 14 0 1 TTC34 HG02818 nsv3323329 1 2621372 2621372 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472730 M 14 1 0 TTC34 CHM1 nsv3323296 1 2621374 2621374 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483086,nssv14478986 M 14 2 0 TTC34 HG00514,NA19434 nsv3323800 1 2621395 2621395 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489561,nssv14479159,nssv14486294 M 14 3 0 TTC34 HG00268,HG00514,HG02059 nsv3324199 1 2621528 2621528 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480669 M 14 1 0 TTC34 NA19434 nsv3324200 1 2621673 2621753 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477850 M 14 0 1 TTC34 HG04217 nsv3323801 1 2621694 2621694 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476939,nssv14475689,nssv14489365,nssv14475038,nssv14491830 M 14 5 0 TTC34 HG00268,HG00514,HG02059,HG02818,NA19434 nsv3323504 1 2621731 2621731 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488114,nssv14484900,nssv14473956,nssv14487373,nssv14484055 M 14 5 0 TTC34 HG00268,HG00514,HG02059,HG02818,NA19434 nsv3323505 1 2621797 2621797 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478007 M 14 1 0 TTC34 HG00514 nsv3323802 1 2621867 2621867 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477464 M 14 1 0 TTC34 HG00514 nsv3324201 1 2621997 2621997 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479580 M 14 1 0 TTC34 HG00514 nsv3323298 1 2622037 2622157 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14795473 M 14 0 1 TTC34 NA19434 nsv3324202 1 2622177 2622177 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489466,nssv14487468 M 14 2 0 TTC34 HG00514,NA19434 nsv3323299 1 2622177 2622257 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473100,nssv14477111,nssv14491887 M 14 0 3 TTC34 HG00514,HG02818,HG04217 nsv3323803 1 2622226 2622226 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475197 M 14 1 0 TTC34 HG00514 esv3684128 1 2622227 2622308 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468792 M 20 0 1 TTC34 nsv3323331 1 2622367 2622367 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484621 M 14 1 0 TTC34 CHM1 nsv3323300 1 2622371 2622371 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490134 M 14 1 0 TTC34 HG00514 nsv3323301 1 2622423 2622423 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491521,nssv14485657 M 14 2 0 TTC34 HG00514,HG02818 nsv3323804 1 2622437 2622437 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483722 M 14 1 0 TTC34 NA19434 nsv3323302 1 2622437 2622680 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479054,nssv14475269,nssv14480227 M 14 0 3 TTC34 HG00514,HG00733,HG04217 esv3671754 1 2622457 2622546 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16493782 M 20 0 0 TTC34 nsv3323506 1 2622483 2622483 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486458 M 14 1 0 TTC34 NA19434 nsv3323507 1 2622498 2622618 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486343,nssv14491541 M 14 0 2 TTC34 HG02818,HG04217 nsv3323805 1 2622539 2622539 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482724 M 14 1 0 TTC34 HG00514 nsv3323806 1 2622691 2622691 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480286 M 14 1 0 TTC34 HG00514 nsv3323822 1 2622755 2622755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487096 M 14 1 0 TTC34 CHM1 nsv160029 1 2622815 2628837 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178607 M 24 TTC34 nsv3324203 1 2622840 2622919 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472260 M 14 0 1 TTC34 HG00514 nsv3323303 1 2622854 2622854 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14487752,nssv14476338,nssv14485542,nssv14482061 M 14 4 0 TTC34 HG00514,HG02059,HG02818,NA19434 nsv3323527 1 2622973 2622973 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481548 M 14 1 0 TTC34 HG02818 nsv3323332 1 2623056 2623056 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488418 M 14 1 0 TTC34 CHM1 nsv3324204 1 2623098 2623098 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489643 M 14 1 0 TTC34 HG00514 nsv160879 1 2623117 2625882 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179457 M 24 TTC34 nsv3323304 1 2623144 2623344 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482888 M 14 0 1 TTC34 HG02818 nsv3323305 1 2623202 2623202 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482640,nssv14476886 M 14 2 0 TTC34 HG00268,HG00514 nsv159137 1 2623263 2623383 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177715 M 24 TTC34 nsv3324205 1 2623276 2624117 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490958 M 14 0 1 TTC34 CHM13 nsv3323807 1 2623277 2623277 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481981,nssv14474457 M 14 2 0 TTC34 HG00514,HG02818 nsv3324206 1 2623393 2623393 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483450,nssv14477229 M 14 2 0 TTC34 HG00514,HG02818 nsv3323823 1 2623406 2623406 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473372 M 14 1 0 TTC34 CHM1 nsv3324207 1 2623487 2623487 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479425 M 14 1 0 TTC34 HG02059 nsv3323306 1 2623500 2623500 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474098,nssv14481616 M 14 2 0 TTC34 HG02059,HG02818 nsv3323307 1 2623576 2623576 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483396 M 14 1 0 TTC34 HG02818 nsv3323808 1 2623587 2623587 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487661 M 14 1 0 TTC34 HG00514 nsv3323308 1 2623749 2623749 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484470,nssv14489570 M 14 2 0 TTC34 HG00514,HG02818 nsv3323508 1 2623775 2623775 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490168,nssv14481676 M 14 2 0 TTC34 HG00514,HG02818 nsv3324208 1 2623911 2623911 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489514 M 14 1 0 TTC34 HG02818 nsv160272 1 2623929 2633004 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178850 M 24 TTC34 nsv3323509 1 2623935 2623935 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484390 M 14 1 0 TTC34 HG02818 nsv3323510 1 2624044 2624044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472484 M 14 1 0 TTC34 HG02818 nsv3324209 1 2624147 2624147 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480929,nssv14476748 M 14 2 0 TTC34 HG00514,NA19434 nsv3324223 1 2624217 2624217 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476612 M 14 1 0 TTC34 HG02818 nsv3324210 1 2624234 2624234 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472880 M 14 1 0 TTC34 HG00514 nsv3323309 1 2624246 2624246 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491284 M 14 1 0 TTC34 HG02059 nsv3323511 1 2624253 2624973 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491159 M 14 0 1 TTC34 HG00733 nsv3323310 1 2624344 2624344 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488433,nssv14486003 M 14 2 0 TTC34 HG02818,NA19434 nsv3323809 1 2624464 2624464 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487365 M 14 1 0 TTC34 HG02818 nsv3324211 1 2624465 2624465 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476012 M 14 1 0 TTC34 HG00514 nsv3324224 1 2624482 2624482 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480786 M 14 1 0 TTC34 CHM1 nsv3323311 1 2624545 2624545 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490924,nssv14491867,nssv14477030,nssv14475546 M 14 4 0 TTC34 HG00514,HG02059,HG02818,NA19434 nsv3323312 1 2624568 2624568 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485949,nssv14475181,nssv14477887,nssv14485740 M 14 4 0 TTC34 HG00514,HG02059,HG02818,NA19434 nsv3323827 1 2624584 2624663 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474293 M 14 0 1 TTC34 HG02818 nsv3323512 1 2624593 2624593 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478487,nssv14488783,nssv14488993 M 14 3 0 TTC34 HG00514,HG02059,HG02818 nsv3324225 1 2624694 2624853 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489414 M 14 0 1 TTC34 HG02818 nsv3324212 1 2624771 2624850 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475989,nssv14480396,nssv14478801 M 14 0 3 TTC34 HG00514,HG04217,NA19434 nsv3323810 1 2624865 2624865 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482915 M 14 1 0 TTC34 HG02818 nsv3323313 1 2624878 2624878 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479471,nssv14485019 M 14 2 0 TTC34 HG00514,HG02059 nsv3323314 1 2624933 2624933 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475632,nssv14485529 M 14 2 0 TTC34 HG00514,HG02059 nsv3323513 1 2625065 2625065 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475296 M 14 1 0 TTC34 HG00514 nsv3323514 1 2625105 2625225 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479403 M 14 0 1 TTC34 NA19434 nsv3323533 1 2625133 2625133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487403 M 14 1 0 TTC34 CHM1 nsv3323315 1 2625152 2625152 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479144 M 14 1 0 TTC34 HG02818 nsv3323316 1 2625248 2625248 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482382,nssv14473831 M 14 2 0 TTC34 HG00514,HG02818 nsv3323811 1 2625454 2625454 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487395 M 14 1 0 TTC34 HG02059 nsv3323515 1 2625466 2625627 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475612 M 14 0 1 TTC34 HG00514 nsv3323317 1 2625469 2625469 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489885,nssv14477632 M 14 2 0 TTC34 HG00514,HG02818 nsv3323337 1 2625483 2625764 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484054 M 14 0 1 TTC34 CHM1 nsv3323534 1 2625484 2625484 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480209 M 14 1 0 TTC34 CHM1 nsv3324213 1 2625526 2625526 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485804,nssv14482575 M 14 2 0 TTC34 HG00514,HG02818 nsv3323318 1 2625556 2625556 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482025 M 14 1 0 TTC34 HG00514 nsv3324226 1 2625639 2625639 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478703 M 14 1 0 TTC34 CHM1 nsv3323319 1 2625669 2625669 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477532 M 14 1 0 TTC34 NA19434 nsv3324227 1 2625748 2625748 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474801 M 14 1 0 TTC34 CHM1 nsv3323812 1 2625876 2626197 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482658 M 14 0 1 TTC34 CHM13 nsv3323828 1 2626004 2626004 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487642 M 14 1 0 TTC34 CHM1 nsv3323516 1 2626181 2626261 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488561 M 14 0 1 TTC34 HG02818 nsv3323320 1 2626260 2626260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490000 M 14 1 0 TTC34 HG00514 nsv160341 1 2626290 2627173 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178919 M 24 TTC34 nsv3323813 1 2626350 2626350 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484625,nssv14478284,nssv14472900 M 14 3 0 TTC34 HG00514,HG02059,HG02818 nsv3323535 1 2626495 2626747 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477551 M 14 0 1 TTC34 CHM1 nsv3324228 1 2626572 2626572 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484844 M 14 1 0 TTC34 CHM1 nsv3323814 1 2626601 2626761 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472360,nssv14480298 M 14 0 2 TTC34 CHM13,HG00514 nsv3324214 1 2626777 2626896 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477897 M 14 0 1 TTC34 HG04217 nsv3323338 1 2626855 2626855 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472992 M 14 1 0 TTC34 CHM1 nsv3323517 1 2626915 2626915 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485878 M 14 1 0 TTC34 HG00514 nsv3324215 1 2627008 2627095 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476955 M 14 0 1 TTC34 HG00514 nsv545093 1 2627023 2631653 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708761 M 17421 1 0 TTC34 nsv3323829 1 2627038 2627038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482706 M 14 1 0 TTC34 CHM1 nsv3323815 1 2627079 2627434 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483004 M 14 0 1 TTC34 HG02059 nsv3323518 1 2627146 2627146 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489217 M 14 1 0 TTC34 HG00268 nsv3323321 1 2627233 2627233 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475827,nssv14485744 M 14 2 0 TTC34 HG00514,HG02818 nsv3323831 1 2627303 2627422 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482998 M 14 0 1 TTC34 HG02818 nsv3323519 1 2627306 2627306 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489093 M 14 1 0 TTC34 HG04217 nsv3323520 1 2627422 2627422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481094 M 14 1 0 TTC34 HG00268 nsv3323536 1 2627509 2627509 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472473 M 14 1 0 TTC34 CHM1 nsv3323322 1 2627615 2627695 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480226 M 14 0 1 TTC34 HG00514 nsv3324216 1 2627714 2627714 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487623 M 14 1 0 TTC34 HG02818 nsv3323521 1 2627879 2627879 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486239 M 14 1 0 TTC34 CHM13 nsv3323323 1 2627982 2627982 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474651 M 14 1 0 TTC34 CHM13 nsv3323339 1 2628076 2628076 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472584 M 14 1 0 TTC34 CHM1 nsv3323522 1 2628479 2628479 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472951 M 14 1 0 TTC34 HG00514 nsv3323324 1 2628511 2628511 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485872 M 14 1 0 TTC34 HG00514 nsv3324229 1 2628602 2628602 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482662 M 14 1 0 TTC34 CHM1 nsv3324217 1 2628699 2628699 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479291 M 14 1 0 TTC34 HG00514 nsv3323523 1 2628868 2629069 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490222,nssv14485035 M 14 0 2 TTC34 HG00514,HG02818 nsv3323816 1 2629275 2629275 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477209,nssv14477919 M 14 2 0 TTC34 HG00514,HG02818 nsv3323817 1 2629340 2629739 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474490 M 14 0 1 TTC34 HG02059 nsv3323524 1 2629467 2629467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481136 M 14 1 0 TTC34 HG00514 nsv3323325 1 2629632 2629632 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477821 M 14 1 0 TTC34 HG02818 nsv3323818 1 2629785 2629866 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473024 M 14 0 1 TTC34 HG02818 esv6481 1 2629935 2630539 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28922 M 1 0 0 TTC34 nsv3323819 1 2630287 2630408 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474740 M 14 0 1 TTC34 HG02059 nsv4037910 1 2631034 2631454 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851051 M 10847 0 1 TTC34 nsv3323525 1 2631149 2631149 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473603 M 14 1 0 TTC34 HG00514 nsv3323820 1 2631715 2631715 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479488 M 14 1 0 TTC34 HG00514 nsv4033360 1 2631798 2631849 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851059 M 10847 0 1 TTC34 esv1095177 1 2632561 2632561 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3698632 M 2 1 0 TTC34 HuRef nsv3323341 1 2632759 2632759 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487313 M 14 1 0 TTC34 CHM1 nsv160000 1 2632791 2632990 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178578 M 24 TTC34 nsv159461 1 2633264 2634106 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178039 M 24 TTC34 nsv3324222 1 2634142 2634142 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485947 M 14 1 0 TTC34 CHM1 nsv4039083 1 2684220 2736100 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963303 M 10847 1 0 TTC34 esv23086 1 2684255 2694960 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 2684255 2695040 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420624 M 1 1 0 TTC34 NA10851 nsv1151057 1 2684299 2693800 CNV duplication John_et_al_2014 26484159 Sequencing nssv4001989 M 1 1 0 TTC34 KWB1 esv3585031 1 2684305 2719507 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841897,essv9841893,essv9841892,essv9841891,essv9841890,essv9841894,essv9841895,essv9841896,essv9841899,essv9841898 M 2504 10 0 TTC34 HG01063,HG02256,HG02308,HG02315,HG03224,HG03303,HG03363,NA19042,NA19834,NA20348 nsv545094 1 2684502 2691265 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708762 M 17421 1 0 TTC34 nsv3323835 1 2684746 2685158 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476409 M 14 0 1 TTC34 CHM1 dgv21e59 1 2685192 2692090 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 nsv1128583 1 2685700 2689900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960494 M 2 1 0 TTC34 KWS1 nsv1115330 1 2685700 2693800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976382 M 2 1 0 TTC34 KWS2 nsv3323541 1 2685961 2685961 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477665 M 14 1 0 TTC34 HG02818 nsv3324236 1 2686146 2693481 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490144,nssv14490384 M 14 0 2 TTC34 HG04217,NA19240 nsv3323830 1 2686186 2686186 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478951 M 14 1 0 TTC34 CHM1 nsv3324237 1 2686252 2686252 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490567,nssv14474703 M 14 2 0 TTC34 HG02818,NA19240 nsv3324230 1 2686775 2687217 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491067 M 14 0 1 TTC34 CHM1 nsv1077280 1 2687399 2693800 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770110 M 1 1 0 TTC34 KWP1 nsv3323342 1 2687545 2687545 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484091,nssv14489638 M 14 2 0 TTC34 CHM1,HG02818 nsv3323833 1 2687643 2687844 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474239,nssv14487330,nssv14482859 M 14 0 3 TTC34 HG00268,HG02106,HG02818 nsv3324231 1 2687793 2687793 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484866 M 14 1 0 TTC34 HG02818 nsv3323344 1 2687822 2687822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484449,nssv14475291 M 14 2 0 TTC34 CHM13,HG00514 nsv3323343 1 2687822 2691363 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481853,nssv14490780 M 14 0 2 TTC34 HG00514,NA19240 nsv3323538 1 2687830 2687951 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474301 M 14 0 1 TTC34 CHM1 nsv3323836 1 2688038 2688038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490568 M 14 1 0 TTC34 HG02818 nsv3324238 1 2688142 2688142 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478686 M 14 1 0 TTC34 HG02818 nsv3323347 1 2688389 2688389 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485258 M 14 1 0 TTC34 HG02818 nsv3324232 1 2688899 2689180 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485603 M 14 0 1 TTC34 CHM1 nsv3323540 1 2689221 2689384 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487941,nssv14482943 M 14 0 2 TTC34 HG00268,HG02818 nsv1151032 1 2689234 2689372 CNV deletion John_et_al_2014 26484159 Sequencing nssv4001965 M 1 0 1 TTC34 KWB1 esv1006680 1 2689524 2689683 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3585900 M 3 0 1 TTC34 HuRef nsv3323345 1 2689684 2689684 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478605,nssv14484362,nssv14474587,nssv14481461,nssv14475831,nssv14483791,nssv14479395,nssv14484978 M 14 8 0 TTC34 HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240 nsv4033928 1 2689942 2690176 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851085 M 10847 0 1 TTC34 nsv3323346 1 2689957 2689957 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476620 M 14 1 0 TTC34 HG02106 esv1125194 1 2690111 2691077 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4352306 M 2 0 1 TTC34 HuRef nsv3324233 1 2691170 2691170 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480526 M 14 1 0 TTC34 CHM1 nsv3324234 1 2691364 2691364 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485023,nssv14472548,nssv14479167,nssv14478101,nssv14488388,nssv14472337,nssv14476230 M 14 7 0 TTC34 HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,NA19240 nsv3324235 1 2691794 2691794 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490816 M 14 1 0 TTC34 HG02818 nsv3324239 1 2692794 2692912 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483490 M 14 0 1 TTC34 NA19240 esv3585032 1 2693016 2697186 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841900 M 2504 0 1 TTC34 HG00404 esv2661153 1 2693029 2697101 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6292297 M 1151 0 1 TTC34 HG00404 nsv4046264 1 2693029 2697101 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851093 M 10847 0 1 TTC34 nsv3323542 1 2693482 2693482 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474282 M 14 1 0 TTC34 CHM13 nsv3323837 1 2693896 2693896 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491932 M 14 1 0 TTC34 NA12878 dgv11n100 1 2694433 3267337 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010228,nsv1010950 M 29084 2 0 ACTRT2,LINC00982,MIR4251,PRDM16,TTC34 esv3583359 1 2694517 3202884 CNV gain Uddin_et_al_2014 25503493 SNP array essv9783644 M 873 1 0 ACTRT2,LINC00982,MIR4251,PRDM16,TTC34 401842BJ esv3892858 1 2700372 2878366 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25788249,essv25788252 M 3017 2 0 TTC34 nsv4533784 1 2708070 2708071 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029383 M 10847 1 0 "" nsv474526 1 2711565 2711565 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019475 M 9 1 0 "" NA18956 nsv951075 1 2713001 2752400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997353 M 1 0 1 "" BILGI_BIOE dgv12n100 1 2713327 2868072 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998848,nsv1009684,nsv997701,nsv1004395,nsv1009581 M 29084 9 0 "" nsv1075948 1 2714499 2715700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765668 M 1 0 1 "" KWP1 esv3684185 1 2715416 2715609 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468843 M 20 0 1 "" nsv4046683 1 2721500 2721631 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851232 M 10847 0 1 "" nsv4044706 1 2735348 2735399 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851249 M 10847 0 1 "" esv3363378 1 2736692 2736990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692269 M 185 1 0 "" NA19239 nsv3323546 1 2736875 2736875 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487237 M 14 1 0 "" NA19434 nsv469835 1 2740701 2922551 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1675009 M 265 0 1 "" nsv4052324 1 2742733 2742787 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851259 M 10847 0 1 "" nsv1144339 1 2757426 2757479 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995084 M 2 0 1 "" KWS1 esv3684223 1 2765585 2765872 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468878 M 20 0 1 "" nsv3324247 1 2765840 2765840 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489926,nssv14478091 M 14 2 0 "" HG02818,HG04217 nsv3324248 1 2765872 2765872 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491857,nssv14480552,nssv14475393,nssv14479517,nssv14485338,nssv14476033,nssv14481434,nssv14484009,nssv14480197,nssv14490599,nssv14490054 M 14 11 0 "" CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3323549 1 2765872 2765934 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480737 M 14 0 1 "" HG02818 nsv1150123 1 2765887 2765967 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998914 M 1 1 0 "" KWB1 nsv3323352 1 2765904 2765904 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475048,nssv14472755,nssv14490957,nssv14480249,nssv14484263 M 14 5 0 "" CHM13,HG01352,HG02059,HG02106,NA19240 esv2455629 1 2765957 2766825 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5201421 M 1 1 0 "" NA18507 esv1778376 1 2766029 2766029 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3921204 M 2 1 0 "" HuRef nsv3323842 1 2766030 2766030 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482835,nssv14485628,nssv14480793,nssv14481120,nssv14489405,nssv14473826,nssv14477781,nssv14491544,nssv14475276,nssv14474361,nssv14479714,nssv14485191,nssv14482944 M 14 13 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3324251 1 2766038 2766038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473421,nssv14472412 M 14 2 0 "" HG02059,HG04217 nsv3323550 1 2766063 2766063 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486463,nssv14480088 M 14 2 0 "" HG02059,HG04217 nsv3323843 1 2766133 2766133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472503,nssv14484719 M 14 2 0 "" HG02059,HG04217 nsv951916 1 2767401 2908200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2998256 M 1 0 1 "" BILGI_BIOE esv2606115 1 2768287 2769751 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5324371 M 1 0 1 "" NA18507 nsv3323353 1 2768520 2768520 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485928 M 14 1 0 "" HG02818 esv1145877 1 2768645 2768645 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4076825 M 2 1 0 "" HuRef nsv3323844 1 2768658 2768658 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474607,nssv14478994,nssv14480759,nssv14476769,nssv14472219,nssv14484990,nssv14476629 M 14 7 0 "" CHM13,HG00268,HG02059,HG02106,HG02818,NA12878,NA19434 nsv3323551 1 2768711 2768970 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484578,nssv14482826 M 14 0 2 "" HG01352,NA19240 nsv3323845 1 2769014 2769325 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484416,nssv14491237,nssv14474362,nssv14491081,nssv14480600,nssv14486833,nssv14490029 M 14 0 7 "" CHM13,HG00268,HG02059,HG02106,HG02818,NA12878,NA19434 nsv3323354 1 2769022 2769073 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472615,nssv14490944 M 14 0 2 "" HG01352,NA19240 nsv3323846 1 2769226 2769277 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473398,nssv14491463 M 14 0 2 "" HG01352,NA19240 nsv3323847 1 2769274 2769325 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475682 M 14 0 1 "" HG00733 nsv3324252 1 2769333 2769436 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479431,nssv14482041 M 14 0 2 "" HG01352,NA19240 nsv455662 1 2769542 2829551 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv533180 M 1557 0 1 "" HGDP00515 nsv545095 1 2769542 2829551 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172586 M 17421 0 1 "" HGDP00515 esv1008548 1 2772784 2776125 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564145 M 3 1 0 "" HuRef nsv4461105 1 2775120 2775121 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029552 M 10847 1 0 "" nsv1010795 1 2775170 2851238 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472022 M 29084 1 0 "" nsv4050534 1 2775213 2910548 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851268 M 10847 0 1 "" nsv3323552 1 2775785 2775862 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479230,nssv14475414,nssv14482412,nssv14481626,nssv14485259,nssv14479413 M 14 0 6 "" CHM1,HG00514,HG00733,HG02059,HX1,NA12878 dgv19n106 1 2775798 2775886 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121064,nsv1134960 M 2 0 2 "" KWS1,KWS2 nsv1075951 1 2775801 2775880 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769967 M 1 0 1 "" KWP1 esv3561426 1 2775802 2775880 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760173 M 767 0 1 "" nsv4043659 1 2775851 2775999 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963321 M 10847 1 0 "" nsv4043950 1 2776012 2776129 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963328 M 10847 1 0 "" nsv4052332 1 2776032 2776174 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963336 M 10847 1 0 "" nsv3323553 1 2776051 2776051 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490008,nssv14490322,nssv14473581 M 14 3 0 "" CHM1,HX1,NA12878 nsv3323356 1 2776081 2776081 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487229,nssv14472993,nssv14485231,nssv14477486,nssv14488867,nssv14479865,nssv14491306,nssv14487296,nssv14477749 M 14 9 0 "" CHM13,HG00268,HG00733,HG02059,HG02106,HG02818,HX1,NA12878,NA19240 nsv3324254 1 2776130 2776130 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488184,nssv14483767,nssv14474328,nssv14484941,nssv14484324,nssv14473434 M 14 6 0 "" CHM1,HG00268,HG02059,HG02106,HX1,NA12878 esv3666573 1 2779814 2779814 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489120 M 20 1 0 "" nsv4041098 1 2780469 2780541 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851278 M 10847 0 1 "" nsv4036871 1 2786431 2790440 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851286 M 10847 0 1 "" nsv521946 1 2787093 2789108 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694715 M 2026 0 1 "" nsv1133793 1 2789580 2789632 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969363 M 2 0 1 "" KWS2 nsv4046415 1 2794676 2794805 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963354 M 10847 1 0 "" nsv4048622 1 2806489 2806561 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851293 M 10847 0 1 "" nsv4518195 1 2809723 2810139 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851303 M 10847 0 1 "" nsv4557846 1 2811131 2812147 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789155 M 10847 0 0 "" nsv4516839 1 2812235 2813232 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851310 M 10847 0 1 "" esv2676249 1 2812693 2813200 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6584383 M 1151 0 1 "" NA18522 dgv16n166 1 2812751 2813378 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4048564,nsv4047773 M 10847 0 2 "" nsv4046568 1 2812751 2813742 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851102 M 10847 0 1 "" dgv22e59 1 2812792 2814090 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3335313,esv3450928,esv3390986 M 185 3 0 "" NA19238,NA19239,NA19240 esv3561537 1 2813548 2813618 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760284 M 767 0 1 "" nsv3323558 1 2813550 2813619 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484754 M 14 0 1 "" HG02059 esv3684292 1 2819027 2819250 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468940 M 20 0 1 "" esv3684317 1 2819299 2819412 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468962 M 20 0 1 "" nsv3323357 1 2819300 2819355 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485668 M 14 0 1 "" HG00268 nsv4461106 1 2822687 2822688 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029849 M 10847 1 0 "" nsv1137718 1 2826511 2826596 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990219 M 2 0 1 "" KWS2 dgv23e59 1 2831992 2833190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3336132,esv3350598 M 185 2 0 "" NA19239,NA19240 nsv3324257 1 2837835 2837902 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489595 M 14 0 1 "" HX1 nsv4038599 1 2837835 2837990 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851338 M 10847 0 1 "" nsv159525 1 2837836 2837903 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178103 M 24 "" nsv3323561 1 2838176 2838176 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473259 M 14 1 0 "" NA19434 nsv3324258 1 2838430 2838513 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479606 M 14 0 1 "" HG02818 nsv4051837 1 2841641 2841948 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851348 M 10847 0 1 "" nsv4036732 1 2843349 2843455 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963374 M 10847 1 0 "" nsv4041054 1 2847180 2848110 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851358 M 10847 0 1 "" esv3585033 1 2847963 2898365 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841901 M 2504 1 0 "" HG01063 esv3585034 1 2848661 2850131 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841902 M 2504 0 1 "" HG03803 dgv24e59 1 2860792 2862190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3337021,esv3422535 M 185 2 0 "" NA19239,NA19240 nsv4052289 1 2861281 2861340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851366 M 10847 0 1 "" nsv4562557 1 2864653 2864654 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030797 M 10847 1 0 "" nsv3323562 1 2866090 2866187 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482391,nssv14477650,nssv14488918,nssv14482806,nssv14478678,nssv14486566,nssv14483523 M 14 0 7 "" HG00514,HG00733,HG02059,HG02818,NA12878,NA19240,NA19434 esv3684342 1 2866128 2866570 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468985 M 20 0 1 "" esv1009726 1 2866138 2866284 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577776 M 3 0 1 "" HuRef esv1533261 1 2866372 2866519 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4287368 M 2 0 1 "" HuRef nsv4461865 1 2873645 2873646 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030203 M 10847 1 0 "" esv2132425 1 2876448 2876895 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4889243 M 1 0 1 "" NA18507 nsv1121438 1 2876495 2876558 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965438 M 2 0 1 "" KWS2 esv3109 1 2876559 2876831 CNV loss Wang_et_al_2008 18987735 Sequencing essv25550 M 1 0 1 "" YH nsv3324261 1 2876564 2876683 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472252,nssv14478300,nssv14485973,nssv14487826 M 14 0 4 "" HG00733,HG02059,HG04217,NA12878 esv3684378 1 2876572 2876723 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16469017 M 20 0 1 "" nsv1074094 1 2876574 2876782 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771875 M 1 0 1 "" KWP1 esv993932 1 2876594 2876713 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566726 M 3 0 1 "" HuRef esv1703346 1 2876601 2876721 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3656039 M 2 0 1 "" HuRef nsv3323565 1 2876621 2876621 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478889,nssv14482670 M 14 2 0 "" HG02059,HG02818 nsv954197 1 2876640 2876738 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000491 M 1 0 1 "" BILGI_BIOE nsv1140732 1 2876652 2876834 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992239 M 2 0 1 "" KWS1 nsv3324514 1 2878096 2878096 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485478 M 14 1 0 "" NA19434 nsv1145308 1 2881743 2881813 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982399 M 2 0 1 "" KWS1 esv3672791 1 2881760 2881814 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16494715 M 20 0 1 "" nsv470686 1 2889577 2984087 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547673 M 443 0 1 ACTRT2,LINC00982 HGDP00978 nsv4037243 1 2891172 2891296 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851938 M 10847 0 1 "" esv3673172 1 2891173 2891284 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16495059 M 20 0 1 "" esv2671460 1 2891195 2891328 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5487623,essv6329559,essv5476303,essv5724554,essv5920819,essv5773475 M 1151 0 6 "" HG00344,HG01497,NA18519,NA19138,NA19371,NA19428 nsv3324517 1 2891213 2891213 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479529 M 14 1 0 "" NA19434 nsv3323570 1 2891259 2891259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491121 M 14 1 0 "" NA19434 esv25503 1 2892794 2894919 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv21208 M 40 0 2 "" NA12006,NA18907 nsv545096 1 2892959 2894506 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708763,nssv708764 M 17421 2 0 "" nsv4517940 1 2893115 2893848 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963382 M 10847 1 0 "" esv3673494 1 2893116 2893788 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16495348 M 20 0 1 "" nsv3324518 1 2893406 2893669 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484353,nssv14491720,nssv14478996,nssv14491769,nssv14489738,nssv14479317,nssv14475014 M 14 0 7 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02818,NA12878 nsv3323571 1 2893414 2893414 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486474 M 14 1 0 "" HG02106 nsv3323367 1 2893414 2893532 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474530 M 14 0 1 "" HG02059 nsv3324263 1 2893555 2893900 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486910,nssv14475781 M 14 0 2 "" HG00733,NA19434 nsv3324519 1 2893609 2893701 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481901,nssv14490264 M 14 0 2 "" HG02059,NA19240 nsv3324520 1 2893667 2893667 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472237 M 14 1 0 "" HG02106 nsv3324524 1 2893730 2893789 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486796 M 14 0 1 "" HG01352 nsv3324265 1 2893962 2893962 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489683,nssv14487257 M 14 2 0 "" HG02106,NA19434 nsv3324525 1 2894081 2894081 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480290,nssv14483746 M 14 2 0 "" HG02059,HG04217 esv3673964 1 2894269 2894414 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16495771 M 20 0 1 "" nsv1129126 1 2897521 2897611 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3961802 M 2 1 0 "" KWS1 esv3674530 1 2905955 2906080 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16496281 M 20 0 1 "" nsv545097 1 2909170 2919222 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708765 M 17421 0 1 "" esv7294 1 2911318 2912034 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29735 M 1 0 0 "" nsv4038033 1 2911424 2911850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851957 M 10847 0 1 "" esv4855 1 2911490 2911934 CNV loss Wang_et_al_2008 18987735 Sequencing essv27296 M 1 0 1 "" YH esv2667586 1 2911536 2911850 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5935603,essv6382314,essv5592265,essv6508860,essv5697903,essv6057477,essv5447744,essv6386313,essv5777985,essv6390027,essv5429758,essv6390650,essv5878194,essv6166535,essv5428152,essv6471882,essv5447805,essv6488904,essv5531187,essv6233318,essv5893770,essv6215307,essv5431123,essv6553706,essv5904263,essv6135267,essv5726003,essv6500485,essv5912437,essv6035403,essv5597447,essv6088168,essv5631767,essv5965992,essv5558327,essv6407852,essv5712060,essv6409577,essv5907508,essv6567925,essv5589478,essv6059076,essv5890825,essv6525387,essv5865000,essv6414549,essv5716623,essv6097870,essv5673315,essv6003240,essv5717642,essv6416709,essv5469348,essv6503602,essv5899267,essv6418922,essv5856810,essv6503607,essv5778444,essv6501274,essv5800077,essv6507030,essv5693233,essv5965560,essv5504884,essv6423304,essv5435936,essv6424164,essv5741322,essv6288601,essv5643554,essv6425321,essv5898796,essv6426326,essv5688414,essv5962761,essv5826988,essv6427134,essv5642245,essv6427320,essv5750076,essv6462531,essv5490928,essv6430296,essv5928482,essv6059706,essv5572191,essv6248812,essv5875505,essv6435010,essv5514647,essv6062470,essv5803288,essv6017543,essv5490976,essv6085222,essv5650561,essv6027374,essv5656032,essv6444118,essv5672362,essv6444702,essv5701034,essv5966983,essv5684112,essv6016530,essv5564212,essv6531586,essv5857475,essv6448555,essv5704851,essv6451584,essv5912479,essv6452183,essv5895777,essv6453170,essv5522431,essv6453260,essv5614234,essv6453878,essv5454994,essv6455744,essv5778612,essv6455860,essv5673991,essv6192928,essv5639321,essv6496876,essv5866133,essv5985580,essv5529389,essv6096167,essv5893861,essv6023067,essv5599481,essv6282062,essv5786723,essv6029670,essv5921357,essv5979194,essv5771748,essv5951358,essv5647612,essv6592379,essv5489245,essv6043574,essv5432275,essv6164704,essv5486533,essv6061978,essv5469481,essv6296610,essv5502157,essv6240356,essv5572810,essv6071298,essv5896668,essv6090651,essv5761784,essv6009364,essv5642484,essv6548915,essv5458624,essv6566499,essv5637052,essv6139442,essv5612072,essv5945472,essv5577290,essv6074675,essv5794795,essv6302425,essv5719839,essv6303278,essv5404463,essv6303811,essv5910785,essv6304212,essv5536256,essv6282586,essv5634505,essv6304341,essv5843227,essv6304368,essv5584890,essv6557510,essv5629229,essv6500333,essv5906920,essv6064594,essv5624718,essv6079485,essv5729242,essv6499626,essv5824283,essv6316689,essv5551330,essv5954480,essv5443311,essv5982590,essv5731720,essv6594821,essv5708533,essv6239650,essv5677856,essv6069551,essv5433339,essv6200401,essv5788490,essv6320529,essv5414557,essv6320741,essv5827690,essv6020974,essv5869052,essv6576278,essv5720133,essv6028525,essv5647681,essv6123083,essv5477946,essv6577574,essv5399971,essv6250047,essv5507776,essv6546084,essv5858963,essv6324571,essv5774344,essv6325314,essv5929203,essv6195869,essv5691787,essv6150955,essv5891034,essv6079552,essv5841860,essv6141935,essv5599535,essv6496407,essv5924521,essv6329132,essv5685298,essv6138939,essv5725070,essv6124274,essv5755211,essv6567597,essv5575340,essv6208177,essv5719282,essv6112486,essv5691096,essv6129225,essv5447486,essv6158664,essv5596378,essv6178123,essv5758043,essv6583551,essv5671053,essv6476173,essv5636136,essv6494449,essv5708654,essv6124221,essv5633640,essv6028850,essv5699555,essv5944221,essv5461812,essv5995042,essv5435381,essv6484674,essv5831713,essv5996953,essv5574767,essv5997269,essv5509926,essv6286314,essv5557036,essv6535176,essv5474192,essv6107651,essv5580301,essv6345432,essv5480759,essv6472809,essv5701686,essv6285915,essv5543551,essv6174985,essv5915770,essv6347902,essv5553306,essv5957593,essv5742756,essv6474271,essv5512415,essv6056868,essv5792620,essv6231796,essv5554599,essv6517932,essv5522718,essv6289370,essv5778284,essv6278895,essv5752055,essv6289495,essv5500985,essv6352766,essv5918835,essv5969130,essv5856474,essv6459210,essv5539004,essv6287666,essv5432906,essv6083586,essv5929348,essv6357511,essv5489110,essv6358698,essv5855943,essv6584130,essv5465497,essv6568335,essv5600500,essv6359035,essv5414063,essv6533516,essv5530400,essv6589446,essv5717384,essv6360480,essv5714971,essv6474145,essv5661341,essv6087893,essv5614898,essv5997070,essv5913453,essv6570143,essv5476202,essv6047266,essv6283295,essv6232842,essv6365732,essv6501835,essv6366191,essv6103358,essv6540235,essv6051652,essv6276334,essv6010568,essv6370344,essv6120270,essv6505896,essv6371236,essv6025859,essv6560103,essv6181482,essv6511759,essv6223844,essv6374716,essv6153588,essv6075567,essv6178908,essv6089632,essv6382925,essv6150690,essv5994376,essv6182430,essv6081983,essv6277988,essv6193962,essv6188176,essv6041414,essv6386009,essv6393805 M 1151 0 381 "" HG00137,HG00140,HG00154,HG00159,HG00179,HG00237,HG00249,HG00252,HG00254,HG00258,HG00271,HG00285,HG00313,HG00335,HG00345,HG00373,HG00421,HG00436,HG00437,HG00442,HG00448,HG00449,HG00472,HG00475,HG00476,HG00478,HG00479,HG00512,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00557,HG00566,HG00583,HG00590,HG00608,HG00610,HG00625,HG00628,HG00629,HG00654,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00699,HG00705,HG00707,HG00708,HG00732,HG00734,HG00736,HG01069,HG01075,HG01079,HG01083,HG01101,HG01108,HG01167,HG01170,HG01190,HG01204,HG01254,HG01334,HG01350,HG01351,HG01354,HG01357,HG01360,HG01366,HG01374,HG01378,HG01384,HG01465,HG01488,HG01491,HG01515,NA06986,NA06994,NA07048,NA07347,NA11829,NA11830,NA11831,NA11894,NA11918,NA11920,NA11933,NA11994,NA12043,NA12155,NA12249,NA12282,NA12287,NA12348,NA12383,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12776,NA12813,NA12827,NA12878,NA12891,NA18488,NA18498,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18520,NA18523,NA18526,NA18530,NA18532,NA18534,NA18537,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18560,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18573,NA18574,NA18577,NA18579,NA18582,NA18592,NA18596,NA18597,NA18599,NA18603,NA18605,NA18606,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18632,NA18634,NA18853,NA18856,NA18858,NA18861,NA18868,NA18870,NA18907,NA18909,NA18910,NA18916,NA18917,NA18924,NA18940,NA18941,NA18942,NA18944,NA18945,NA18947,NA18951,NA18953,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA18982,NA18985,NA18986,NA18987,NA18990,NA18991,NA19005,NA19010,NA19054,NA19055,NA19065,NA19066,NA19072,NA19098,NA19099,NA19102,NA19107,NA19108,NA19114,NA19119,NA19129,NA19130,NA19131,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19223,NA19236,NA19238,NA19239,NA19240,NA19257,NA19311,NA19312,NA19313,NA19316,NA19318,NA19319,NA19321,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19401,NA19403,NA19404,NA19428,NA19429,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19461,NA19466,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19474,NA19625,NA19654,NA19663,NA19670,NA19700,NA19701,NA19703,NA19704,NA19711,NA19712,NA19713,NA19716,NA19720,NA19722,NA19726,NA19732,NA19747,NA19776,NA19779,NA19780,NA19782,NA19818,NA19834,NA19835,NA19909,NA19914,NA19917,NA19920,NA19982,NA19985,NA20127,NA20276,NA20282,NA20287,NA20291,NA20317,NA20356,NA20507,NA20525,NA20529,NA20534,NA20536,NA20537,NA20585,NA20756,NA20765,NA20774,NA20796 nsv1126967 1 2911536 2911850 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985254 M 2 0 1 "" KWS1 esv3561870 1 2911536 2911875 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760617 M 767 0 1 "" nsv3323575 1 2911538 2911851 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14481219,nssv14483663,nssv14484316,nssv14473348,nssv14473558,nssv14482909,nssv14490744 M 14 0 7 "" HG00514,HG01352,HG02106,HG02818,HX1,NA12878,NA19240 nsv1146929 1 2911551 2911860 CNV deletion John_et_al_2014 26484159 Sequencing nssv3998289 M 1 0 1 "" KWB1 nsv4048247 1 2914009 2914063 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851965 M 10847 0 1 "" nsv3323369 1 2914292 2914292 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473083 M 14 1 0 "" NA19240 esv3577701 1 2914391 2932446 CNV loss Uddin_et_al_2014 25503493 SNP array essv9783755 M 873 0 1 "" 402060PD nsv951958 1 2916601 2957300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2998367 M 1 0 1 ACTRT2 BILGI_BIOE nsv3323576 1 2918597 2918676 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473460 M 14 0 1 "" HG00514 esv3585035 1 2918659 2919946 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841903 M 2504 0 1 "" HG01124 esv2667684 1 2918672 2919955 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6361039 M 1151 0 1 "" HG01124 nsv4050760 1 2918896 2919366 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851973 M 10847 0 1 "" esv2670784 1 2919031 2919366 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6378956,essv6013512,essv6509575,essv5882249,essv6383875,essv5699689,essv6272950,essv5832535,essv6391995,essv5543768,essv6392009,essv5626515,essv6395209,essv5422458,essv6287272,essv5880202,essv6478079,essv5718031,essv6406995,essv5676796,essv6473198,essv5676123,essv6408277,essv5656248,essv6149007,essv5946869,essv6213795,essv5602371,essv6287300,essv5516011,essv6465566,essv5888783,essv6578743,essv5504364,essv6429478,essv5729104,essv6567166,essv5941668,essv6525071,essv5802399,essv6582473,essv5670266,essv6197085,essv5756825,essv6441578,essv5431264,essv6446882,essv5402798,essv6200508,essv5994927,essv6231333,essv5609848,essv6502250,essv5815156,essv6293425,essv5749032,essv6588504,essv5593902,essv6527558,essv5404440,essv6246125,essv5707531,essv6251529,essv5451855,essv6108901,essv5813093,essv6298250,essv5658732,essv6300416,essv5938283,essv6286225,essv5919493,essv6229658,essv5984772,essv6461755,essv5695235,essv6097660,essv5948208,essv6311507,essv5502367,essv6125588,essv5776747,essv6496957,essv5588588,essv6183062,essv5980229,essv6463619,essv5950451,essv6252438,essv5683127,essv6467509,essv5743002,essv6319932,essv5688894,essv6320765,essv5910984,essv6488384,essv5968624,essv6473788,essv5608294,essv6216524,essv5865350,essv6057669,essv5753674,essv6333025,essv5466216,essv6221677,essv5430982,essv6077957,essv5455553,essv6544689,essv5768297,essv6071774,essv5489446,essv6175610,essv5838156,essv6046184,essv5396024,essv6191912,essv5749338,essv6522160,essv5411894,essv6504886,essv5500108,essv6097296,essv5645942,essv6545117,essv5552976,essv6090818,essv5845033,essv6356611,essv5805781,essv6098192,essv6006306,essv6192468,essv6010515,essv6290344,essv5436797,essv6255770,essv5475936,essv6248609,essv5605448,essv6072478,essv5884558,essv6022989,essv5513115,essv6530854,essv5397498,essv6092954,essv5485071,essv5707701,essv5438938,essv5767237,essv5695368,essv5757246,essv5843000,essv5625343,essv5573415,essv5725435 M 1151 0 159 "" HG00098,HG00122,HG00137,HG00140,HG00148,HG00154,HG00159,HG00187,HG00237,HG00249,HG00252,HG00254,HG00285,HG00313,HG00335,HG00345,HG00361,HG00373,HG00421,HG00442,HG00476,HG00478,HG00512,HG00524,HG00525,HG00531,HG00533,HG00542,HG00557,HG00560,HG00592,HG00608,HG00611,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00692,HG00707,HG00708,HG01079,HG01083,HG01101,HG01112,HG01188,HG01204,HG01334,HG01351,HG01354,HG01357,HG01365,HG01366,HG01378,HG01488,HG01497,NA06986,NA11894,NA11918,NA11920,NA11933,NA12043,NA12046,NA12155,NA12249,NA12282,NA12348,NA12383,NA12489,NA12716,NA12750,NA12827,NA12878,NA12891,NA18532,NA18534,NA18537,NA18541,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18552,NA18555,NA18557,NA18560,NA18563,NA18564,NA18572,NA18573,NA18579,NA18597,NA18605,NA18606,NA18608,NA18609,NA18611,NA18612,NA18617,NA18619,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18632,NA18940,NA18943,NA18945,NA18947,NA18951,NA18953,NA18959,NA18964,NA18973,NA18983,NA18984,NA18986,NA19009,NA19057,NA19063,NA19065,NA19066,NA19072,NA19075,NA19080,NA19654,NA19663,NA19664,NA19720,NA19726,NA19731,NA19732,NA19746,NA19759,NA19771,NA19776,NA19779,NA19782,NA19783,NA19788,NA19914,NA20507,NA20525,NA20529,NA20537,NA20585,NA20756,NA20765,NA20771,NA20772,NA20786,NA20796 nsv1145309 1 2919031 2919366 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982400 M 2 0 1 "" KWS1 esv3561981 1 2919031 2919380 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760728 M 767 0 1 "" nsv3323577 1 2919033 2919368 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14793486,nssv14808150 M 14 0 2 "" HG02106,NA12878 esv3585036 1 2920631 3005757 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841904 M 2504 1 0 ACTRT2,LINC00982,PRDM16 HG01063 nsv1013792 1 2921860 3308288 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477002 M 29084 1 0 ACTRT2,LINC00982,MIR4251,PRDM16 nsv829759 1 2923149 3011137 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1450961,nssv1450850 M 95 0 2 ACTRT2,LINC00982,PRDM16 nsv545098 1 2926379 3006131 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708766 M 17421 0 1 ACTRT2,LINC00982,PRDM16 esv1972331 1 2932833 2933235 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4751842 M 1 0 1 "" NA18507 esv3675026 1 2932941 2933045 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16496727 M 20 0 1 "" nsv3324528 1 2932955 2933057 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486963,nssv14486412,nssv14489676,nssv14479427,nssv14483664 M 14 0 5 "" HG00514,HG00733,HG02106,NA12878,NA19240 esv2667710 1 2932976 2933125 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5431062,essv6398348,essv5398100,essv6400467,essv5564448,essv6542912,essv5500314,essv6538483,essv5870910,essv6104804,essv5795985,essv6092048,essv5688099,essv6038826,essv5804538,essv6540364,essv5438563,essv6311064,essv5663561,essv6187649,essv5873465,essv6046485,essv5581092,essv6075789,essv5869163,essv6571961,essv5786327,essv6174015,essv5519747,essv6212539,essv5783089,essv6360948,essv5410465,essv6031525,essv6366811,essv6369709,essv6371418,essv6207197,essv6112223 M 1151 0 39 "" HG00442,HG00449,HG00513,HG00581,HG00683,HG00699,HG01334,HG01350,HG01366,HG01498,NA12827,NA18505,NA18526,NA18545,NA18546,NA18559,NA18566,NA18570,NA18573,NA18605,NA18606,NA18611,NA18612,NA18621,NA18622,NA19114,NA19138,NA19190,NA19225,NA19374,NA19382,NA19383,NA19391,NA19395,NA20278,NA20281,NA20299,NA20341,NA20356 nsv3323370 1 2933251 2933251 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478923,nssv14481327,nssv14476604,nssv14483095,nssv14483111,nssv14478826,nssv14481982,nssv14481257,nssv14484451,nssv14480469,nssv14484354,nssv14483397,nssv14477412 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 esv3585037 1 2937832 2979482 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841905 M 2504 1 0 ACTRT2,LINC00982 HG01063 esv2494725 1 2942135 2943124 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5336919 M 1 1 0 "" NA18507 esv3415692 1 2942192 2943290 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692284 M 185 1 0 "" NA19240 nsv1144340 1 2942535 2942602 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995086 M 2 0 1 "" KWS1 nsv1125449 1 2942548 2942607 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983623 M 2 1 0 "" KWS2 esv3667023 1 2942602 2942602 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489524 M 20 1 0 "" nsv3324269 1 2942603 2942603 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488401,nssv14474241,nssv14472743,nssv14481999,nssv14474221,nssv14485261,nssv14482014,nssv14483392,nssv14483608,nssv14473544,nssv14478874,nssv14488479,nssv14485487,nssv14491531 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv3667034 1 2942644 2942644 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489534 M 20 1 0 "" esv3681130 1 2945839 2945905 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16502221 M 20 0 0 "" nsv4322169 1 2946981 2946982 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789163 M 10847 0 0 "" nsv1000306 1 2947704 3080940 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465345 M 29084 1 0 LINC00982,MIR4251,PRDM16 nsv1132818 1 2954294 2954363 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987611 M 2 1 0 "" KWS1 esv3684869 1 2954348 2954348 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469459 M 20 1 0 "" nsv3323578 1 2954349 2954349 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485971,nssv14479909,nssv14480760,nssv14476880 M 14 4 0 "" HG00514,HG02106,HX1,NA19240 nsv4535602 1 2959183 2959184 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030883 M 10847 1 0 "" esv3684936 1 2959216 2959216 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469519 M 20 1 0 "" nsv160478 1 2959267 2959267 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179056 M 24 "" nsv951959 1 2967601 3728600 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2999006 M 1 0 1 ARHGEF16,CCDC27,LINC00982,LRRC47,MEGF6,MIR4251,MIR551A,PRDM16,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 BILGI_BIOE nsv4537307 1 2972913 2972914 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030973 M 10847 1 0 "" nsv4461344 1 2973818 2973819 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030566 M 10847 1 0 "" nsv824697 1 2975857 2994712 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426367 M 31 1 0 LINC00982,PRDM16 AK6 nsv1076898 1 2985799 2987400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762113 M 1 0 1 PRDM16 KWP1 nsv1121743 1 2985900 2986400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968393 M 2 0 1 PRDM16 KWS2 nsv1142739 1 2986700 2987400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994238 M 2 0 1 PRDM16 KWS1 nsv4329450 1 2988393 3145676 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789172 M 10847 0 0 MIR4251,PRDM16 nsv545099 1 2993638 3055876 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172587 M 17421 0 1 MIR4251,PRDM16 1780862275_A dgv6e212 1 3003476 3021395 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577702,esv3577703 M 873 0 10 PRDM16 400241CP,40031BA,400439IM,400523GB,400793BR,400836LK,401025SM,401390DG,401459HF,401733CG esv3585038 1 3009447 3137148 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841906 M 2504 1 0 MIR4251,PRDM16 HG01063 nsv4461117 1 3011874 3011875 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030661 M 10847 1 0 PRDM16 esv3667091 1 3021145 3021145 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489586 M 20 1 0 PRDM16 nsv4284357 1 3021145 3021146 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028216 M 10847 1 0 PRDM16 nsv3323395 1 3021146 3021146 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488326,nssv14483551,nssv14478464,nssv14489006,nssv14484827 M 14 5 0 PRDM16 CHM1,HG01352,HG04217,HX1,NA19240 nsv4034823 1 3021604 3021731 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851980 M 10847 0 1 PRDM16 esv3675426 1 3026940 3027020 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497088 M 20 0 1 PRDM16 nsv3323396 1 3026945 3027024 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481969,nssv14489708 M 14 0 2 PRDM16 HG04217,NA12878 nsv1133794 1 3030941 3030996 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990220,nssv3995087 M 2 0 2 PRDM16 KWS1,KWS2 nsv3324540 1 3030968 3031019 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484617,nssv14490305 M 14 0 2 PRDM16 HG01352,NA19240 nsv4052167 1 3036508 3055273 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962751 M 10847 1 0 MIR4251,PRDM16 nsv4314266 1 3045506 3046277 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789181 M 10847 0 0 PRDM16 nsv4045176 1 3050769 3051011 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851991 M 10847 0 1 PRDM16 esv3363327 1 3053452 3053452 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8824118 M 185 1 0 PRDM16 NA12878 nsv4045413 1 3058536 3058601 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962759 M 10847 1 0 PRDM16 nsv457884 1 3062361 3104630 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv534983 M 1557 0 1 PRDM16 HGDP01234 nsv545100 1 3062361 3104630 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172588 M 17421 0 1 PRDM16 HGDP01234 esv3562426 1 3062996 3063463 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9761173 M 767 0 1 PRDM16 esv2664338 1 3062996 3063479 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6381855 M 1151 0 1 PRDM16 NA12287 esv2676112 1 3063031 3063348 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6514533,essv5787793,essv6446228,essv5955277,essv6197856,essv5572598,essv5787724,essv5839364 M 1151 0 8 PRDM16 HG01441,NA11843,NA19172,NA19189,NA19443,NA19453,NA19470,NA20797 nsv3324287 1 3063075 3063280 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487970 M 14 0 1 PRDM16 NA19434 esv2665020 1 3063483 3063603 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6442376,essv5502467,essv6030097,essv5812738,essv6173071,essv5723740,essv6163417,essv5787323,essv6022081,essv5458481,essv6558192,essv5403763,essv6165957,essv5559955,essv6159727,essv5580727,essv6234778,essv5507240,essv6116403,essv5599691,essv5541041 M 1151 0 21 PRDM16 HG00327,HG00335,HG00473,HG00531,HG00581,HG00583,HG00607,HG00654,HG00657,HG00662,HG00683,HG00702,HG00705,NA18547,NA18562,NA18595,NA18610,NA18611,NA18623,NA18949,NA19002 nsv4051370 1 3073303 3075228 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852018 M 10847 0 1 PRDM16 esv3382615 1 3079292 3079990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692291 M 185 1 0 PRDM16 NA19239 nsv3323402 1 3079417 3079417 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473998,nssv14487873,nssv14483698,nssv14478541,nssv14488836,nssv14480250,nssv14473841 M 14 7 0 PRDM16 CHM1,CHM13,HG00268,HG00514,HG02059,HX1,NA19434 esv3675469 1 3079469 3079618 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497126 M 20 0 1 PRDM16 nsv3323403 1 3079522 3079522 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485862,nssv14486317 M 14 2 0 PRDM16 HG00268,HG00733 esv3675516 1 3079617 3079906 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497169 M 20 0 1 PRDM16 nsv3323404 1 3079694 3079694 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476204,nssv14482999,nssv14482860,nssv14473569 M 14 4 0 PRDM16 HG00268,HG00733,HG02059,NA19434 nsv3324289 1 3079885 3079885 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477337,nssv14480306,nssv14484231,nssv14478963,nssv14478336 M 14 5 0 PRDM16 CHM1,CHM13,HG02059,HX1,NA19434 nsv3324549 1 3079905 3079905 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481011,nssv14473944,nssv14489714 M 14 3 0 PRDM16 HG00514,HG02059,HG02818 esv22935 1 3081707 3082806 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv20220 M 40 5 0 PRDM16 NA07037,NA12004,NA12828,NA18523,NA19240 nsv4037803 1 3081812 3082232 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962769 M 10847 1 0 PRDM16 nsv3323602 1 3081944 3082111 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474348,nssv14472917,nssv14491082,nssv14480788 M 14 0 4 PRDM16 CHM1,CHM13,HX1,NA19434 esv3562537 1 3082015 3082361 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9761284 M 767 0 1 PRDM16 esv2662377 1 3082051 3082399 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5730609,essv6521146,essv5512908,essv6391630,essv5543393,essv6395125,essv5462076,essv6112108,essv5406361,essv5850489,essv5659194,essv6244611,essv5771735,essv5926559,essv5642389,essv6201697,essv5559838,essv6508168,essv5703019,essv6181202,essv5397932,essv6191098,essv5806442,essv6538462,essv5710521,essv6422607,essv5651766,essv5926716,essv5755154,essv6429513,essv5675793,essv6129654,essv5494452,essv6584466,essv5398800,essv6448046,essv5731192,essv6252831,essv5541246,essv6027703,essv5542135,essv6292284,essv5779366,essv6568601,essv5774820,essv6461104,essv5443857,essv6224723,essv5781509,essv6157596,essv5693036,essv6286208,essv5783985,essv5840446,essv5464148,essv6298081,essv5424731,essv6082472,essv5555654,essv5990786,essv5529709,essv6588994,essv5545290,essv6117538,essv5665526,essv6100803,essv5752439,essv5987147,essv5649876,essv6306676,essv5744813,essv5841234,essv5675554,essv6251044,essv5812292,essv6015486,essv5678624,essv6172207,essv5526373,essv5943685,essv5665082,essv6506679,essv5431659,essv6116683,essv5478028,essv6322722,essv5501467,essv5896676,essv5647864,essv5848289,essv6089295,essv5904917,essv6091377,essv5874746,essv6542459,essv5977786,essv6025286,essv6020196,essv5848025,essv6504564,essv6337398,essv6337981,essv6189458,essv5899828,essv6526641,essv5930357,essv5983683,essv6091505,essv6225449,essv6245572,essv6249623,essv6356412,essv6274084,essv6049657,essv5828794,essv5861509,essv6068129,essv6230481,essv6000764,essv6193640,essv6373808,essv6032443,essv6163803,essv6125869,essv6153613,essv6387702,essv5875036 M 1151 0 127 PRDM16 HG00111,HG00123,HG00124,HG00125,HG00150,HG00151,HG00154,HG00159,HG00249,HG00250,HG00251,HG00256,HG00276,HG00277,HG00309,HG00310,HG00315,HG00318,HG00321,HG00324,HG00330,HG00331,HG00334,HG00337,HG00338,HG00342,HG00344,HG00346,HG00369,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00463,HG00464,HG00478,HG00500,HG00513,HG00533,HG00534,HG00543,HG00557,HG00580,HG00581,HG00584,HG00590,HG00607,HG00619,HG00620,HG00650,HG00651,HG00653,HG00656,HG00672,HG00690,HG00699,HG00701,HG00702,HG00705,HG00707,HG00708,HG00734,HG01060,HG01067,HG01069,HG01072,HG01073,HG01079,HG01080,HG01101,HG01107,HG01124,HG01125,HG01136,HG01170,HG01183,HG01204,HG01334,HG01350,HG01351,HG01365,HG01374,HG01375,HG01389,HG01462,HG01498,NA07051,NA07056,NA12043,NA12058,NA18519,NA18530,NA18534,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18558,NA18559,NA18574,NA18595,NA18596,NA18597,NA18599,NA18606,NA18612,NA18619,NA18620,NA18621,NA18635,NA18637,NA18910,NA18990,NA19312,NA19436,NA19463,NA19657,NA19720,NA19834,NA20510 nsv3323603 1 3082136 3082207 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488818,nssv14490185 M 14 0 2 PRDM16 HG00268,HG00733 nsv4033155 1 3082231 3082503 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852026 M 10847 0 1 PRDM16 nsv3324290 1 3082262 3082430 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476553,nssv14478237 M 14 0 2 PRDM16 HG01352,HG02059 nsv3323405 1 3082353 3082448 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482985,nssv14479541,nssv14483640 M 14 0 3 PRDM16 HG00514,HG02059,NA19434 nsv458995 1 3083712 3113680 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv535843 M 1557 0 1 PRDM16 HGDP00814 esv25107 1 3083952 3084887 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv12712 M 40 1 0 PRDM16 NA12156 dgv52n54 1 3083980 3086496 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545112,nsv545101 M 17421 0 2 PRDM16 nsv1076902 1 3083999 3085200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771603 M 1 0 1 PRDM16 KWP1 nsv545102 1 3084032 3084819 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708768 M 17421 1 0 PRDM16 dgv53n54 1 3084032 3086464 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545106,nsv545111,nsv545103 M 17421 7 0 PRDM16 dgv54n54 1 3084085 3084716 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545108,nsv545107,nsv545104,nsv545109,nsv545118,nsv545115,nsv545114 M 17421 0 16 PRDM16 dgv55n54 1 3084085 3084819 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545119,nsv545105 M 17421 0 5 PRDM16 nsv3323406 1 3084126 3084185 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485166 M 14 0 1 PRDM16 HG02818 dgv56n54 1 3084136 3084819 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545110,nsv545116 M 17421 19 15 PRDM16 nsv3324550 1 3084171 3084171 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489955 M 14 1 0 PRDM16 HG00268 nsv545113 1 3084187 3084342 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708801 M 17421 0 1 PRDM16 nsv545117 1 3084187 3086464 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708828,nssv708830,nssv708829,nssv708834,nssv708831,nssv708832,nssv708833 M 17421 5 2 PRDM16 nsv1142740 1 3084200 3085300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994239 M 2 0 1 PRDM16 KWS1 nsv3324551 1 3084246 3084246 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475365,nssv14479221,nssv14486310 M 14 3 0 PRDM16 CHM13,HG00268,HG00733 nsv3324291 1 3084306 3084306 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480509 M 14 1 0 PRDM16 CHM1 nsv3324552 1 3084366 3084366 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481051 M 14 1 0 PRDM16 HG00268 nsv3324292 1 3084419 3084419 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478613,nssv14486577 M 14 2 0 PRDM16 CHM1,HG00733 nsv3324553 1 3084488 3084488 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475302,nssv14479402 M 14 2 0 PRDM16 HG00268,HG00733 esv1279453 1 3084534 3084770 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3971964 M 2 0 1 PRDM16 HuRef nsv3324952 1 3084841 3084841 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488966 M 14 1 0 PRDM16 HG02818 nsv3323604 1 3084877 3084877 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477519,nssv14488578,nssv14481811,nssv14475899 M 14 4 0 PRDM16 CHM1,CHM13,HG00268,HG00733 esv3685263 1 3092626 3092626 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469813 M 20 1 0 PRDM16 nsv1142048 1 3092626 3092849 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978766,nssv3960946 M 2 2 0 PRDM16 KWS1,KWS2 nsv3323850 1 3092706 3092706 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481900,nssv14487771,nssv14487344,nssv14477171,nssv14483174,nssv14488819,nssv14473742,nssv14490765,nssv14475706,nssv14489219,nssv14484061,nssv14473446,nssv14490485 M 14 13 0 PRDM16 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4536430 1 3097279 3097280 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028875 M 10847 1 0 PRDM16 esv1001450 1 3097398 3098603 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586288 M 3 0 1 PRDM16 HuRef nsv4049317 1 3097404 3097560 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962796 M 10847 1 0 PRDM16 nsv4516500 1 3097404 3097941 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962806 M 10847 1 0 PRDM16 esv26942 1 3097463 3098803 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv18850 M 40 6 0 PRDM16 NA11931,NA12004,NA12006,NA12287,NA12776,NA15510 nsv3323851 1 3097509 3097509 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489447 M 14 1 0 PRDM16 HX1 nsv4042465 1 3097631 3097690 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851736 M 10847 0 1 PRDM16 nsv3323605 1 3097653 3097653 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479316 M 14 1 0 PRDM16 HG00268 nsv1125450 1 3097733 3097909 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983624 M 2 1 0 PRDM16 KWS2 nsv1078721 1 3097831 3098116 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3768427 M 1 1 0 PRDM16 KWP1 nsv1144341 1 3097886 3097962 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995088 M 2 0 1 PRDM16 KWS1 esv2447933 1 3097910 3097971 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5170486 M 1 0 1 PRDM16 NA18507 nsv3324953 1 3097918 3097918 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477047,nssv14484508,nssv14480867,nssv14484962 M 14 4 0 PRDM16 CHM1,CHM13,HG00268,HX1 nsv3323852 1 3097946 3097946 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477237 M 14 1 0 PRDM16 HG04217 nsv1115951 1 3097952 3098117 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3978513 M 2 1 0 PRDM16 KWS2 nsv954327 1 3097988 3098103 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000551 M 1 0 1 PRDM16 BILGI_BIOE nsv160334 1 3098015 3098015 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178912 M 24 PRDM16 nsv3324555 1 3098077 3098077 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489089,nssv14490300 M 14 2 0 PRDM16 HG04217,NA19240 nsv3323606 1 3098089 3098089 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473087 M 14 1 0 PRDM16 HG04217 nsv1142049 1 3098090 3098206 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3993559 M 2 1 0 PRDM16 KWS2 esv3685067 1 3098115 3098195 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16469637 M 20 0 0 PRDM16 nsv1074509 1 3098118 3098197 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767609 M 1 0 1 PRDM16 KWP1 nsv1137719 1 3098119 3098197 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990221 M 2 0 1 PRDM16 KWS2 nsv3324954 1 3098130 3098130 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482324 M 14 1 0 PRDM16 NA19240 nsv1132819 1 3098152 3098209 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987612 M 2 1 0 PRDM16 KWS1 nsv1125451 1 3098307 3098373 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983625 M 2 1 0 PRDM16 KWS2 esv2657185 1 3098346 3098555 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5731107,essv6384175,essv5599375,essv6384544,essv5591039,essv5938465,essv5575901,essv6211074,essv5682351,essv6029226,essv5512162,essv6201420,essv5606857,essv6267594,essv5530266,essv6398079,essv5708029,essv6107795,essv5641195,essv6102864,essv5408262,essv6406267,essv5717895,essv6411772,essv5437567,essv6413614,essv5493343,essv6266510,essv5573588,essv6085530,essv5561632,essv5838530,essv5433823,essv6421513,essv5509902,essv5960012,essv5587160,essv6115199,essv5634582,essv5836212,essv5468949,essv6450394,essv5632080,essv6041890,essv5485848,essv6481659,essv5670385,essv6456899,essv5576937,essv6292746,essv5598397,essv6292795,essv5676195,essv5760161,essv5527601,essv6089536,essv5608004,essv5922822,essv5652322,essv6144611,essv5716770,essv6090124,essv5632713,essv5795763,essv5596195,essv6183646,essv5489336,essv5866769,essv5443094,essv6184856,essv5517489,essv6303026,essv5688988,essv6303091,essv5553972,essv5821976,essv5625710,essv6034438,essv5494361,essv6194040,essv5433508,essv5788001,essv5705542,essv5977768,essv5497188,essv6063549,essv5651570,essv6483158,essv5649474,essv6028664,essv5635263,essv5951367,essv5538615,essv6320415,essv5477444,essv6031175,essv5630755,essv5909746,essv6514978,essv6287528,essv6581950,essv6176643,essv6595667,essv5767879,essv6589562,essv5972060,essv6564065,essv5983257,essv6519644,essv6262356,essv6519104,essv5920614,essv6125472,essv5897468,essv6010567,essv5813682,essv5960808,essv5808855,essv5934042,essv6063420,essv5880948,essv6203728,essv5976114,essv6156345,essv5955537,essv5809740,essv6353649,essv6143427,essv6149953,essv6130985,essv5743893,essv6155625,essv6039583,essv6001097,essv6276811,essv6016917,essv6147693,essv6179293,essv6367521,essv5902078,essv5759878,essv5929347,essv5918341,essv6371866,essv6209918,essv5748316,essv5912654,essv5818384,essv5880601,essv6160385,essv6174391,essv6377465,essv6377654,essv5800105,essv6307286,essv5976471,essv6257623,essv6252553,essv6382914,essv6383401,essv5817653,essv6153612 M 1151 0 162 PRDM16 HG00098,HG00111,HG00115,HG00124,HG00151,HG00152,HG00154,HG00159,HG00188,HG00249,HG00250,HG00264,HG00265,HG00272,HG00276,HG00277,HG00281,HG00308,HG00310,HG00311,HG00312,HG00313,HG00337,HG00338,HG00342,HG00344,HG00346,HG00357,HG00369,HG00380,HG00418,HG00428,HG00437,HG00463,HG00464,HG00533,HG00577,HG00580,HG00590,HG00593,HG00619,HG00625,HG00637,HG00651,HG00690,HG00693,HG00699,HG00705,HG00734,HG00736,HG00737,HG00739,HG01052,HG01060,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01107,HG01124,HG01136,HG01137,HG01171,HG01190,HG01191,HG01251,HG01253,HG01334,HG01353,HG01357,HG01359,HG01360,HG01374,HG01383,HG01384,HG01390,HG01441,HG01462,HG01489,HG01516,HG01521,NA07051,NA07056,NA11992,NA12058,NA12155,NA12341,NA12347,NA12399,NA18487,NA18507,NA18530,NA18541,NA18542,NA18550,NA18570,NA18574,NA18582,NA18597,NA18606,NA18612,NA18619,NA18620,NA18638,NA18868,NA18933,NA18963,NA18977,NA18986,NA18999,NA19055,NA19065,NA19074,NA19080,NA19088,NA19198,NA19225,NA19235,NA19312,NA19316,NA19317,NA19373,NA19374,NA19381,NA19396,NA19404,NA19435,NA19436,NA19437,NA19438,NA19451,NA19461,NA19463,NA19660,NA19670,NA19675,NA19685,NA19713,NA19720,NA19749,NA19758,NA19759,NA19761,NA19776,NA19783,NA19785,NA19917,NA19985,NA20294,NA20317,NA20341,NA20513,NA20529,NA20540,NA20588,NA20758,NA20802,NA20803,NA20805,NA20809 nsv3324956 1 3098354 3098354 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487692,nssv14475521,nssv14478411,nssv14480814,nssv14490179 M 14 5 0 PRDM16 HG00514,HG02059,HG02106,NA12878,NA19240 nsv1071333 1 3098366 3098489 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769828 M 1 0 1 PRDM16 KWP1 dgv20n106 1 3098371 3098489 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1122284,nsv1122617 M 2 0 2 PRDM16 KWS1,KWS2 esv3562648 1 3098371 3098489 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9761395 M 767 0 1 PRDM16 esv3675614 1 3098371 3098490 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497257 M 20 0 1 PRDM16 nsv1149038 1 3098391 3098451 CNV deletion John_et_al_2014 26484159 Sequencing nssv4002546 M 1 0 1 PRDM16 KWB1 nsv1130628 1 3098424 3098642 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966941 M 2 0 1 PRDM16 KWS2 nsv4049093 1 3101462 3101530 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852304 M 10847 0 1 PRDM16 nsv545120 1 3111748 3138111 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708840 M 17421 0 1 PRDM16 nsv829870 1 3126805 3256088 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1451405,nssv1451183,nssv1451072,nssv1451294 M 95 0 4 PRDM16 nsv4050685 1 3126909 3151690 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962832 M 10847 1 0 PRDM16 esv3685469 1 3129182 3129182 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470000 M 20 1 0 PRDM16 esv3384045 1 3130352 3130371 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678397 M 185 1 0 PRDM16 NA19240 nsv1132820 1 3131886 3131980 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987613 M 2 1 0 PRDM16 KWS1 esv3685533 1 3131933 3131933 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470057 M 20 1 0 PRDM16 nsv3324959 1 3131934 3131934 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475035,nssv14488996,nssv14476919,nssv14473055,nssv14473737,nssv14484527 M 14 6 0 PRDM16 CHM1,CHM13,HG02818,HX1,NA19240,NA19434 nsv3324960 1 3131973 3131973 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477908,nssv14485933 M 14 2 0 PRDM16 HG04217,NA19240 nsv3323854 1 3131981 3131981 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475245,nssv14485433,nssv14483105 M 14 3 0 PRDM16 HG00733,HX1,NA19434 dgv7e212 1 3140279 3153498 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577708,esv3577704,esv3577706,esv3577707 M 873 0 15 PRDM16 400061DE,400076LC,400361HC,400478WE,400515ZG,400574MA,400650RM,400893ZE,401021SC,401165SB,401183HP,401406KF,401505WI,401551MB,402064DC esv3585040 1 3144724 3209782 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841970 M 2504 1 0 PRDM16 HG01063 nsv527875 1 3144745 3208830 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704374 M 2026 0 1 PRDM16 nsv4533684 1 3147939 3147940 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031419 M 10847 1 0 PRDM16 nsv829981 1 3152592 3333816 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441530,nssv1441630,nssv1441607,nssv1441618,nssv1441563,nssv1441552,nssv1441596,nssv1441541,nssv1441674,nssv1441574,nssv1441641,nssv1441663,nssv1441519,nssv1441652,nssv1441685,nssv1441585 M 95 0 16 PRDM16 esv2639320 1 3177065 3177709 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5229663 M 1 1 0 PRDM16 NA18507 esv3685606 1 3177306 3177306 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470122 M 20 1 0 PRDM16 nsv3324962 1 3177307 3177307 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488976,nssv14484112,nssv14478627,nssv14475446,nssv14476722,nssv14489125,nssv14477323,nssv14479670,nssv14489718,nssv14481037,nssv14476037,nssv14483941,nssv14482669,nssv14483219 M 14 14 0 PRDM16 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv1132822 1 3186203 3186255 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987615 M 2 1 0 PRDM16 KWS1 nsv1147331 1 3186213 3186267 CNV insertion John_et_al_2014 26484159 Sequencing nssv4000105 M 1 1 0 PRDM16 KWB1 nsv4535377 1 3186275 3186276 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031994 M 10847 1 0 PRDM16 nsv1110989 1 3186275 3186350 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961418 M 2 1 0 PRDM16 KWS1 nsv3323611 1 3186320 3186320 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481233,nssv14475775,nssv14489072 M 14 3 0 PRDM16 CHM1,HG02818,NA19434 nsv545121 1 3188309 3203121 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708841 M 17421 0 1 PRDM16 nsv3324963 1 3203936 3203936 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488696 M 14 1 0 PRDM16 HG00514 esv3675746 1 3203946 3204186 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497375 M 20 0 1 PRDM16 nsv3324964 1 3204117 3204215 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473689,nssv14476910,nssv14488243,nssv14480210,nssv14477773,nssv14473112,nssv14487841,nssv14490167,nssv14486902 M 14 0 9 PRDM16 HG00268,HG00514,HG00733,HG01352,HG02106,HG04217,HX1,NA12878,NA19240 nsv1151429 1 3204129 3204184 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003992 M 1 0 1 PRDM16 KWB1 nsv3323612 1 3204202 3204202 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491678 M 14 1 0 PRDM16 HG04217 nsv4039050 1 3204259 3204458 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961977 M 10847 1 0 PRDM16 dgv6n67 1 3209858 3211328 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv824919,nsv824808 M 31 0 2 PRDM16 AK14,NA18552 esv3585041 1 3209922 3212186 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841972,essv9841971 M 2504 0 2 PRDM16 HG00581,NA18552 esv2670143 1 3209949 3212147 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6405701,essv6423827,essv6527111,essv6317073,essv6330380,essv6215077 M 1151 0 6 PRDM16 HG00418,HG00427,HG00581,HG00592,NA18552,NA19003 nsv4037178 1 3209952 3212147 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852321 M 10847 0 1 PRDM16 nsv7645 1 3214107 3249187 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4419 M 9 1 0 PRDM16 NA12878 nsv3324965 1 3214459 3214459 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484932 M 14 1 0 PRDM16 NA19434 nsv4535862 1 3214487 3214488 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032087 M 10847 1 0 PRDM16 nsv161030 1 3214565 3214565 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179608 M 24 PRDM16 esv2582992 1 3215213 3217295 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5311128 M 1 0 1 PRDM16 NA18507 esv2000244 1 3215531 3216456 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4511826 M 1 0 1 PRDM16 NA18507 nsv511673 1 3215607 3217688 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626311 M 1 0 1 PRDM16 1 esv1917341 1 3215619 3216216 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4748244 M 1 0 1 PRDM16 NA18507 esv22281 1 3215660 3217110 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 nsv3324561 1 3215743 3215743 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489045 M 14 1 0 PRDM16 HG04217 nsv3324562 1 3215831 3216257 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491736,nssv14477682,nssv14483562,nssv14488168,nssv14485956,nssv14477187,nssv14480318 M 14 0 7 PRDM16 HG00514,HG00733,HG02059,HG02106,HX1,NA12878,NA19240 nsv3323856 1 3216098 3216158 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472464,nssv14487350,nssv14489730,nssv14473803 M 14 0 4 PRDM16 CHM1,HG00268,HG04217,HX1 nsv545122 1 3216117 3217019 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708842 M 17421 0 1 PRDM16 nsv3323857 1 3216464 3216646 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482448 M 14 0 1 PRDM16 HG02059 nsv3324966 1 3216474 3216534 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474126,nssv14490889,nssv14474115,nssv14490211,nssv14485241,nssv14488389 M 14 0 6 PRDM16 HG00514,HG00733,HG02106,HX1,NA12878,NA19240 nsv1074510 1 3216499 3216900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772223 M 1 0 1 PRDM16 KWP1 nsv3323613 1 3216597 3216840 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477390,nssv14487364,nssv14479548,nssv14474320,nssv14482304 M 14 0 5 PRDM16 HG00514,HG00733,HG02106,HX1,NA12878 nsv3323614 1 3216728 3216849 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490562 M 14 0 1 PRDM16 HG02059 nsv3324967 1 3216784 3216966 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490607 M 14 0 1 PRDM16 HG04217 nsv3323858 1 3216912 3216972 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472432,nssv14473589,nssv14492003 M 14 0 3 PRDM16 CHM1,HG00268,HX1 nsv830092 1 3217946 3383373 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441807,nssv1441829,nssv1441840,nssv1441796,nssv1441752,nssv1441741,nssv1441774,nssv1441763,nssv1441729,nssv1441718,nssv1441818,nssv1441696,nssv1441707,nssv1441785 M 95 1 13 ARHGEF16,PRDM16 esv3675781 1 3220342 3220515 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497406 M 20 0 1 PRDM16 nsv3323615 1 3220344 3220515 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474772 M 14 0 1 PRDM16 NA19434 nsv1076915 1 3220353 3220539 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767351 M 1 0 1 PRDM16 KWP1 nsv522146 1 3227188 3228915 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694919 M 2026 0 1 PRDM16 nsv4051112 1 3229185 3229440 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962014 M 10847 1 0 PRDM16 nsv3323616 1 3233271 3233271 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484115 M 14 1 0 PRDM16 HG02059 nsv1115331 1 3236500 3238900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976383 M 2 1 0 PRDM16 KWS2 esv2662201 1 3238067 3238529 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5620017,essv5840751,essv5513919,essv6400750,essv5467613,essv6010041,essv5576041,essv5823120,essv5718955,essv6010527,essv5556253,essv6487762,essv5677945,essv6193777,essv5750981,essv6540045,essv5579548,essv6133019,essv5610976,essv6524346,essv5798711,essv6282849,essv5602859,essv5904874,essv5723965,essv6147593,essv5503928,essv6064507,essv5654746,essv5907889,essv5684629,essv6146874,essv5413984,essv5980277,essv5797750,essv6282709,essv5802014,essv6127966,essv5764376,essv6201031,essv5692928,essv6093751,essv6117936,essv6156319,essv6229789,essv6377111,essv6172970 M 1151 0 47 PRDM16 HG01094,HG01108,NA18486,NA18488,NA18510,NA18519,NA18520,NA18523,NA18853,NA18874,NA18907,NA18910,NA19092,NA19093,NA19099,NA19108,NA19116,NA19138,NA19313,NA19319,NA19321,NA19359,NA19360,NA19372,NA19373,NA19374,NA19377,NA19382,NA19431,NA19443,NA19455,NA19471,NA19472,NA19649,NA19676,NA19711,NA19818,NA19835,NA19900,NA19904,NA19920,NA20127,NA20287,NA20291,NA20322,NA20346,NA20507 nsv4040042 1 3242224 3242283 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852330 M 10847 0 1 PRDM16 nsv4036283 1 3242397 3242483 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962022 M 10847 1 0 PRDM16 nsv3324564 1 3242531 3242590 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14796047,nssv14805622 M 14 0 2 PRDM16 HG02059,HG02818 esv998521 1 3242595 3242653 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584219 M 3 0 1 PRDM16 HuRef esv3675816 1 3242596 3242716 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497438 M 20 0 1 PRDM16 nsv3323860 1 3242608 3242666 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14796875,nssv14808693,nssv14809449,nssv14805650,nssv14797103,nssv14799985 M 14 0 6 PRDM16 CHM13,HG00733,HG01352,NA12878,NA19240,NA19434 esv1330141 1 3242609 3242668 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3645168 M 2 0 1 PRDM16 HuRef nsv3324968 1 3242627 3242716 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483956 M 14 0 1 PRDM16 HG02818 nsv4051061 1 3244997 3245716 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852340 M 10847 0 1 PRDM16 esv3340545 1 3252392 3254790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692298 M 185 1 0 PRDM16 NA19240 nsv1141125 1 3252500 3254700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3992632 M 2 1 0 PRDM16 KWS2 esv3347294 1 3252592 3253890 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692299 M 185 1 0 PRDM16 NA19239 nsv1118426 1 3252700 3253900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958932 M 2 1 0 PRDM16 KWS1 nsv526836 1 3259113 3259183 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703193 M 2026 0 1 PRDM16 esv3685891 1 3260068 3260068 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470379 M 20 1 0 PRDM16 nsv4516501 1 3262224 3262297 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852350 M 10847 0 1 PRDM16 esv3675900 1 3262231 3262298 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497513 M 20 0 1 PRDM16 esv3656283 1 3262323 3262391 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16479859 M 20 0 0 PRDM16 nsv1076920 1 3262326 3262393 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764268 M 1 0 1 PRDM16 KWP1 nsv1133795 1 3262327 3262393 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969364 M 2 0 1 PRDM16 KWS2 nsv1122285 1 3264401 3264477 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969736 M 2 0 1 PRDM16 KWS2 nsv512711 1 3268066 3268106 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625335 M 1 1 0 PRDM16 1 nsv4050286 1 3269043 3269105 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852369 M 10847 0 1 PRDM16 nsv470687 1 3273063 3679774 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547682,nssv547677,nssv547680,nssv547685,nssv547679,nssv547683,nssv547675,nssv547674,nssv547681,nssv547676,nssv547686,nssv547684 M 443 0 8 ARHGEF16,CCDC27,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 HGDP00288,HGDP00298,HGDP00302,HGDP00546,HGDP00550,HGDP00657,HGDP00825,HGDP00978 nsv4535768 1 3274132 3274133 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029650 M 10847 1 0 PRDM16 nsv3323618 1 3274133 3274133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485925 M 14 1 0 PRDM16 HG02818 esv3676001 1 3288017 3288073 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497604 M 20 0 1 PRDM16 esv2758915 1 3288938 3548853 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 3289729 3301130 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536592 M 1557 0 1 PRDM16 HGDP00788 nsv545123 1 3289729 3301130 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172589 M 17421 0 1 PRDM16 HGDP00788 nsv522900 1 3293665 3294972 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698558 M 2026 0 1 PRDM16 nsv1076925 1 3295599 3296700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766166 M 1 0 1 PRDM16 KWP1 nsv1136060 1 3295600 3296600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989665 M 2 0 1 PRDM16 KWS2 nsv3324565 1 3295937 3295937 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474145 M 14 1 0 PRDM16 NA12878 nsv3323619 1 3296019 3296019 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483487 M 14 1 0 PRDM16 CHM1 nsv3323861 1 3296205 3296205 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474826 M 14 1 0 PRDM16 NA12878 nsv3323620 1 3296285 3296285 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480783 M 14 1 0 PRDM16 NA12878 nsv3324566 1 3296388 3296388 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487351 M 14 1 0 PRDM16 NA12878 nsv4537450 1 3300559 3300560 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029743 M 10847 1 0 PRDM16 nsv4536032 1 3300609 3300610 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030313 M 10847 1 0 PRDM16 nsv524467 1 3308034 3308498 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700403 M 2026 0 1 PRDM16 dgv1n21 1 3308034 3314596 CNV gain Shaikh_et_al_2009 19592680 SNP array nsv527139,nsv521921 M 2026 2 0 PRDM16 esv3414281 1 3324792 3326890 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692300 M 185 1 0 PRDM16 NA19240 nsv4034471 1 3325159 3325249 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963407 M 10847 1 0 PRDM16 nsv3323622 1 3325228 3325228 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484396 M 14 1 0 PRDM16 HG02818 nsv4045177 1 3325249 3325373 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852378 M 10847 0 1 PRDM16 esv2658512 1 3325300 3325742 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5825792,essv5442746,essv6396674,essv5544323,essv6229268,essv5416482,essv6472486,essv5612429,essv6062443,essv5415576,essv6415451,essv5751828,essv6421345,essv5683921,essv6521454,essv5570301,essv6426264,essv5561326,essv6145497,essv5457541,essv6430636,essv5753076,essv6432957,essv5694021,essv6226057,essv5536391,essv6436961,essv5514782,essv6286815,essv5488483,essv5922207,essv5546149,essv6293451,essv5492481,essv6239558,essv5512898,essv5827967,essv5405859,essv5827153,essv5640915,essv6205377,essv5473193,essv6300687,essv5428889,essv6295141,essv5680358,essv6238029,essv5707079,essv6468293,essv5608926,essv6472020,essv5711992,essv6554556,essv5461948,essv5895839,essv6562101,essv6180680,essv6576147,essv5990793,essv6579467,essv5962612,essv6207899,essv6497657,essv6101588,essv6556662,essv6111677,essv5965811,essv6153056,essv6342267,essv5793609,essv5875312,essv5987102,essv6349013,essv6515768,essv6065680,essv6537650,essv6185499,essv5906030,essv6189238,essv5761519,essv6360850,essv5931372,essv6168011,essv6161183,essv6371198,essv6375990,essv5825626,essv5912664,essv5981317,essv6140912 M 1151 0 90 PRDM16 HG00123,HG00133,HG00342,HG00437,HG01170,HG01204,NA07051,NA11892,NA11893,NA11930,NA11932,NA12340,NA12348,NA12546,NA12778,NA12827,NA12830,NA12842,NA12889,NA18486,NA18499,NA18522,NA18545,NA18548,NA18553,NA18570,NA18595,NA18597,NA18602,NA18606,NA18853,NA18908,NA18912,NA18947,NA18950,NA18956,NA18973,NA19078,NA19107,NA19247,NA19248,NA19313,NA19332,NA19334,NA19350,NA19446,NA19471,NA19473,NA19652,NA19682,NA19684,NA19700,NA19713,NA19789,NA19818,NA19920,NA20507,NA20513,NA20514,NA20521,NA20522,NA20525,NA20526,NA20533,NA20537,NA20581,NA20585,NA20760,NA20761,NA20771,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20798,NA20799,NA20801,NA20803,NA20805,NA20806,NA20809,NA20811,NA20812,NA20816,NA20819,NA20828 nsv1075973 1 3325367 3325419 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769982 M 1 0 1 PRDM16 KWP1 esv3347804 1 3326092 3326790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692301 M 185 1 0 PRDM16 NA19239 esv1000452 1 3334395 3339966 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565499 M 3 0 1 PRDM16 HuRef nsv4039785 1 3336374 3336437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852387 M 10847 0 1 PRDM16 nsv3323624 1 3344788 3344788 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480060 M 14 1 0 PRDM16 NA19434 nsv3324568 1 3344836 3344836 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475708 M 14 1 0 PRDM16 NA19434 esv4712 1 3349953 3350265 CNV loss Wang_et_al_2008 18987735 Sequencing essv27153 M 1 0 1 PRDM16 YH nsv3324974 1 3350047 3350124 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487858,nssv14487780 M 14 0 2 PRDM16 NA19240,NA19434 nsv4046660 1 3350788 3351443 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852414 M 10847 0 1 PRDM16 nsv4536298 1 3352020 3352021 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032125 M 10847 1 0 PRDM16 nsv4052354 1 3356660 3356716 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851124 M 10847 0 1 "" nsv4032724 1 3359121 3359789 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851134 M 10847 0 1 "" nsv830203 1 3362938 3524316 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441852,nssv1441863 M 95 0 2 ARHGEF16,MEGF6,MIR551A nsv160351 1 3367019 3367019 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178929 M 24 "" nsv3324569 1 3367019 3367019 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476825 M 14 1 0 "" HG02106 nsv3323862 1 3367077 3367077 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488378,nssv14491965 M 14 2 0 "" NA12878,NA19240 nsv3324570 1 3367165 3367165 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490735 M 14 1 0 "" HG00514 nsv545124 1 3368143 3405296 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708843 M 17421 0 1 ARHGEF16,MEGF6 esv3893545 1 3377442 3428608 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25779427 M 3017 0 1 ARHGEF16,MEGF6 nsv4048392 1 3379856 3379977 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851144 M 10847 0 1 ARHGEF16 nsv475972 1 3380182 3380182 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013178 M 9 1 0 ARHGEF16 NA12878 nsv476024 1 3383055 3383055 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013501 M 9 1 0 ARHGEF16 NA12878 nsv4041967 1 3385447 3385522 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851153 M 10847 0 1 ARHGEF16 esv3676034 1 3387390 3387463 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497634 M 20 0 1 ARHGEF16 esv3563426 1 3387427 3387479 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9762173 M 767 0 1 ARHGEF16 nsv3323626 1 3387428 3387479 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472238 M 14 0 1 ARHGEF16 NA12878 nsv3323627 1 3391618 3391677 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478734 M 14 0 1 ARHGEF16 HG02818 nsv3323628 1 3391637 3391637 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478356 M 14 1 0 ARHGEF16 HG02059 esv1571906 1 3391645 3391705 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4030830 M 2 0 1 ARHGEF16 HuRef nsv3323629 1 3391930 3392049 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483098 M 14 0 1 ARHGEF16 HG00514 nsv3324976 1 3392326 3392326 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480610 M 14 1 0 ARHGEF16 HG02059 nsv299 1 3393492 3429269 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 3393663 3393908 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652084 M 185 1 0 ARHGEF16 NA19240 esv3449417 1 3393811 3393872 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808964 M 185 1 0 ARHGEF16 NA12878 nsv3324977 1 3393868 3393868 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474374,nssv14475786,nssv14483808,nssv14474564,nssv14481437 M 14 5 0 ARHGEF16 CHM1,CHM13,HG00268,HG02059,NA19434 nsv3324571 1 3393882 3393882 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482764,nssv14473701 M 14 2 0 ARHGEF16 HG00514,HG02818 nsv1012423 1 3394250 4807509 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 nsv4032498 1 3399996 3407971 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851167 M 10847 0 1 MEGF6 esv3368997 1 3401063 3401063 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8825207 M 185 1 0 "" NA19240 dgv7n67 1 3401073 3405662 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv825142,nsv825364,nsv825031 M 31 3 0 MEGF6 NA18542,NA18951,NA18973 nsv825253 1 3401073 3405924 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434860 M 31 0 1 MEGF6 NA18942 nsv545125 1 3407007 3457295 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708844 M 17421 0 1 MEGF6 nsv3324295 1 3409700 3409762 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490309 M 14 0 1 MEGF6 HG02106 nsv4034478 1 3413617 3414168 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852043 M 10847 0 1 MEGF6 esv3417230 1 3418297 3418875 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808966 M 185 1 0 MEGF6 NA12878 nsv1120184 1 3418554 3418613 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960947 M 2 1 0 MEGF6 KWS1 esv2862902 1 3418554 3418668 CNV duplication Pang_et_al_2013b 24192839 Sequencing essv7132469 M 1 1 0 MEGF6 HuRef nsv1153001 1 3418555 3418637 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998036 M 1 1 0 MEGF6 KWB1 esv3667323 1 3418581 3418581 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489795 M 20 1 0 MEGF6 nsv1140403 1 3418581 3418660 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979109 M 2 1 0 MEGF6 KWS2 esv3352832 1 3418604 3418692 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652085 M 185 1 0 MEGF6 NA19240 esv1595391 1 3418613 3418613 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3895480 M 2 1 0 MEGF6 HuRef nsv1009360 1 3420135 3540212 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467524 M 29084 1 0 MEGF6,MIR551A esv3686261 1 3421585 3421585 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470711 M 20 1 0 MEGF6 nsv1135753 1 3427059 3427117 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989337 M 2 0 1 MEGF6 KWS2 nsv4048943 1 3429894 3430240 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852061 M 10847 0 1 MEGF6 dgv17n166 1 3433702 3460092 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4039089,nsv4046911 M 10847 0 2 MEGF6 nsv4043423 1 3435831 3448713 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852082 M 10847 0 1 MEGF6 nsv818333 1 3441264 3456871 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417807 M 112 0 1 MEGF6 NA18853 nsv10494 1 3446134 3451956 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv21444,nssv21442 M 31 0 2 MEGF6 NA18942,NA18975 nsv1142741 1 3447400 3448500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994240 M 2 0 1 MEGF6 KWS1 nsv519082 1 3455757 3456592 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696553 M 2026 1 0 MEGF6 nsv545126 1 3455757 3499246 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708845 M 17421 0 1 MEGF6,MIR551A nsv4035883 1 3460941 3461034 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852097 M 10847 0 1 MEGF6 nsv4048928 1 3463422 3463498 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852105 M 10847 0 1 MEGF6 nsv4039674 1 3470344 3470800 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852113 M 10847 0 1 MEGF6 nsv474159 1 3473389 3473389 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014646 M 9 1 0 MEGF6 NA18507 nsv1004180 1 3474631 3540212 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468122 M 29084 1 0 MEGF6,MIR551A nsv545127 1 3480149 3499246 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708846 M 17421 0 1 MEGF6 nsv4047537 1 3481851 3481916 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852681 M 10847 0 1 MEGF6 nsv818444 1 3487126 3510633 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417551 M 112 0 1 MEGF6 NA18971 nsv4517706 1 3488193 3489400 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963618 M 10847 1 0 MEGF6 esv3563537 1 3488273 3488330 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9762284 M 767 0 1 MEGF6 esv3676137 1 3488273 3488331 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497727 M 20 0 1 MEGF6 nsv3324983 1 3488274 3488330 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472657,nssv14489050 M 14 0 2 MEGF6 NA19240,NA19434 nsv3324582 1 3488378 3488378 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486736 M 14 1 0 MEGF6 CHM13 nsv4517447 1 3488730 3488972 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852690 M 10847 0 1 MEGF6 esv3676166 1 3488873 3488950 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497753 M 20 0 1 MEGF6 nsv1132823 1 3495303 3495360 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987616 M 2 1 0 MEGF6 KWS1 nsv1140107 1 3495306 3495384 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3978819 M 2 1 0 MEGF6 KWS2 esv1003247 1 3495308 3495308 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570647 M 3 1 0 MEGF6 HuRef esv3686478 1 3495309 3495309 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470907 M 20 1 0 MEGF6 nsv3324984 1 3495310 3495310 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472220,nssv14484057,nssv14483696,nssv14474443,nssv14489051,nssv14482808,nssv14478631,nssv14491359,nssv14473696,nssv14487134,nssv14473250 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240 nsv3324299 1 3495310 3495401 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476911 M 14 0 1 MEGF6 HG02059 esv1491138 1 3495329 3495329 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3621012 M 2 1 0 MEGF6 HuRef nsv4534143 1 3495348 3495349 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032134 M 10847 1 0 MEGF6 esv3686546 1 3495369 3495369 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470969 M 20 1 0 MEGF6 nsv3323868 1 3495370 3495370 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483427 M 14 1 0 MEGF6 NA19240 nsv1146093 1 3495385 3495468 CNV insertion John_et_al_2014 26484159 Sequencing nssv3999297 M 1 1 0 MEGF6 KWB1 esv3671809 1 3495417 3495526 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16493831 M 20 0 0 MEGF6 nsv3324300 1 3495438 3495438 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476434 M 14 1 0 MEGF6 NA19434 nsv4460835 1 3495439 3495440 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032144 M 10847 1 0 MEGF6 nsv3324583 1 3495461 3495461 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483559 M 14 1 0 MEGF6 NA19434 esv2470115 1 3499392 3502772 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5366115 M 1 0 1 MEGF6 NA18507 esv28730 1 3499732 3500631 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13258 M 40 0 3 MEGF6 NA12489,NA18861,NA18916 nsv3324584 1 3499826 3499879 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478117 M 14 0 1 MEGF6 HG02059 nsv3324301 1 3499869 3499869 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14473604 M 14 1 0 MEGF6 HG01352 nsv3324585 1 3499923 3499923 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486937,nssv14481162,nssv14474805,nssv14488155,nssv14477015,nssv14479119,nssv14490087 M 14 7 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,NA19240 nsv3323869 1 3499961 3500050 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477418,nssv14479692,nssv14487412 M 14 0 3 MEGF6 HG02059,HG02818,NA19434 nsv3324985 1 3499978 3499978 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473545,nssv14481761,nssv14478054,nssv14476802,nssv14491197,nssv14487144,nssv14476915,nssv14488381,nssv14491658,nssv14484266,nssv14472255,nssv14486394 M 14 12 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 esv3668876 1 3499995 3500327 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16491193 M 20 0 0 MEGF6 nsv3323870 1 3500013 3500013 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490602,nssv14481820,nssv14473251,nssv14473934,nssv14488297,nssv14482443,nssv14486365,nssv14485518,nssv14491307,nssv14476096,nssv14491231,nssv14484424 M 14 12 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 esv1062679 1 3500027 3500099 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4165604 M 2 0 1 MEGF6 HuRef nsv3324302 1 3500087 3500087 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488784 M 14 1 0 MEGF6 NA19434 nsv3324303 1 3500123 3500123 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490424 M 14 1 0 MEGF6 HG00514 nsv3324986 1 3500177 3500177 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474499 M 14 1 0 MEGF6 HG00514 nsv3324987 1 3500209 3500209 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480910,nssv14490483,nssv14473155 M 14 3 0 MEGF6 HG00268,HG00514,NA19434 nsv3324988 1 3500264 3500264 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484968,nssv14486956,nssv14472123,nssv14484132 M 14 4 0 MEGF6 HG00268,HG00514,HG00733,NA19434 nsv3324304 1 3500265 3500265 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475272,nssv14490472,nssv14488963,nssv14488201,nssv14482746,nssv14485701,nssv14483654,nssv14486869,nssv14483240,nssv14491911,nssv14477909 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv3324989 1 3500303 3500380 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474965 M 14 0 1 MEGF6 HG02818 nsv3323871 1 3500415 3500415 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486332,nssv14486821,nssv14485405,nssv14481618,nssv14487485,nssv14487806 M 14 6 0 MEGF6 HG00268,HG00514,HG01352,HG02106,HX1,NA12878 nsv3323872 1 3500450 3500450 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479391,nssv14483867,nssv14478182,nssv14487018,nssv14480012,nssv14478756,nssv14477357,nssv14490501,nssv14479634,nssv14488488,nssv14487955 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv1128585 1 3501300 3502900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960496 M 2 1 0 MEGF6 KWS1 esv3563648 1 3501599 3501823 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9762395 M 767 0 1 MEGF6 nsv4048151 1 3501614 3502215 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852699 M 10847 0 1 MEGF6 esv2672292 1 3501678 3502157 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5787617,essv6420111,essv5416542,essv6292374,essv5907773,essv6141781,essv5553326,essv5820942 M 1151 0 8 MEGF6 HG00442,HG00512,NA18545,NA18632,NA18956,NA18973,NA18987,NA19130 esv3413189 1 3501792 3503090 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692303 M 185 1 0 MEGF6 NA19240 esv3585042 1 3502139 4320143 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841974,essv9841973 M 2504 2 0 C1orf174,CCDC27,CEP104,DFFB,LINC01134,LOC728716,LRRC47,MEGF6,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 HG02481,NA20872 nsv3323873 1 3504422 3504422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472283,nssv14487223,nssv14486255,nssv14484566,nssv14475990,nssv14485715,nssv14484641,nssv14478194,nssv14484034,nssv14488718,nssv14480382 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02818,HG04217,NA12878,NA19240,NA19434 esv1072885 1 3504446 3504446 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4183764 M 2 1 0 MEGF6 HuRef nsv160325 1 3504447 3504447 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178903 M 24 MEGF6 nsv3324991 1 3504481 3504481 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474756 M 14 1 0 MEGF6 NA19434 nsv1075038 1 3504499 3505300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764892 M 1 0 1 MEGF6 KWP1 nsv1142742 1 3504500 3505100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994241 M 2 0 1 MEGF6 KWS1 nsv3324587 1 3504676 3504726 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484648,nssv14488427,nssv14490283 M 14 0 3 MEGF6 HG02059,HG04217,NA19434 nsv4034802 1 3507389 3507465 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963667 M 10847 1 0 MEGF6 nsv160986 1 3508189 3508254 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179564 M 24 MEGF6 nsv160621 1 3508211 3508276 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179199 M 24 MEGF6 esv3676338 1 3508320 3508387 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497908 M 20 0 1 MEGF6 nsv3324992 1 3508321 3508386 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482306,nssv14473711,nssv14486013,nssv14491702,nssv14489366,nssv14483106,nssv14478968,nssv14472247,nssv14474939,nssv14487603 M 14 0 10 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG04217,NA12878,NA19240,NA19434 nsv1140736 1 3508401 3508451 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992242 M 2 0 1 MEGF6 KWS1 esv1645766 1 3508420 3508486 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4161797 M 2 0 1 MEGF6 HuRef esv3585043 1 3508964 3515259 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841975 M 2504 0 1 MEGF6 HG03571 nsv4042524 1 3509138 3515263 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852707 M 10847 0 1 MEGF6 esv3676369 1 3513028 3513249 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497936 M 20 0 1 MEGF6 nsv3324305 1 3513116 3513116 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478701,nssv14478449 M 14 2 0 MEGF6 HG02818,NA19434 nsv3324589 1 3513233 3513233 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473407,nssv14475948 M 14 2 0 MEGF6 HG02818,HX1 nsv1132824 1 3513321 3513398 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987617 M 2 1 0 MEGF6 KWS1 dgv26e59 1 3521092 3522390 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3391335,esv3363109 M 185 2 0 MEGF6 NA19239,NA19240 esv3585044 1 3527608 3553912 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841976 M 2504 1 0 MEGF6,TPRG1L,WRAP73 NA20872 esv3585045 1 3527725 3603484 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841977 M 2504 1 0 MEGF6,TP73,TPRG1L,WRAP73 NA20872 nsv4051611 1 3528835 3528926 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963676 M 10847 1 0 "" nsv4051557 1 3530637 3532788 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852715 M 10847 0 1 "" nsv4034448 1 3540107 3540314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852722 M 10847 0 1 "" nsv4045249 1 3543460 3543563 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852730 M 10847 0 1 TPRG1L nsv1001715 1 3544183 3686318 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481065 M 29084 0 1 CCDC27,TP73,TP73-AS1,TPRG1L,WRAP73 nsv545128 1 3546935 3616601 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708847 M 17421 0 1 TP73,WRAP73 nsv410 1 3551651 3583644 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10069 M 9 1 0 TP73,WRAP73 NA18956 esv3676400 1 3556256 3556317 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497964 M 20 0 1 WRAP73 nsv3324306 1 3556257 3556316 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490135,nssv14487345 M 14 0 2 WRAP73 HG02818,NA19240 nsv3323875 1 3556317 3556317 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472794 M 14 1 0 WRAP73 NA19434 esv2247294 1 3556844 3557317 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4665883 M 1 0 1 WRAP73 NA18507 esv2489412 1 3559736 3561398 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5381740 M 1 0 1 WRAP73 NA18507 nsv3324993 1 3560142 3560294 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475252,nssv14490385,nssv14491250,nssv14490433,nssv14480274,nssv14480767,nssv14488724,nssv14473821 M 14 0 8 WRAP73 CHM1,CHM13,HG00268,HG00514,HG00733,HX1,NA12878,NA19434 nsv3324994 1 3560142 3560549 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479537,nssv14490319,nssv14474652 M 14 0 3 WRAP73 HG01352,HG04217,NA19240 esv29463 1 3560245 3560955 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11696 M 40 0 1 WRAP73 NA15510 esv2853680 1 3560257 3560971 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123247 M 1 0 1 WRAP73 HuRef esv3676431 1 3560376 3560938 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497992 M 20 0 1 WRAP73 esv1007908 1 3560447 3560956 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571323 M 3 0 1 WRAP73 HuRef nsv3324307 1 3560887 3560937 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477769,nssv14473646 M 14 0 2 WRAP73 HG00514,HG04217 nsv3324308 1 3560948 3560998 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479074,nssv14486594,nssv14472666 M 14 0 3 WRAP73 HG01352,NA19240,NA19434 nsv3324309 1 3561997 3561997 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475474 M 14 1 0 WRAP73 NA19240 nsv4050325 1 3563994 3564097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852746 M 10847 0 1 WRAP73 nsv4559394 1 3573526 3573527 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032154 M 10847 1 0 TP73 nsv830314 1 3577340 3720839 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441985,nssv1441940,nssv1441874,nssv1441974,nssv1441929,nssv1441996,nssv1441918,nssv1441907,nssv1441951,nssv1441896,nssv1441963,nssv1441885 M 95 1 11 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 nsv4573358 1 3577482 3577483 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030318 M 10847 1 0 TP73 nsv4039584 1 3581723 3582247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852423 M 10847 0 1 TP73 nsv4040947 1 3582517 3584163 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963685 M 10847 1 0 TP73 esv2758916 1 3585041 3655536 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756833 M 270 1 0 TP73,TP73-AS1 NA10855 dgv8e212 1 3585911 3589696 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577709,esv3577710 M 873 0 5 TP73 400534ME,401030GI,401348RB,401898DS,402061PI nsv4035972 1 3591021 3591257 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852430 M 10847 0 1 TP73 nsv3325001 1 3591554 3591721 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480860,nssv14476891,nssv14483979,nssv14483353,nssv14489920,nssv14473205 M 14 0 6 TP73 HG00733,HG01352,HG02106,HG02818,HG04217,NA19434 nsv1150687 1 3591596 3591844 CNV deletion John_et_al_2014 26484159 Sequencing nssv3996159 M 1 0 1 TP73 KWB1 nsv1075979 1 3591645 3591925 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764110 M 1 0 1 TP73 KWP1 nsv3323882 1 3591889 3591950 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490323 M 14 0 1 TP73 HG02059 esv3671856 1 3596101 3596212 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16493874 M 20 0 0 TP73 nsv460061 1 3597017 3671791 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536686 M 1557 0 1 CCDC27,TP73,TP73-AS1 HGDP00787 nsv545129 1 3597017 3671791 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172590 M 17421 0 1 CCDC27,TP73,TP73-AS1 HGDP00787 esv3676486 1 3598418 3598492 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498041 M 20 0 1 TP73 nsv3324314 1 3598419 3598491 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475606,nssv14483630 M 14 0 2 TP73 HG00268,HG02106 nsv1140740 1 3598433 3598510 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992246 M 2 0 1 TP73 KWS1 nsv4042651 1 3598556 3598965 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963694 M 10847 1 0 TP73 dgv27e59 1 3610192 3611590 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3382922,esv3432428 M 185 1 0 TP73 NA19240 nsv3325003 1 3610302 3610302 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474680 M 14 1 0 TP73 HG04217 nsv3325004 1 3610311 3610311 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480861,nssv14484468,nssv14490274 M 14 3 0 TP73 CHM13,HG02106,HG02818 esv3676520 1 3610322 3610393 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498072 M 20 0 1 TP73 nsv3324604 1 3610324 3610464 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481322,nssv14487379 M 14 0 2 TP73 CHM1,HG00268 esv1394802 1 3610346 3610346 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4024850 M 2 1 0 TP73 HuRef nsv3323883 1 3610401 3610506 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485766,nssv14489607 M 14 0 2 TP73 HG02818,NA19434 nsv3323884 1 3610405 3610405 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482101,nssv14488042,nssv14479276,nssv14491497,nssv14490601 M 14 5 0 TP73 CHM13,HG02106,HG02818,HG04217,NA19240 nsv3324605 1 3610487 3610487 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478112,nssv14480500,nssv14483638 M 14 3 0 TP73 CHM13,HG02106,HG04217 nsv3325005 1 3610511 3610511 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481344,nssv14472872 M 14 2 0 TP73 HG02106,NA19240 nsv3324606 1 3610551 3610551 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473124,nssv14483653 M 14 2 0 TP73 HG01352,HG02059 nsv3324315 1 3610591 3610591 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479472,nssv14476092 M 14 2 0 TP73 HG02106,NA19240 esv3378361 1 3610592 3611590 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692311 M 185 1 0 TP73 NA19238 nsv3325006 1 3610655 3610655 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484663 M 14 1 0 TP73 NA12878 nsv3324316 1 3610657 3610657 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488056 M 14 1 0 TP73 NA19240 esv1032022 1 3610682 3610682 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3640841 M 2 1 0 TP73 HuRef nsv3324317 1 3610719 3610719 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488064,nssv14482355,nssv14491595 M 14 3 0 TP73 HG02106,HG02818,HG04217 nsv3323885 1 3610792 3610792 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485393 M 14 1 0 TP73 HG02106 esv1115862 1 3610827 3610827 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4358577 M 2 1 0 TP73 HuRef nsv3324318 1 3610840 3610840 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475979 M 14 1 0 TP73 HG02818 nsv3325007 1 3610875 3610875 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484791,nssv14472550,nssv14483328 M 14 3 0 TP73 CHM13,HG02106,HG04217 esv1634361 1 3610899 3611319 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3887450 M 2 0 1 TP73 HuRef nsv3324607 1 3610981 3610981 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489001 M 14 1 0 TP73 HG04217 nsv3325008 1 3611049 3611049 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488716,nssv14490532 M 14 2 0 TP73 HG02106,NA19434 nsv3323886 1 3611074 3611074 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479624,nssv14479946,nssv14483271,nssv14478380,nssv14475501,nssv14486716,nssv14484905 M 14 7 0 TP73 CHM13,HG00268,HG00514,HG02106,HG02818,HX1,NA12878 nsv3325009 1 3611141 3611141 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475478,nssv14481870,nssv14475167,nssv14476361,nssv14482695,nssv14472822,nssv14485913,nssv14491125,nssv14474044 M 14 9 0 TP73 CHM1,CHM13,HG00268,HG00514,HG02106,HG02818,HG04217,HX1,NA12878 nsv3324319 1 3611225 3611225 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488525,nssv14489773,nssv14484232,nssv14480648,nssv14472881,nssv14482941,nssv14489419,nssv14477051,nssv14488707,nssv14489043,nssv14480239,nssv14477828 M 14 12 0 TP73 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19434 nsv3323887 1 3611282 3611282 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472975,nssv14475237,nssv14489295,nssv14482837,nssv14489930,nssv14479151,nssv14491208,nssv14475125,nssv14486856 M 14 9 0 TP73 CHM13,HG00268,HG00733,HG02059,HG02106,HG02818,HX1,NA12878,NA19434 nsv3323888 1 3611319 3611319 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483892,nssv14481312,nssv14475653,nssv14487681,nssv14482163,nssv14473456,nssv14490486 M 14 7 0 TP73 CHM1,HG00268,HG00514,HG02106,HG02818,HX1,NA12878 nsv3324609 1 3611324 3611324 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479549,nssv14476795,nssv14491276,nssv14480020,nssv14476906,nssv14479174,nssv14475190 M 14 7 0 TP73 CHM13,HG00733,HG02059,HG02106,HG04217,HX1,NA19240 esv3676546 1 3611389 3611495 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498096 M 20 0 1 TP73 nsv1145949 1 3623006 3623092 CNV insertion John_et_al_2014 26484159 Sequencing nssv3997313 M 1 1 0 TP73 KWB1 nsv4044508 1 3632087 3632375 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852439 M 10847 0 1 TP73 dgv21n106 1 3641800 3643000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1136061,nsv1142743 M 2 0 2 TP73 KWS1,KWS2 nsv1075045 1 3642199 3643000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772995 M 1 0 1 TP73 KWP1 nsv4047505 1 3643276 3643342 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963727 M 10847 1 0 TP73 nsv4039385 1 3645782 3708715 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962039 M 10847 1 0 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 dgv13n100 1 3647012 3707880 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004361,nsv1002837 M 29084 2 0 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 nsv4534448 1 3648968 3648969 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024557 M 10847 1 0 TP73 nsv4537079 1 3649018 3649019 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024566 M 10847 1 0 TP73 nsv4518186 1 3649018 3649085 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962048 M 10847 1 0 TP73 nsv3325019 1 3649019 3649019 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472839 M 14 1 0 TP73 CHM13 esv994567 1 3652123 3655370 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565096 M 3 0 1 TP73,TP73-AS1 HuRef nsv4461137 1 3654036 3654037 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024575 M 10847 1 0 TP73-AS1 esv3675713 1 3656019 3656121 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16497345 M 20 0 0 TP73-AS1 nsv3323894 1 3656049 3656120 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483577 M 14 0 1 TP73-AS1 HG00733 nsv4517980 1 3656296 3656675 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962058 M 10847 1 0 TP73-AS1 nsv830425 1 3657453 3758389 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442007 M 95 1 0 CCDC27,CEP104,LRRC47,SMIM1,TP73-AS1 nsv478669 1 3658331 3658331 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012836 M 9 1 0 TP73-AS1 NA18507 esv2677777 1 3666629 3668433 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5908521 M 1151 0 1 "" NA19390 esv3585047 1 3670490 3671676 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841990,essv9841989,essv9841985,essv9841988,essv9841987,essv9841986,essv9841992,essv9841991 M 2504 0 8 CCDC27 HG02429,HG02479,HG02496,HG03370,NA18501,NA19307,NA19324,NA19397 esv2659590 1 3670537 3671607 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5770360,essv5786877,essv5470080,essv6424233,essv6060763,essv6182763,essv6358993 M 1151 0 7 CCDC27 NA18501,NA18853,NA18910,NA19373,NA19381,NA19397,NA19473 esv3585048 1 3672777 3685462 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841993,essv9841995,essv9841994 M 2504 3 0 CCDC27 NA19355,NA19434,NA20872 esv3687373 1 3674532 3674532 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16471712 M 20 1 0 CCDC27 nsv4517316 1 3689085 3689137 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852465 M 10847 0 1 "" nsv4517298 1 3689137 3689193 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852472 M 10847 0 1 "" esv3585049 1 3698222 3711516 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841997,essv9841996,essv9841998 M 2504 0 3 LRRC47 HG00610,HG00625,HG00626 esv3585050 1 3698222 3711516 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841999 M 2504 1 0 LRRC47 NA20872 nsv4461174 1 3704112 3704113 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023453 M 10847 1 0 LRRC47 nsv4048273 1 3707342 3707402 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852480 M 10847 0 1 LRRC47 nsv4051534 1 3713510 3722460 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853060 M 10847 0 1 "" nsv4537143 1 3714245 3714246 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023464 M 10847 1 0 "" nsv3324328 1 3714246 3714246 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475278 M 14 1 0 "" HG00268 nsv3324619 1 3714253 3714253 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482571 M 14 1 0 "" HG00733 esv1678500 1 3714289 3714289 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4118454 M 2 1 0 "" HuRef esv1763700 1 3716941 3717091 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4015442 M 2 0 1 "" HuRef dgv6e199 1 3716953 3717153 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2663574,esv2676394 M 1151 0 81 "" HG00108,HG00111,HG00125,HG00136,HG00140,HG00142,HG00151,HG00154,HG00232,HG00253,HG00261,HG00268,HG00275,HG00280,HG00284,HG00285,HG00309,HG00310,HG00318,HG00320,HG00324,HG00326,HG00331,HG00334,HG00337,HG00346,HG00436,HG00501,HG00524,HG00589,HG00590,HG00657,HG00662,HG00692,HG00740,HG01048,HG01051,HG01067,HG01073,HG01108,HG01125,HG01173,HG01187,HG01350,HG01353,HG01365,HG01374,HG01437,HG01440,NA07347,NA11918,NA12006,NA12830,NA18511,NA18517,NA18595,NA18623,NA18861,NA18953,NA19114,NA19138,NA19147,NA19172,NA19359,NA19371,NA19374,NA19375,NA19379,NA19381,NA19385,NA19390,NA19391,NA19394,NA19397,NA19439,NA20294,NA20332,NA20502,NA20507,NA20527,NA20528 esv3676656 1 3717002 3717153 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498195 M 20 0 1 "" nsv3323900 1 3717003 3717152 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490250,nssv14480553,nssv14480709,nssv14476169,nssv14476433 M 14 0 5 "" HG00268,HG00733,HG02818,NA19240,NA19434 nsv1112216 1 3717013 3717112 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965913 M 2 0 1 "" KWS2 nsv4034940 1 3718155 3723149 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853070 M 10847 0 1 "" nsv4041723 1 3729562 3729723 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853079 M 10847 0 1 CEP104 esv3585052 1 3734485 3844788 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9842001,essv9842002 M 2504 2 0 C1orf174,CEP104,DFFB,LINC01134 HG02481,NA20872 nsv3323903 1 3741528 3741595 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490418 M 14 0 1 CEP104 NA19434 nsv3323904 1 3741621 3741621 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484145 M 14 1 0 CEP104 NA19434 nsv509590 1 3743021 3819056 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 3743132 4343948 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 3748871 3749215 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4952306 M 1 0 1 CEP104 NA18507 nsv1141741 1 3748902 3748985 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3993247 M 2 1 0 CEP104 KWS2 nsv3324329 1 3748937 3749008 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488584 M 14 0 1 CEP104 NA19434 nsv3324621 1 3748985 3748985 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482305,nssv14486819,nssv14477921 M 14 3 0 CEP104 HG00733,HG02818,HG04217 esv1074506 1 3748997 3748997 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3942170 M 2 1 0 CEP104 HuRef nsv1140742 1 3749023 3749098 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992248 M 2 0 1 CEP104 KWS1 nsv3324622 1 3750817 3750869 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475084,nssv14476582,nssv14480606,nssv14481847,nssv14473022,nssv14472662,nssv14473535 M 14 0 7 CEP104 HG00733,HG02059,HG04217,HX1,NA12878,NA19240,NA19434 nsv3324330 1 3750951 3751004 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480890 M 14 0 1 CEP104 HG00733 nsv4047306 1 3757036 3757890 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853089 M 10847 0 1 CEP104 nsv159844 1 3759905 3761262 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178422 M 24 CEP104 nsv4047424 1 3763180 3763827 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853098 M 10847 0 1 CEP104 nsv4043410 1 3764627 3764985 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852754 M 10847 0 1 CEP104 esv3676217 1 3765007 3765070 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16497800 M 20 0 0 CEP104 nsv1116483 1 3770895 3770980 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3978664 M 2 0 0 CEP104 KWS2 nsv4035658 1 3772166 3772529 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852764 M 10847 0 1 CEP104 nsv4045622 1 3775606 3775708 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852770 M 10847 0 1 DFFB nsv4461143 1 3781958 3781959 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023472 M 10847 1 0 DFFB nsv479517 1 3783035 3783035 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012022 M 9 0 0 DFFB nsv3324332 1 3785234 3785234 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472045,nssv14483825,nssv14487004,nssv14491308,nssv14477444,nssv14476521,nssv14486172,nssv14485629,nssv14482129,nssv14477782,nssv14486984,nssv14484909,nssv14476653,nssv14481152 M 14 14 0 DFFB CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1467252 1 3785236 3785236 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4229403 M 2 1 0 DFFB HuRef nsv3324623 1 3785283 3785283 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474419 M 14 1 0 DFFB NA19434 nsv480404 1 3785495 3785495 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011405 M 9 0 0 DFFB nsv473755 1 3787116 3787116 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017508 M 9 1 0 DFFB NA12156 nsv479682 1 3787207 3787207 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012592 M 9 0 0 DFFB nsv4049570 1 3790119 3790508 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852781 M 10847 0 1 DFFB esv1008825 1 3790827 3790983 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3580646 M 3 0 1 DFFB HuRef esv1273516 1 3790827 3790984 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4131794 M 2 0 1 DFFB HuRef esv992605 1 3790827 3791061 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3585949 M 3 0 1 DFFB HuRef esv3676784 1 3790827 3791063 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498309 M 20 0 1 DFFB nsv3325029 1 3790828 3790906 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483073 M 14 0 1 DFFB NA19434 nsv3325030 1 3790898 3790975 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473702 M 14 0 1 DFFB NA19240 nsv3324334 1 3790976 3791053 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481617 M 14 0 1 DFFB NA19434 nsv480762 1 3791205 3791205 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012639 M 9 0 0 DFFB nsv476313 1 3791215 3791215 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014524 M 9 1 0 DFFB NA12878 nsv3324335 1 3791269 3791347 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491171 M 14 0 1 DFFB NA19434 nsv481045 1 3793002 3793002 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011297 M 9 0 0 DFFB nsv4461180 1 3793157 3793158 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023483 M 10847 1 0 DFFB nsv474298 1 3793685 3793685 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020439 M 9 1 0 DFFB NA18507 nsv480565 1 3794412 3794412 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012547 M 9 0 0 DFFB nsv480530 1 3794649 3794649 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014312 M 9 0 0 DFFB nsv474895 1 3794993 3794993 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014698 M 9 1 0 DFFB NA18956 nsv480658 1 3797056 3797056 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012832 M 9 0 0 DFFB nsv472199 1 3797102 3797102 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016248 M 9 1 0 DFFB NA18555 nsv480877 1 3798619 3798619 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015174 M 9 0 0 DFFB nsv480517 1 3799719 3799719 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011682 M 9 0 0 DFFB nsv480775 1 3799968 3799968 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015333 M 9 0 0 DFFB nsv4570178 1 3802039 3802040 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023494 M 10847 1 0 "" nsv3324625 1 3803031 3803031 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478608 M 14 1 0 "" HG04217 nsv480683 1 3803422 3803422 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014297 M 9 0 0 "" nsv4039515 1 3804996 3805558 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852788 M 10847 0 1 "" nsv474247 1 3805503 3805503 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015360 M 9 1 0 "" NA18507 nsv474199 1 3806517 3806517 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017129 M 9 1 0 C1orf174 NA18507 nsv4036218 1 3806639 3807131 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852798 M 10847 0 1 C1orf174 esv3676845 1 3808423 3809068 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498364 M 20 0 1 C1orf174 esv26417 1 3808437 3809202 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv16927 M 40 2 0 C1orf174 NA19099,NA19225 nsv3325032 1 3808516 3808607 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488614,nssv14482118,nssv14478070,nssv14477851 M 14 0 4 C1orf174 HG00733,HG02059,NA19240,NA19434 nsv3325031 1 3808516 3808745 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489635,nssv14474720,nssv14485894,nssv14486680,nssv14488600 M 14 0 5 C1orf174 HG00268,HG02818,HG04217,NA12878,NA19434 esv1352346 1 3808984 3809076 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4067715 M 2 0 1 C1orf174 HuRef nsv3324336 1 3809006 3809097 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491496,nssv14480881 M 14 0 2 C1orf174 HG04217,NA19434 dgv22n106 1 3836500 3837300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1136062,nsv1142744 M 2 0 2 "" KWS1,KWS2 nsv1074534 1 3836599 3837300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763412 M 1 0 1 "" KWP1 nsv3325033 1 3836987 3836987 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474901 M 14 1 0 "" HG01352 nsv3323907 1 3837061 3837061 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487396 M 14 1 0 "" HG01352 esv3687550 1 3843705 3843705 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16471872 M 20 1 0 "" nsv4045355 1 3843877 3844000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852813 M 10847 0 1 "" esv3585054 1 3995323 4001974 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844462,essv9844464,essv9844463 M 2504 3 0 LOC728716 HG01191,HG02481,NA20872 nsv4461187 1 3998182 3998183 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023505 M 10847 1 0 "" dgv3e214 1 4000527 4147217 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585055,esv3585056 M 2504 2 0 LOC728716 HG02481,NA20872 nsv460172 1 4014091 4080780 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536774 M 1557 0 1 "" HGDP00586 nsv545131 1 4014091 4080780 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172592 M 17421 0 1 "" HGDP00586 nsv4049259 1 4022229 4022722 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853113 M 10847 0 1 "" nsv479376 1 4025289 4025289 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017501 M 9 0 0 "" nsv4517385 1 4027958 4028354 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853121 M 10847 0 1 "" nsv481575 1 4028346 4028346 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018750 M 9 0 0 "" esv3676962 1 4033596 4033685 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498470 M 20 0 1 "" esv3687696 1 4033710 4033710 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472003 M 20 1 0 "" nsv3324632 1 4033711 4033711 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474536,nssv14472338,nssv14482193 M 14 3 0 "" HG02818,NA19240,NA19434 nsv4033471 1 4034926 4034992 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853130 M 10847 0 1 "" nsv521 1 4043864 4048033 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1327 M 9 1 0 "" NA19240 nsv4461898 1 4044557 4044558 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023514 M 10847 1 0 "" esv26736 1 4044756 4045264 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11152 M 40 0 1 "" NA18916 nsv4536694 1 4057318 4057319 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023526 M 10847 1 0 "" nsv4537201 1 4057337 4057338 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023536 M 10847 1 0 "" nsv1140108 1 4059742 4059804 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3978820 M 2 1 0 "" KWS2 nsv3323913 1 4059749 4059749 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491195,nssv14490423,nssv14486595 M 14 3 0 "" HG00268,HG01352,HX1 nsv4533037 1 4059777 4059778 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023562 M 10847 1 0 "" nsv3323914 1 4059779 4059779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489016,nssv14483751,nssv14489490 M 14 3 0 "" HG00268,HG01352,HX1 nsv3324635 1 4059796 4059854 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479929 M 14 0 1 "" CHM1 esv3332307 1 4059814 4059997 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652088 M 185 1 0 "" NA19240 esv3677027 1 4059822 4059941 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498528 M 20 0 1 "" nsv3325039 1 4059823 4059940 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481528,nssv14491618,nssv14481607,nssv14489639,nssv14475613,nssv14488592 M 14 0 6 "" CHM13,HG00514,HG02059,HG02106,HX1,NA19434 esv1003004 1 4059827 4059944 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578431 M 3 0 1 "" HuRef esv1647727 1 4059835 4059953 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3880229 M 2 0 1 "" HuRef nsv159163 1 4059836 4059953 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177741 M 24 "" nsv1149637 1 4059881 4059980 CNV deletion John_et_al_2014 26484159 Sequencing nssv4000933 M 1 0 1 "" KWB1 nsv1112217 1 4059899 4060023 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965914 M 2 0 1 "" KWS2 nsv3325040 1 4059956 4059956 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477369 M 14 1 0 "" CHM1 nsv3325041 1 4059967 4059967 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481311,nssv14487244,nssv14478422 M 14 3 0 "" HG00268,HG01352,NA19240 nsv3325042 1 4059995 4059995 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491695,nssv14475829,nssv14484369 M 14 3 0 "" HG00268,HG01352,NA19240 esv3687831 1 4059999 4059999 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472125 M 20 1 0 "" nsv4048528 1 4066579 4081465 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962097 M 10847 1 0 "" esv3677099 1 4068661 4068722 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498593 M 20 0 1 "" nsv4050161 1 4071671 4072368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853153 M 10847 0 1 "" nsv4461388 1 4071986 4071987 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16021362 M 10847 1 0 "" nsv4034628 1 4073557 4082344 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853164 M 10847 0 1 "" esv3585057 1 4075955 4077963 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844469 M 2504 0 1 "" HG02725 nsv4461191 1 4075963 4075964 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022111 M 10847 1 0 "" nsv3323916 1 4076983 4076983 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482026,nssv14485620 M 14 2 0 "" HG02818,NA12878 nsv3324637 1 4077000 4077000 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473816,nssv14479269,nssv14483598,nssv14474905,nssv14489379,nssv14480773,nssv14489134,nssv14483433,nssv14488576,nssv14480677 M 14 10 0 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19434 nsv3324342 1 4077024 4077024 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475931,nssv14483728,nssv14491044,nssv14479655,nssv14477262,nssv14484276,nssv14477711,nssv14489684,nssv14479293,nssv14480212,nssv14483594 M 14 11 0 "" CHM1,HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3323917 1 4077046 4077046 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478106,nssv14472199,nssv14474409,nssv14475633,nssv14490434,nssv14490871,nssv14480352,nssv14491128,nssv14491688,nssv14472637,nssv14491230 M 14 11 0 "" CHM1,HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv4045317 1 4088517 4088974 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853173 M 10847 0 1 "" nsv4562793 1 4104743 4104744 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022121 M 10847 1 0 "" esv3893656 1 4111187 4128523 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25779899 M 3017 0 1 "" nsv4534220 1 4112145 4112146 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022128 M 10847 1 0 "" nsv4533193 1 4112190 4112191 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022138 M 10847 1 0 "" nsv545132 1 4117238 4124657 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708848 M 17421 0 1 "" esv3893767 1 4117554 4299727 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25785971 M 3017 0 1 "" nsv460283 1 4117554 4299727 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536884 M 1557 0 1 "" HGDP00817 nsv545133 1 4117554 4299727 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172593 M 17421 0 1 "" HGDP00817 nsv520675 1 4120311 4123099 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697551 M 2026 0 1 "" nsv952035 1 4120501 4127700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2999228 M 1 0 1 "" BILGI_BIOE nsv4045598 1 4122531 4122619 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962854 M 10847 1 0 "" esv2674556 1 4123545 4127892 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6405492,essv5398297,essv6417603,essv6498795 M 1151 0 4 "" HG01515,HG01516,HG01519,HG01522 esv21720 1 4123843 4127968 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12064 M 40 0 3 "" NA12749,NA12878,NA19108 nsv545134 1 4123849 4127522 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708849 M 17421 0 1 "" nsv4032463 1 4123989 4124046 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853182 M 10847 0 1 "" dgv57n54 1 4124155 4128523 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545135,nsv545136 M 17421 2 0 "" nsv1153626 1 4124199 4127700 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002280 M 1 1 0 "" KWB1 nsv1077281 1 4124399 4127600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768494 M 1 1 0 "" KWP1 nsv1118427 1 4124400 4127700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958933 M 2 1 0 "" KWS1 esv5203 1 4124544 4124998 CNV loss Wang_et_al_2008 18987735 Sequencing essv27644 M 1 0 1 "" YH nsv1120185 1 4124612 4126897 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960948 M 2 1 0 "" KWS1 nsv3323920 1 4124978 4124978 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480149,nssv14475561,nssv14482019,nssv14483509,nssv14483769,nssv14485725 M 14 6 0 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA12878 nsv4518262 1 4124984 4126406 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853190 M 10847 0 1 "" nsv3324343 1 4125006 4125006 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479680,nssv14476423,nssv14487766,nssv14475115,nssv14484539,nssv14490310 M 14 6 0 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA12878 nsv1144342 1 4125007 4125067 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995089 M 2 0 1 "" KWS1 nsv511674 1 4125242 4125939 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626312 M 1 0 1 "" 1 nsv1145310 1 4125276 4126887 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982401 M 2 0 1 "" KWS1 esv1280652 1 4125335 4125432 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3810874 M 2 0 1 "" HuRef nsv1125452 1 4125387 4126897 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983626 M 2 1 0 "" KWS2 nsv3324344 1 4125613 4125613 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480789 M 14 1 0 "" HG00268 dgv28e59 1 4125692 4127790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3387532,esv3352978 M 185 2 0 "" NA19239,NA19240 nsv3324345 1 4125772 4125872 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486364,nssv14484457,nssv14491401 M 14 0 3 "" HG00514,HG02059,NA12878 esv5764 1 4125783 4127419 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28205 M 1 0 0 "" nsv3325047 1 4125838 4125965 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481182,nssv14487979,nssv14474225 M 14 0 3 "" CHM13,HG00268,HG02106 dgv7e199 1 4125979 4126949 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2669964,esv2669579 M 1151 0 156 "" HG00111,HG00116,HG00117,HG00119,HG00120,HG00124,HG00145,HG00154,HG00159,HG00190,HG00245,HG00253,HG00258,HG00264,HG00265,HG00280,HG00284,HG00285,HG00306,HG00310,HG00313,HG00325,HG00367,HG00427,HG00436,HG00472,HG00500,HG00501,HG00524,HG00534,HG00536,HG00542,HG00590,HG00683,HG00702,HG00705,HG00707,HG00732,HG01047,HG01055,HG01070,HG01095,HG01168,HG01173,HG01187,HG01198,HG01342,HG01351,HG01353,HG01359,HG01374,HG01440,HG01456,HG01465,HG01494,HG01519,NA06984,NA06989,NA07048,NA11830,NA11831,NA11994,NA12003,NA12154,NA12155,NA12341,NA12342,NA12347,NA12348,NA12400,NA18487,NA18489,NA18533,NA18541,NA18542,NA18559,NA18560,NA18561,NA18565,NA18595,NA18620,NA18625,NA18856,NA18867,NA18874,NA18908,NA18942,NA18950,NA18952,NA18964,NA18977,NA18988,NA18999,NA19004,NA19005,NA19060,NA19065,NA19066,NA19067,NA19068,NA19092,NA19172,NA19189,NA19213,NA19235,NA19331,NA19347,NA19350,NA19355,NA19372,NA19393,NA19440,NA19461,NA19471,NA19651,NA19654,NA19655,NA19658,NA19681,NA19682,NA19684,NA19701,NA19713,NA19725,NA19729,NA19731,NA19747,NA19771,NA19777,NA19779,NA19780,NA19783,NA19835,NA19900,NA19901,NA19904,NA19917,NA19921,NA19982,NA20299,NA20322,NA20340,NA20541,NA20544,NA20582,NA20588,NA20757,NA20769,NA20787,NA20795,NA20800,NA20801,NA20802,NA20810,NA20814,NA20816 nsv3323921 1 4126003 4126175 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474174,nssv14477742,nssv14475589,nssv14478697 M 14 0 4 "" CHM13,HG00514,HG02059,NA12878 nsv3324346 1 4126260 4127573 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482421,nssv14482401,nssv14479641,nssv14481484,nssv14473919,nssv14473123 M 14 0 6 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA12878 nsv1129454 1 4127134 4127228 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962908 M 2 1 0 "" KWS1 esv3677135 1 4127446 4127567 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498625 M 20 0 1 "" nsv1148039 1 4133090 4133152 CNV insertion John_et_al_2014 26484159 Sequencing nssv4001550 M 1 1 0 "" KWB1 esv23365 1 4136993 4138968 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 nsv3325048 1 4137300 4137647 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473714,nssv14486810,nssv14472286 M 14 0 3 "" HG00733,HG01352,HX1 esv1000769 1 4137301 4137706 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578155 M 3 0 1 "" HuRef nsv3324347 1 4137325 4137325 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476485 M 14 1 0 "" CHM1 nsv3324639 1 4137337 4137337 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476511,nssv14487315,nssv14483023 M 14 3 0 "" HG00268,HG02106,NA19434 esv1100125 1 4137381 4137787 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3668289 M 2 0 1 "" HuRef nsv3323922 1 4137383 4137383 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487266,nssv14481279,nssv14475059,nssv14474210 M 14 4 0 "" CHM13,HG00268,HG00514,HG02106 nsv3325049 1 4137383 4137440 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478301 M 14 0 1 "" HG02059 nsv3325050 1 4137458 4137458 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482827 M 14 1 0 "" HG01352 nsv3324348 1 4137490 4137490 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490938,nssv14489989,nssv14475535 M 14 3 0 "" HG00514,HG02059,NA19434 nsv3323923 1 4137548 4137548 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484472,nssv14481066,nssv14482413,nssv14487411,nssv14485289 M 14 5 0 "" CHM13,HG00268,HG00514,HG02106,NA19434 nsv3324640 1 4137664 4137664 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487980,nssv14484056,nssv14487258,nssv14481471,nssv14479434,nssv14486080 M 14 6 0 "" CHM1,HG00268,HG00733,HG02059,NA12878,NA19434 nsv3324349 1 4137688 4137688 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14492010,nssv14487631,nssv14488267 M 14 3 0 "" HG00733,HG01352,NA19434 nsv3324350 1 4137731 4137731 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481104 M 14 1 0 "" HG02059 nsv3324641 1 4137779 4137779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485158,nssv14477881,nssv14483317 M 14 3 0 "" CHM1,HG01352,NA19434 nsv3325051 1 4137803 4137803 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478098,nssv14488679,nssv14485176,nssv14478517,nssv14488519,nssv14473793,nssv14473656 M 14 7 0 "" CHM1,CHM13,HG00268,HG00514,HG02059,HG02106,NA19434 nsv821406 1 4137818 4138918 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420735 M 1 1 0 "" NA10851 nsv3324642 1 4137837 4137837 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475498,nssv14473389,nssv14481413,nssv14486384,nssv14479823,nssv14486753,nssv14490500,nssv14486331 M 14 8 0 "" CHM1,HG00268,HG01352,HG02059,HG02106,HG02818,NA12878,NA19434 nsv3324351 1 4137861 4137861 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472775,nssv14485074,nssv14478136,nssv14480391,nssv14475622,nssv14490342 M 14 6 0 "" CHM1,HG00268,HG01352,HG02059,HG02106,NA12878 nsv3325052 1 4137864 4137921 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473700 M 14 0 1 "" HG00733 nsv3324352 1 4137896 4137896 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489724,nssv14482171,nssv14479453 M 14 3 0 "" CHM1,HG00268,NA12878 nsv3323924 1 4137954 4137954 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483359,nssv14476726,nssv14473933,nssv14476790,nssv14474734,nssv14480540,nssv14476256,nssv14490162 M 14 8 0 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02818,NA12878,NA19434 nsv3324353 1 4137963 4137963 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482632,nssv14483774,nssv14480615,nssv14488835 M 14 4 0 "" CHM1,HG01352,HG02059,NA19434 nsv3323925 1 4138070 4138070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472253,nssv14475582,nssv14484336,nssv14472549,nssv14477020,nssv14481915 M 14 6 0 "" CHM1,HG00268,HG00733,HG02818,NA12878,NA19434 nsv3324643 1 4138125 4138125 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475620,nssv14488878,nssv14479410,nssv14477172 M 14 4 0 "" CHM13,HG00514,HG01352,HG02106 nsv3323926 1 4138148 4138148 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485984,nssv14483785,nssv14490890,nssv14481838,nssv14486084,nssv14474534,nssv14485445 M 14 7 0 "" CHM1,HG00268,HG01352,HG02059,HX1,NA12878,NA19434 nsv3323927 1 4138189 4138189 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478138,nssv14476376 M 14 2 0 "" HG02059,NA19434 nsv3323928 1 4138190 4138190 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472190 M 14 1 0 "" HG01352 nsv3323929 1 4138260 4138260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473210,nssv14487704,nssv14473640 M 14 3 0 "" CHM13,HG00514,HG02106 nsv3324355 1 4138343 4138343 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475554 M 14 1 0 "" HG02059 nsv3324644 1 4138364 4138364 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486398 M 14 1 0 "" HG01352 nsv3324645 1 4138410 4138525 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479784,nssv14486619,nssv14482128,nssv14485882,nssv14487410,nssv14480856 M 14 0 6 "" CHM13,HG00514,HG00733,HG02059,HG02106,HG02818 nsv3324356 1 4138537 4138537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479536,nssv14476481 M 14 2 0 "" HG01352,NA19434 nsv3324357 1 4138538 4138538 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486643,nssv14481527,nssv14475955,nssv14491819,nssv14483389,nssv14476273,nssv14479609,nssv14473043,nssv14485301 M 14 9 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HX1,NA12878,NA19434 esv1767486 1 4138561 4138561 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4227901 M 2 1 0 "" HuRef nsv509701 1 4142890 4219900 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619763 M 4 1 0 "" NA10860 esv2637444 1 4154509 4156134 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5194644 M 1 0 1 "" NA18507 esv2259067 1 4154970 4155665 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4563770 M 1 0 1 "" NA18507 esv7346 1 4154995 4155708 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29787 M 1 0 0 "" esv3887 1 4155049 4155584 CNV loss Wang_et_al_2008 18987735 Sequencing essv26328 M 1 0 1 "" YH esv3564426 1 4155097 4155500 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763173 M 767 0 1 "" nsv1147151 1 4155131 4155468 CNV deletion John_et_al_2014 26484159 Sequencing nssv3998511 M 1 0 1 "" KWB1 nsv958832 1 4155141 4155470 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005185 M 1 0 1 "" BILGI_BIOE esv2659809 1 4155146 4155460 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5596722,essv6011900,essv5495316,essv6118494,essv5436195,essv5797462,essv5689998,essv6274740,essv5716477,essv6385060,essv5555798,essv6282481,essv5733440,essv6389276,essv5463504,essv5790800,essv5718527,essv6390173,essv5525436,essv5792661,essv5455457,essv6207058,essv5695013,essv6040682,essv5619959,essv6395431,essv5754352,essv6470268,essv5580077,essv6593828,essv5657182,essv5891577,essv5468302,essv6011822,essv5445907,essv6397348,essv5669178,essv5914215,essv5584199,essv6496217,essv5429972,essv5851281,essv5718766,essv5862358,essv5764782,essv6579998,essv5731908,essv6237314,essv5480437,essv6260811,essv5576029,essv5782772,essv5462741,essv6001124,essv5710458,essv6494997,essv5671159,essv6009350,essv5766200,essv6409615,essv5759384,essv6254490,essv5425839,essv6026626,essv5593442,essv6172272,essv5436209,essv5918981,essv5586893,essv5907229,essv5409673,essv6414649,essv5709559,essv6414749,essv5444318,essv5828845,essv5735936,essv6195976,essv5625809,essv6034621,essv5742125,essv5796023,essv5700429,essv6420096,essv5765320,essv6162983,essv5507486,essv6421277,essv5460824,essv6421493,essv5619817,essv5908317,essv5693520,essv5857215,essv5645752,essv6426524,essv5454654,essv5934353,essv5764796,essv5878980,essv5404760,essv5811643,essv5659417,essv6431479,essv5557671,essv6433499,essv5624570,essv5814198,essv5697605,essv5825090,essv5675048,essv6045932,essv5645674,essv6438894,essv5625067,essv6010525,essv5601001,essv6457412,essv5591604,essv5778315,essv5544138,essv6087791,essv5514146,essv6440640,essv5738061,essv6499923,essv5595811,essv6442475,essv5662498,essv5824039,essv5596636,essv6443566,essv5474602,essv5795580,essv5743495,essv6445846,essv5539881,essv5934874,essv5656859,essv6088219,essv5539220,essv6448732,essv5581861,essv6449283,essv5434883,essv5799845,essv5490043,essv6026602,essv5738540,essv5971923,essv5502153,essv6451822,essv5507771,essv6209196,essv5592072,essv5999238,essv5667647,essv6149254,essv5613485,essv6454762,essv5444651,essv6455316,essv5420359,essv6455508,essv5492376,essv6455651,essv5554740,essv5779445,essv5570050,essv6069086,essv5655150,essv6143554,essv5692571,essv6108426,essv5436690,essv5822662,essv5537723,essv6051382,essv5632950,essv5936481,essv5488685,essv5849778,essv5513721,essv6062496,essv5745546,essv6255646,essv5584652,essv6181254,essv5564291,essv6010927,essv5439720,essv6589774,essv5745115,essv6086033,essv5488708,essv5787329,essv5676682,essv6132364,essv5642732,essv6533852,essv5493486,essv6568831,essv5462278,essv6198656,essv5440623,essv6284332,essv5487258,essv5931499,essv5551978,essv5860078,essv5447402,essv5881248,essv5546711,essv6199612,essv5626489,essv5958672,essv5553553,essv6101480,essv5423894,essv6196148,essv5491401,essv6297843,essv5481254,essv6567490,essv5493619,essv6194290,essv5610594,essv6241220,essv5638599,essv6134085,essv5570464,essv6299436,essv5423090,essv6236443,essv5544662,essv5989382,essv5674114,essv6000843,essv5662536,essv5922256,essv5690906,essv6301110,essv5514413,essv6301949,essv5763684,essv6155237,essv5417753,essv6553473,essv5593100,essv6228892,essv5425928,essv6211474,essv5545113,essv6178006,essv5679696,essv6512049,essv5769643,essv5958282,essv5563752,essv6305227,essv5552172,essv5969913,essv5467145,essv5871249,essv5510387,essv6231357,essv5683739,essv5928753,essv5721676,essv6222095,essv5416350,essv6088301,essv5527706,essv6543566,essv5690829,essv5956536,essv5580054,essv6582880,essv5649593,essv6028911,essv5525642,essv6587724,essv5633885,essv6233458,essv5649371,essv6203294,essv5618172,essv6239144,essv5554398,essv5840392,essv5735011,essv6313715,essv5722186,essv6541718,essv5591860,essv6315089,essv5711005,essv6042936,essv5416954,essv6281010,essv5552684,essv6315836,essv5568383,essv6092118,essv5400647,essv5850246,essv5473701,essv6316905,essv5432076,essv6317148,essv5742053,essv5814097,essv5440445,essv5996809,essv5738329,essv6086340,essv5530755,essv5859917,essv5472316,essv5927617,essv5461293,essv6036697,essv5645667,essv6028267,essv5613942,essv5950218,essv5561679,essv6256649,essv5412231,essv5937739,essv5769818,essv6249042,essv5460664,essv5829028,essv5744657,essv6227312,essv5657760,essv6593631,essv5574495,essv6190853,essv5515568,essv5975240,essv6242330,essv6174952,essv6120348,essv6040550,essv5935568,essv6145633,essv6069255,essv6327230,essv6054367,essv6489344,essv6328172,essv6213962,essv6482512,essv6272544,essv6329663,essv6329900,essv6219195,essv6025572,essv6268208,essv6060093,essv6100412,essv6593647,essv5966344,essv6285170,essv5960624,essv6069405,essv6109964,essv5949728,essv5888174,essv6335322,essv5869603,essv5836794,essv5874014,essv6260930,essv6337110,essv6337571,essv5933179,essv6257016,essv6004457,essv6521397,essv6265616,essv5986805,essv6082581,essv6228607,essv6339112,essv6199654,essv5835084,essv5907886,essv5864499,essv5815861,essv6490815,essv6263061,essv5779455,essv6534190,essv6541439,essv6343326,essv6568262,essv6168254,essv6343669,essv6344031,essv5995758,essv5835270,essv6161799,essv5794764,essv5883312,essv6079631,essv5924139,essv5864800,essv5929321,essv6472934,essv5948978,essv5906743,essv6484139,essv6211677,essv5795700,essv6159535,essv6510565,essv6009645,essv5838549,essv6121569,essv6248593,essv5982823,essv6176070,essv6489866,essv6503444,essv6001636,essv6466324,essv6355014,essv6050377,essv6089500,essv6243065,essv6003159,essv5828050,essv6148691,essv5810987,essv5915358,essv6358413,essv6358726,essv6477362,essv5988594,essv6534486,essv6472399,essv6361757,essv6003168,essv6253377,essv6535724,essv5931393,essv6539504,essv6112515,essv5964268,essv5987438,essv6003735,essv6518642,essv5797735,essv6364771,essv6260502,essv6365285,essv6159333,essv6038483,essv5849868,essv6009282,essv6485976,essv5851499,essv5860012,essv6370681,essv5872828,essv5949633,essv6371379,essv6116518,essv5851870,essv5906556,essv6494614,essv6123979,essv6271856,essv5854357,essv6225461,essv5984015,essv6563655,essv6213691,essv5953199,essv5864085,essv6376492,essv6123322,essv6267344,essv6524458,essv5814062,essv6048564,essv6571288,essv6281240,essv6099027,essv6584811,essv5849907,essv5891153,essv6595989,essv5942658 M 1151 0 497 "" HG00106,HG00108,HG00111,HG00117,HG00119,HG00124,HG00131,HG00136,HG00139,HG00140,HG00141,HG00142,HG00145,HG00149,HG00152,HG00158,HG00160,HG00177,HG00180,HG00182,HG00188,HG00237,HG00239,HG00246,HG00251,HG00253,HG00257,HG00263,HG00264,HG00265,HG00273,HG00275,HG00276,HG00278,HG00280,HG00282,HG00285,HG00306,HG00309,HG00319,HG00320,HG00324,HG00325,HG00326,HG00327,HG00328,HG00335,HG00337,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00361,HG00377,HG00404,HG00421,HG00422,HG00428,HG00473,HG00475,HG00479,HG00500,HG00513,HG00533,HG00534,HG00536,HG00556,HG00559,HG00566,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00595,HG00610,HG00611,HG00613,HG00619,HG00626,HG00634,HG00638,HG00640,HG00654,HG00656,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00704,HG00705,HG00708,HG00731,HG01047,HG01052,HG01060,HG01061,HG01069,HG01070,HG01072,HG01073,HG01080,HG01095,HG01098,HG01102,HG01107,HG01108,HG01112,HG01124,HG01133,HG01134,HG01136,HG01137,HG01140,HG01170,HG01171,HG01173,HG01174,HG01177,HG01183,HG01204,HG01250,HG01251,HG01253,HG01254,HG01334,HG01342,HG01350,HG01353,HG01354,HG01356,HG01357,HG01359,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01384,HG01437,HG01440,HG01441,HG01455,HG01461,HG01465,HG01488,HG01489,HG01491,HG01497,HG01498,HG01550,HG01551,NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10851,NA11831,NA11843,NA11881,NA11892,NA11894,NA11919,NA11920,NA11931,NA11933,NA11994,NA11995,NA12003,NA12005,NA12046,NA12058,NA12154,NA12155,NA12273,NA12342,NA12383,NA12400,NA12414,NA12489,NA12748,NA12763,NA12775,NA12813,NA12827,NA12830,NA12891,NA12892,NA18486,NA18487,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18534,NA18536,NA18539,NA18544,NA18545,NA18547,NA18548,NA18549,NA18553,NA18558,NA18560,NA18563,NA18567,NA18570,NA18571,NA18572,NA18574,NA18577,NA18595,NA18596,NA18603,NA18608,NA18610,NA18613,NA18615,NA18619,NA18620,NA18621,NA18626,NA18633,NA18636,NA18853,NA18856,NA18858,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18910,NA18912,NA18916,NA18923,NA18924,NA18933,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18982,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA19000,NA19003,NA19005,NA19007,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19092,NA19093,NA19098,NA19099,NA19102,NA19107,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19131,NA19137,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19213,NA19225,NA19235,NA19238,NA19239,NA19240,NA19248,NA19256,NA19257,NA19311,NA19312,NA19318,NA19334,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19384,NA19385,NA19390,NA19391,NA19393,NA19396,NA19398,NA19401,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19457,NA19462,NA19466,NA19467,NA19469,NA19470,NA19471,NA19472,NA19474,NA19625,NA19655,NA19660,NA19664,NA19670,NA19684,NA19685,NA19700,NA19703,NA19704,NA19707,NA19712,NA19729,NA19777,NA19779,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19909,NA19914,NA19916,NA19920,NA19985,NA20276,NA20281,NA20289,NA20332,NA20342,NA20503,NA20505,NA20509,NA20512,NA20513,NA20516,NA20519,NA20520,NA20521,NA20525,NA20533,NA20536,NA20537,NA20542,NA20581,NA20582,NA20586,NA20754,NA20759,NA20765,NA20771,NA20795,NA20798,NA20803,NA20804,NA20805,NA20808,NA20813,NA20815,NA20818,NA20819,NA20826 esv3677175 1 4155146 4155461 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498661 M 20 0 1 "" dgv23n106 1 4155146 4155483 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1140212,nsv1113062 M 2 0 2 "" KWS1,KWS2 nsv3324646 1 4155148 4155461 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14486523,nssv14472279,nssv14481514,nssv14490394,nssv14483449,nssv14487598,nssv14475174,nssv14472626 M 14 0 8 "" CHM1,HG00268,HG00514,HG00733,HG02818,HG04217,NA19240,NA19434 nsv4048944 1 4155159 4155460 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853200 M 10847 0 1 "" nsv4034916 1 4159686 4160480 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853210 M 10847 0 1 "" nsv4042146 1 4159938 4160754 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850403 M 10847 0 1 "" nsv3324358 1 4160007 4160007 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486852,nssv14488127,nssv14489872 M 14 3 0 "" HG00268,HG04217,NA19240 nsv3324647 1 4160066 4160066 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483763,nssv14482966,nssv14478224 M 14 3 0 "" CHM1,HG00268,HG04217 nsv3325055 1 4160067 4160067 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474058,nssv14479506,nssv14485222,nssv14472661,nssv14478677 M 14 5 0 "" HG00268,HG02059,HG04217,NA19240,NA19434 nsv3324648 1 4160097 4160097 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490522,nssv14480839,nssv14479687,nssv14487675,nssv14487212 M 14 5 0 "" HG00268,HG00733,HG02059,HG04217,NA19434 nsv3325056 1 4160163 4160163 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484705 M 14 1 0 "" NA19240 nsv3324359 1 4160182 4160182 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488071 M 14 1 0 "" CHM1 nsv4461158 1 4177315 4177316 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022146 M 10847 1 0 "" nsv1011866 1 4190253 4242573 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471886 M 29084 1 0 "" esv3585059 1 4194291 4196163 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844487 M 2504 0 1 "" HG01921 nsv4041649 1 4195071 4195234 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850412 M 10847 0 1 "" nsv1078722 1 4196028 4196589 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3770338 M 1 1 0 "" KWP1 nsv3323932 1 4196779 4196779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473327,nssv14480916,nssv14477924,nssv14476086,nssv14478522,nssv14472821,nssv14483792,nssv14488478,nssv14476503,nssv14490175,nssv14482752,nssv14489499,nssv14484164,nssv14488645 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1112137 1 4196797 4196797 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4248978 M 2 1 0 "" HuRef esv3585060 1 4197459 4220364 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844488,essv9844489,essv9844490 M 2504 3 0 "" HG00704,HG02481,NA20872 nsv4041084 1 4201419 4201513 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964024 M 10847 1 0 "" esv7714 1 4204440 4204620 CNV gain Ahn_et_al_2009 19470904 Sequencing essv30155 M 1 0 0 "" nsv1078723 1 4204523 4204610 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3766361 M 1 1 0 "" KWP1 nsv1140404 1 4204541 4204676 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987944,nssv3979110 M 2 2 0 "" KWS1,KWS2 nsv3324653 1 4204542 4204542 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487851,nssv14484413,nssv14476515,nssv14476056,nssv14484418,nssv14479799 M 14 6 0 "" HG00268,HG01352,HG02059,HG02106,HG04217,HX1 nsv1149892 1 4204562 4204634 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998679 M 1 1 0 "" KWB1 nsv1074544 1 4204628 4204726 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772339 M 1 0 1 "" KWP1 dgv24n106 1 4204629 4204717 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1113063,nsv1126968 M 2 0 2 "" KWS1,KWS2 esv3564537 1 4204636 4204688 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763284 M 767 0 1 "" esv3677200 1 4204636 4204689 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498684 M 20 0 1 "" esv3564648 1 4204667 4204717 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763395 M 767 0 1 "" esv2619231 1 4204675 4204724 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5231288 M 1 0 1 "" NA18507 nsv3323935 1 4204694 4204694 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476231,nssv14476419,nssv14476923,nssv14477579,nssv14477930,nssv14489373,nssv14476360,nssv14487659,nssv14482278,nssv14488652,nssv14491488,nssv14475938,nssv14489131,nssv14491764 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv1133796 1 4211996 4212055 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969366 M 2 0 1 "" KWS2 nsv4461904 1 4213905 4213906 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022156 M 10847 1 0 "" nsv4046856 1 4215418 4215526 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850421 M 10847 0 1 "" nsv527177 1 4216862 4227094 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703573 M 2026 0 1 "" nsv3325059 1 4222781 4222781 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489503,nssv14477759,nssv14481150,nssv14476751,nssv14474874,nssv14488354,nssv14478976,nssv14475897,nssv14484309,nssv14488782,nssv14479304,nssv14480935,nssv14477767 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 esv3585061 1 4232074 4233113 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844492,essv9844491 M 2504 0 2 "" HG02813,HG03246 nsv4035799 1 4235907 4242605 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850431 M 10847 0 1 "" nsv830536 1 4240010 4385181 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442018 M 95 1 0 "" nsv4049683 1 4246525 4246776 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964033 M 10847 1 0 "" nsv4051808 1 4257040 4259111 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850441 M 10847 0 1 "" esv3585062 1 4263601 4353020 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844493 M 2504 1 0 "" HG02481 nsv4034652 1 4270883 4271480 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850821 M 10847 0 1 "" esv3564870 1 4271187 4271483 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763617 M 767 0 1 "" nsv830647 1 4277307 4447580 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442029 M 95 1 0 "" nsv4535650 1 4279681 4279682 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022165 M 10847 1 0 "" nsv1003469 1 4280170 4302161 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466239 M 29084 0 1 "" nsv4517901 1 4280901 4281274 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850847 M 10847 0 1 "" nsv4050472 1 4281242 4303697 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850855 M 10847 0 1 "" esv3585063 1 4284510 4285952 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844512,essv9844494,essv9844511,essv9844496,essv9844501,essv9844510,essv9844495,essv9844500,essv9844497,essv9844499,essv9844498,essv9844504,essv9844509,essv9844503,essv9844502,essv9844505,essv9844508,essv9844507,essv9844506 M 2504 0 19 "" HG01497,HG02013,HG02502,HG02586,HG02715,HG02768,HG02804,HG02882,HG03123,HG03124,HG03372,HG03388,HG03394,HG03464,NA19131,NA19184,NA19238,NA19713,NA20351 dgv8e199 1 4284551 4285955 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2673458,esv2657756 M 1151 0 4 "" NA19238,NA19240,NA19704,NA19713 nsv3324657 1 4284607 4285943 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480659 M 14 0 1 "" NA19240 nsv4044614 1 4284610 4285943 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850864 M 10847 0 1 "" esv25427 1 4284635 4286005 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14207 M 40 0 1 "" NA19240 esv3390866 1 4288441 4288460 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678401 M 185 1 0 "" NA19240 esv3309075 1 4288449 4288450 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 nsv4532784 1 4288450 4288451 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023573 M 10847 1 0 "" esv3409348 1 4288450 4288462 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898469,essv8898474,essv8898478,essv8898482,essv8898480,essv8898472,essv8898477,essv8898476,essv8898471,essv8898479,essv8898473,essv8898475 M 185 12 0 "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190 nsv3325064 1 4288451 4288451 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14483308,nssv14478812,nssv14482730 M 14 3 0 "" HG00268,HG04217,NA19240 esv3307842 1 4288454 4288455 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7760230,essv7747544,essv7741132,essv7760907,essv7762140,essv7750355,essv7752966,essv7746447,essv7755504,essv7744805,essv7758826,essv7756460,essv7761652,essv7746182,essv7756302 M 185 15 0 "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190,NA19238,NA19239,NA19240 esv3405644 1 4288466 4288514 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674019,essv8674018,essv8674017 M 185 3 0 "" NA19238,NA19239,NA19240 esv3688146 1 4288552 4288552 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472408 M 20 1 0 "" esv3585065 1 4289375 4295838 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844981 M 2504 0 1 "" NA18645 nsv4461907 1 4310880 4310881 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023584 M 10847 1 0 "" nsv4051951 1 4313280 4334509 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852834 M 10847 0 1 "" nsv4049472 1 4319106 4319601 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852842 M 10847 0 1 "" nsv4048691 1 4323696 4324051 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852852 M 10847 0 1 "" esv3585066 1 4327442 4349182 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844982 M 2504 1 0 "" HG02481 esv3688212 1 4334302 4334302 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472468 M 20 1 0 "" nsv4461205 1 4351216 4351217 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024152 M 10847 1 0 "" nsv4041566 1 4356205 4356324 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853219 M 10847 0 1 "" nsv4461747 1 4359123 4359124 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024160 M 10847 1 0 "" nsv4534307 1 4363039 4363040 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024170 M 10847 1 0 "" nsv159648 1 4363044 4363044 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178226 M 24 "" nsv3325068 1 4363059 4363059 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485789 M 14 1 0 "" HX1 nsv1075054 1 4364350 4364416 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763220 M 1 0 1 "" KWP1 nsv1145311 1 4364351 4364416 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982402 M 2 0 1 "" KWS1 esv2676117 1 4364476 4366851 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5633387 M 1151 0 1 "" HG00543 esv3585067 1 4364598 4366814 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844983 M 2504 0 1 "" HG00543 nsv4461165 1 4372778 4372779 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024180 M 10847 1 0 "" nsv545137 1 4381253 4393442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708852 M 17421 0 1 "" nsv3324664 1 4387206 4387206 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476330 M 14 1 0 "" HG02059 esv3677301 1 4387216 4387299 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498775 M 20 0 1 "" nsv3325070 1 4387275 4387275 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483142 M 14 1 0 "" HG02059 nsv545138 1 4390289 4393029 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708853 M 17421 0 1 "" esv28339 1 4391581 4404275 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 nsv3323939 1 4391997 4391997 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482932,nssv14482680,nssv14475921,nssv14477465 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 nsv3323940 1 4392070 4392070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473441,nssv14487742,nssv14472387,nssv14482062 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 nsv3324665 1 4392165 4392165 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475256,nssv14487727,nssv14481765,nssv14485067 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 esv3672081 1 4392170 4392171 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494077 M 20 0 0 "" nsv3324666 1 4392468 4392525 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474836,nssv14474762 M 14 0 2 "" HG02059,HG04217 nsv545141 1 4392511 4393082 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708866,nssv708869,nssv708868,nssv708873,nssv708867,nssv708872,nssv708871,nssv708865,nssv708870,nssv708861,nssv708874,nssv708864,nssv708862,nssv708863 M 17421 11 3 "" dgv58n54 1 4392511 4393104 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545140,nsv545139,nsv545149,nsv545142 M 17421 0 9 "" dgv59n54 1 4392511 4393442 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545143,nsv545144 M 17421 28 10 "" nsv545145 1 4392511 4395235 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708916,nssv708915,nssv708914 M 17421 0 3 "" nsv511131 1 4392511 4395812 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626587 M 1 0 1 "" 1 dgv60n54 1 4392511 4403778 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545146,nsv545147,nsv545148 M 17421 3 0 "" dgv61n54 1 4392613 4393442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545151,nsv545150,nsv545152 M 17421 0 4 "" nsv545153 1 4392718 4393442 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708925 M 17421 1 0 "" nsv3325072 1 4392742 4392742 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490826 M 14 1 0 "" HX1 nsv3323941 1 4392742 4392828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480964,nssv14477973,nssv14491461,nssv14484538 M 14 0 4 "" HG00514,HG02059,HG04217,NA19434 nsv3324667 1 4392862 4392978 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489959 M 14 0 1 "" HG04217 dgv62n54 1 4392874 4393442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545154,nsv545155 M 17421 0 8 "" nsv3323942 1 4392961 4393076 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482707,nssv14475815,nssv14488318,nssv14473435 M 14 0 4 "" HG00514,HG02059,HG04217,NA19434 nsv3325073 1 4393619 4393619 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475390,nssv14479758,nssv14474478,nssv14478732 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 esv2505018 1 4396293 4397001 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5228093 M 1 1 0 "" NA18507 nsv3323943 1 4396559 4396559 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477542,nssv14479977,nssv14487978,nssv14482581,nssv14472918,nssv14476603,nssv14487732,nssv14485719,nssv14486863,nssv14474329,nssv14484476,nssv14480572,nssv14486506 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 esv3667781 1 4396561 4396561 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490207 M 20 1 0 "" esv1619694 1 4396588 4396588 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3918928 M 2 1 0 "" HuRef esv3677401 1 4403565 4403649 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498865 M 20 0 1 "" nsv545156 1 4403573 4403670 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708934,nssv708935 M 17421 0 2 "" nsv1140744 1 4403583 4403693 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992251 M 2 0 1 "" KWS1 esv3585068 1 4410747 4419657 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844984 M 2504 0 1 "" HG01670 esv3585069 1 4418628 4430107 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844985 M 2504 0 1 "" HG00384 esv275066 1 4421060 4424115 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585519 M 1250 0 1 "" dgv29e59 1 4428892 4430090 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3376842,esv3368163 M 185 2 0 "" NA19239,NA19240 nsv4047895 1 4435738 4436349 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853228 M 10847 0 1 "" esv3565203 1 4436028 4436353 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763950 M 767 0 1 "" esv2672854 1 4436053 4436357 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6139564,essv6000199,essv6465373 M 1151 0 3 "" HG00123,HG00257,HG01375 nsv4039568 1 4436053 4436676 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853797 M 10847 0 1 "" nsv3323947 1 4441431 4441480 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479672,nssv14474458,nssv14481095,nssv14472211 M 14 0 4 "" HG00514,HG02059,HG02818,NA19240 nsv4052062 1 4441792 4442116 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853807 M 10847 0 1 "" nsv4041995 1 4447448 4447630 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853814 M 10847 0 1 "" nsv830759 1 4447581 4669361 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442051,nssv1442040 M 95 0 2 LOC284661 nsv4461916 1 4452549 4452550 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024192 M 10847 1 0 "" nsv1008790 1 4453160 4464442 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482262 M 29084 1 0 "" esv3893878 1 4468747 4496256 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25797727 M 3017 0 1 LOC284661 nsv4044917 1 4471291 4471382 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853823 M 10847 0 1 "" nsv4051183 1 4471748 4472395 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853832 M 10847 0 1 LOC284661 nsv4038774 1 4474400 4475532 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853842 M 10847 0 1 LOC284661 esv2213507 1 4480157 4480574 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4764956 M 1 0 1 LOC284661 NA18507 nsv4038730 1 4480332 4481040 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853851 M 10847 0 1 LOC284661 nsv3324377 1 4480340 4480395 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487612,nssv14475303,nssv14490428,nssv14481944,nssv14488367,nssv14490745,nssv14474688,nssv14475828,nssv14487921,nssv14490967,nssv14487454,nssv14472204,nssv14488492 M 14 0 13 LOC284661 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19240,NA19434 esv1543124 1 4480354 4480416 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4354508 M 2 0 1 LOC284661 HuRef nsv4041459 1 4480354 4480417 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853862 M 10847 0 1 LOC284661 esv2672972 1 4488122 4488222 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6573552,essv5769901,essv6116106,essv5978506,essv6538357,essv5837934,essv6043739,essv5714456,essv5685157,essv5614695,essv6054418,essv5592587 M 1151 0 12 "" HG00419,HG00500,HG00614,HG00701,NA18546,NA18611,NA18622,NA18947,NA18949,NA18951,NA18956,NA19385 nsv3324673 1 4488124 4488223 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491957,nssv14485843 M 14 0 2 "" HG00514,HG01352 nsv4516863 1 4488147 4488363 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853870 M 10847 0 1 "" nsv4036293 1 4489585 4491478 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853876 M 10847 0 1 "" nsv4461513 1 4498021 4498022 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024200 M 10847 1 0 "" nsv4046640 1 4509221 4513165 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853893 M 10847 0 1 "" nsv4461753 1 4516532 4516533 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022173 M 10847 1 0 "" esv3688558 1 4517612 4517612 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472780 M 20 1 0 "" nsv545157 1 4523357 4552802 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708936 M 17421 1 0 "" dgv4e214 1 4525729 4531357 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585071,esv3585070 M 2504 0 2 "" HG02505,HG02554 nsv4037847 1 4525745 4531362 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853903 M 10847 0 1 "" esv3688628 1 4526020 4526020 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472842 M 20 1 0 "" esv3585072 1 4526142 4531352 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844990,essv9844992,essv9844991 M 2504 3 0 "" HG01396,HG02006,NA19451 esv2661002 1 4531112 4531246 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5772876,essv5966210,essv6134925 M 1151 0 3 "" HG01350,NA19403,NA19428 nsv3323958 1 4531128 4531247 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480514,nssv14488731 M 14 0 2 "" HG01352,NA19240 nsv4047998 1 4531141 4531204 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853914 M 10847 0 1 "" nsv4536999 1 4532042 4532043 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022182 M 10847 1 0 "" esv3310012 1 4532053 4532054 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 4532055 4532081 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674025 M 185 1 0 "" NA19239 nsv472740 1 4557950 4557950 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018924 M 9 1 0 "" NA18555 nsv4033141 1 4560137 4564954 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850881 M 10847 0 1 "" esv3585074 1 4561018 4564867 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845055 M 2504 0 1 "" NA18975 nsv4048084 1 4565157 4568907 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850889 M 10847 0 1 "" esv3672146 1 4568977 4568978 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494135 M 20 0 0 "" nsv460394 1 4573989 4592116 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536980 M 1557 0 1 "" HGDP01098 nsv4040606 1 4574827 4574926 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964054 M 10847 1 0 "" nsv4049916 1 4580580 4580740 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850898 M 10847 0 1 "" nsv4049774 1 4580614 4580896 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850907 M 10847 0 1 "" nsv4044549 1 4580659 4580783 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850917 M 10847 0 1 "" nsv1150138 1 4580748 4580914 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003434 M 1 0 1 "" KWB1 esv3565314 1 4580812 4580909 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764061 M 767 0 1 "" esv3688765 1 4580825 4580825 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472966 M 20 1 0 "" esv2671580 1 4580844 4581049 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6482185,essv5859093,essv6229009,essv5710584,essv6104316,essv5638302,essv6299431,essv5403681,essv6587502,essv5930263,essv6231661,essv5422846,essv6096784,essv6002759,essv6099990,essv5590938,essv6266311,essv5562243,essv6521795,essv5720705,essv6246274,essv5483632,essv6062337,essv5922543,essv6569382,essv5731698,essv6363560,essv6037263,essv6366529,essv5661666,essv6368850,essv5501578,essv6374513,essv5972701,essv6257927,essv5874860,essv6538900,essv5521901,essv6208030,essv5533759,essv5666271,essv5976681,essv5764373,essv5865402,essv5862798,essv5407184,essv5992912 M 1151 0 47 "" HG00111,HG00237,HG00252,HG00254,HG00257,HG00271,HG00275,HG00276,HG00277,HG00281,HG00282,HG00284,HG00310,HG00313,HG00318,HG00319,HG00323,HG00328,HG00329,HG00334,HG00335,HG00337,HG00339,HG00343,HG00478,HG00534,HG00584,HG00619,HG01051,HG01066,HG01072,HG01107,HG01108,HG01174,HG01187,HG01334,HG01374,HG01440,NA18520,NA18534,NA18537,NA18599,NA18605,NA19379,NA19381,NA19394,NA20513 nsv1124176 1 4580900 4581064 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975484 M 2 0 1 "" KWS1 nsv1075993 1 4580916 4581177 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766771 M 1 0 1 "" KWP1 nsv3323961 1 4582956 4583021 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478655 M 14 0 1 "" NA12878 nsv3324681 1 4583225 4583225 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483695 M 14 1 0 "" HG01352 esv1006796 1 4596030 4602089 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586737 M 3 0 1 "" HuRef esv21437 1 4597917 4603368 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13444 M 40 0 1 "" NA18861 esv3688839 1 4597961 4597961 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473032 M 20 1 0 "" esv3679034 1 4599930 4599989 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16500334 M 20 0 0 "" esv2469165 1 4603290 4604366 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5375102 M 1 1 0 "" NA18507 esv3667889 1 4603729 4603729 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490303 M 20 1 0 "" nsv4534303 1 4603741 4603742 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022193 M 10847 1 0 "" esv995887 1 4603762 4603762 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3569284 M 3 1 0 "" HuRef nsv3324684 1 4603762 4603762 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491656,nssv14483613,nssv14472557,nssv14479745,nssv14474063,nssv14483223,nssv14477925,nssv14472681,nssv14487441,nssv14478116,nssv14488498 M 14 11 0 "" CHM13,HG00268,HG00514,HG00733,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1262838 1 4603782 4603782 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3924372 M 2 1 0 "" HuRef nsv4048857 1 4611903 4617444 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850927 M 10847 0 1 "" nsv1076952 1 4635965 4636019 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770348 M 1 0 1 "" KWP1 nsv4461520 1 4653582 4653583 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022204 M 10847 1 0 "" esv3689015 1 4656770 4656770 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473191 M 20 1 0 "" nsv4461762 1 4658275 4658276 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022213 M 10847 1 0 "" nsv953824 1 4673301 4678700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000140 M 1 0 1 "" BILGI_BIOE nsv4036194 1 4676177 4676644 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850953 M 10847 0 1 "" esv2398993 1 4676313 4676822 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4895725 M 1 0 1 "" NA18507 nsv3324689 1 4676484 4676628 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472843,nssv14486514 M 14 0 2 "" HG00514,HG02059 esv3565425 1 4676496 4676645 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764172 M 767 0 1 "" nsv1072050 1 4676496 4676658 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764718 M 1 0 1 "" KWP1 esv2658197 1 4676497 4676644 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6578430,essv6235618,essv6551957,essv6510967,essv6570959,essv6485722,essv6587508,essv6386889,essv6580955,essv5956711,essv6589744,essv6396763,essv6549251,essv6401699,essv6561280,essv6103413,essv6551775,essv5796451,essv5624213,essv6150504,essv5656641,essv6133000,essv5445628,essv6410115,essv5412484,essv6412559,essv5446984,essv6477773,essv5708378,essv6536116,essv5407800,essv5923630,essv5531218,essv6418000,essv5669101,essv5970293,essv5621909,essv6185984,essv5451670,essv6420799,essv5718450,essv5768132,essv5525380,essv5996438,essv5690322,essv6165117,essv5492548,essv5833924,essv5680392,essv6147526,essv5738365,essv6440247,essv5504528,essv5999686,essv5490017,essv6495919,essv5488638,essv6003061,essv5407868,essv5948491,essv5586772,essv6452512,essv5455064,essv6004021,essv5628805,essv6106046,essv5491259,essv6029957,essv5640486,essv5823142,essv5666262,essv6088752,essv5494920,essv6177835,essv5692595,essv6288614,essv5488930,essv6111236,essv5434102,essv5755317,essv5434110,essv5821408,essv5669835,essv5817691,essv5625990,essv6462194,essv5679766,essv5790060,essv5700422,essv6013490,essv5651641,essv6035492,essv5565994,essv6157654,essv5628346,essv5773359,essv5690863,essv5991829,essv5466375,essv6300955,essv5590110,essv6303440,essv5588715,essv6469647,essv5595406,essv5881960,essv5549301,essv6462347,essv5532520,essv5852026,essv5545152,essv6307983,essv5636975,essv5934882,essv5737114,essv5912276,essv5628898,essv5935021,essv5743042,essv5772039,essv5434435,essv6194615,essv6313667,essv6187654,essv5909082,essv6039205,essv6320726,essv6201371,essv6210893,essv6127008,essv6149495,essv6170218,essv6323215,essv6156671,essv6256947,essv6276284,essv6325599,essv6045522,essv6326323,essv6082959,essv5935035,essv6130018,essv5895546,essv6469110,essv5917912,essv6220185,essv6167600,essv5906173,essv6198829,essv6520463,essv6514653,essv6058464,essv6351731,essv6352455,essv5858536,essv6011694,essv6261916,essv5869103,essv6360320,essv5867660,essv6200790,essv6362493,essv6522193,essv5918827,essv5812387,essv5991881,essv5990605,essv6524956,essv5911545,essv5849873,essv5764573,essv6024062,essv6465232,essv6169913,essv6099242,essv6129356,essv6279379,essv6160512,essv6494304,essv6005288,essv6064479,essv6492515 M 1151 0 182 "" HG00114,HG00125,HG00136,HG00375,HG00421,HG00437,HG00442,HG00473,HG00475,HG00478,HG00512,HG00513,HG00524,HG00530,HG00534,HG00536,HG00583,HG00607,HG00608,HG00611,HG00614,HG00619,HG00620,HG00628,HG00637,HG00657,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00699,HG00705,HG00731,HG01066,HG01073,HG01083,HG01097,HG01171,HG01177,HG01354,HG01440,NA07051,NA12546,NA12889,NA12891,NA18486,NA18487,NA18488,NA18511,NA18517,NA18523,NA18526,NA18530,NA18532,NA18538,NA18541,NA18544,NA18545,NA18546,NA18547,NA18549,NA18552,NA18553,NA18559,NA18561,NA18563,NA18566,NA18571,NA18572,NA18573,NA18595,NA18596,NA18605,NA18610,NA18612,NA18613,NA18616,NA18620,NA18624,NA18628,NA18631,NA18632,NA18633,NA18637,NA18638,NA18867,NA18870,NA18874,NA18912,NA18933,NA18941,NA18944,NA18949,NA18951,NA18952,NA18953,NA18960,NA18961,NA18963,NA18968,NA18974,NA18977,NA18980,NA18985,NA18989,NA18991,NA19000,NA19002,NA19004,NA19007,NA19054,NA19055,NA19057,NA19065,NA19066,NA19068,NA19070,NA19077,NA19080,NA19082,NA19084,NA19085,NA19087,NA19088,NA19102,NA19107,NA19108,NA19116,NA19147,NA19189,NA19198,NA19207,NA19210,NA19213,NA19239,NA19240,NA19312,NA19315,NA19318,NA19319,NA19324,NA19331,NA19334,NA19346,NA19347,NA19359,NA19374,NA19375,NA19379,NA19380,NA19381,NA19382,NA19383,NA19391,NA19428,NA19431,NA19434,NA19439,NA19453,NA19455,NA19462,NA19471,NA19473,NA19625,NA19712,NA19722,NA19818,NA19834,NA19982,NA19985,NA20278,NA20282,NA20287,NA20502,NA20505,NA20528,NA20544,NA20581,NA20819 esv2988766 1 4676509 4676644 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7258333 M 1 0 1 "" HuRef nsv4461765 1 4679309 4679310 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022221 M 10847 1 0 "" nsv4045340 1 4692590 4693241 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964062 M 10847 1 0 "" esv3677741 1 4692620 4693346 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499171 M 20 0 1 "" nsv3323967 1 4692690 4692690 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488153 M 14 1 0 "" HX1 nsv3325090 1 4692865 4693043 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472577,nssv14490468,nssv14475477,nssv14491144,nssv14472184 M 14 0 5 "" CHM1,HG00268,HG02106,HG04217,HX1 nsv3324692 1 4693000 4693000 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486554,nssv14477553,nssv14484423,nssv14476832,nssv14474694,nssv14490850 M 14 6 0 "" CHM13,HG00733,HG01352,HG02818,NA19240,NA19434 nsv3323968 1 4693065 4693065 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491844 M 14 1 0 "" HG00514 nsv3323969 1 4693075 4693214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481498 M 14 0 1 "" CHM1 nsv3324392 1 4693256 4693256 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478606 M 14 1 0 "" HG02059 nsv3324393 1 4693264 4693345 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477754 M 14 0 1 "" HG04217 nsv4047286 1 4703511 4704517 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850972 M 10847 0 1 "" esv3677802 1 4704402 4704517 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499226 M 20 0 1 "" nsv545158 1 4704955 4727086 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708937 M 17421 0 1 AJAP1 esv3330361 1 4706892 4709190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692349 M 185 1 0 "" NA19240 nsv1110990 1 4709240 4709332 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961419 M 2 1 0 "" KWS1 esv3585075 1 4709787 4714215 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845056 M 2504 0 1 "" HG04161 nsv825475 1 4713119 4717435 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433404 M 31 1 0 AJAP1 NA18526 nsv1076000 1 4713199 4716100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764200 M 1 0 1 AJAP1 KWP1 nsv1136063 1 4714200 4717900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989669 M 2 0 1 AJAP1 KWS2 nsv1126171 1 4714300 4716100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984400 M 2 0 1 AJAP1 KWS1 nsv3325092 1 4726115 4726115 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477721 M 14 1 0 AJAP1 CHM13 esv3679858 1 4726679 4726857 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16501077 M 20 0 0 AJAP1 esv1009421 1 4734774 4738126 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565733 M 3 0 1 AJAP1 HuRef nsv460505 1 4737531 4754057 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537066 M 1557 0 1 AJAP1 1780862093_A nsv545159 1 4737531 4754057 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172594 M 17421 0 1 AJAP1 1780862093_A nsv3324401 1 4742893 4742893 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473685 M 14 1 0 AJAP1 HG02059 nsv520031 1 4747737 4751030 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701964,nssv683157,nssv660165 M 2026 0 3 AJAP1 nsv521535 1 4747737 4772717 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694458 M 2026 0 1 AJAP1 nsv953834 1 4749601 4786100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000251 M 1 0 1 AJAP1 BILGI_BIOE nsv460617 1 4751030 4787119 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537158 M 1557 0 1 AJAP1 NINDS_66 nsv545160 1 4751030 4787119 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173647 M 17421 0 1 AJAP1 NINDS_66 nsv4047048 1 4762135 4762241 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850981 M 10847 0 1 AJAP1 nsv4036546 1 4771128 4771294 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851372 M 10847 0 1 AJAP1 nsv4041074 1 4773021 4773108 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851380 M 10847 0 1 AJAP1 nsv830870 1 4795386 4981299 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442062 M 95 0 1 AJAP1 nsv4036661 1 4796066 4796159 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851390 M 10847 0 1 AJAP1 esv2651800 1 4800146 4801190 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5191133 M 1 1 0 AJAP1 NA18507 nsv3323974 1 4800430 4800430 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483421,nssv14478548,nssv14481551,nssv14480551,nssv14489622,nssv14479240,nssv14473527,nssv14484876,nssv14491257,nssv14490662,nssv14473107,nssv14475368,nssv14489081,nssv14475559 M 14 14 0 AJAP1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv1076958 1 4813069 4813137 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764565 M 1 0 1 AJAP1 KWP1 nsv4536285 1 4813477 4813478 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022228 M 10847 1 0 AJAP1 nsv1126969 1 4818502 4818583 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985256 M 2 0 1 AJAP1 KWS1 nsv830981 1 4822265 4998251 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442074 M 95 1 0 AJAP1 esv3585076 1 4823184 4829674 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845057 M 2504 0 1 AJAP1 HG01369 esv3409614 1 4827658 4827704 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740928 M 185 1 0 AJAP1 NA12878 nsv4037867 1 4854004 4854113 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851409 M 10847 0 1 "" nsv4045923 1 4864528 4864624 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964080 M 10847 1 0 "" nsv1076959 1 4871246 4871319 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764294 M 1 0 1 "" KWP1 esv3649034 1 4871247 4871247 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473333 M 20 1 0 "" nsv1113064 1 4871247 4871319 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990224,nssv3982102 M 2 0 2 "" KWS1,KWS2 nsv521327 1 4872571 4874505 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697933 M 2026 0 1 "" dgv9e199 1 4882138 4883038 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2658527,esv2662806 M 1151 0 6 "" HG00150,HG00251,HG00256,HG00418,NA18990,NA19003 esv3585077 1 4882232 4883040 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845087,essv9845152,essv9845060,essv9845069,essv9845086,essv9845059,essv9845058,essv9845063,essv9845061,essv9845068,essv9845062,essv9845067,essv9845064,essv9845066,essv9845065,essv9845076,essv9845071,essv9845085,essv9845070,essv9845072,essv9845075,essv9845074,essv9845073,essv9845084,essv9845079,essv9845078,essv9845077,essv9845080,essv9845083,essv9845082,essv9845081,essv9845092,essv9845118,essv9845101,essv9845151,essv9845089,essv9845091,essv9845088,essv9845090,essv9845095,essv9845100,essv9845094,essv9845093,essv9845099,essv9845096,essv9845098,essv9845097,essv9845103,essv9845117,essv9845108,essv9845102,essv9845107,essv9845104,essv9845106,essv9845105,essv9845111,essv9845116,essv9845110,essv9845109,essv9845112,essv9845115,essv9845114,essv9845113,essv9845120,essv9845150,essv9845119,essv9845133,essv9845124,essv9845123,essv9845122,essv9845121,essv9845125,essv9845132,essv9845127,essv9845126,essv9845128,essv9845131,essv9845130,essv9845129,essv9845135,essv9845149,essv9845140,essv9845134,essv9845139,essv9845136,essv9845138,essv9845137,essv9845143,essv9845148,essv9845142,essv9845141,essv9845144,essv9845147,essv9845146,essv9845145,essv9845153 M 2504 0 96 "" HG00150,HG00251,HG00256,HG00625,HG01589,HG01773,HG01811,HG02070,HG02190,HG02494,HG02601,HG02651,HG02687,HG02688,HG02734,HG02736,HG02790,HG02792,HG03012,HG03022,HG03488,HG03491,HG03603,HG03640,HG03644,HG03645,HG03646,HG03673,HG03679,HG03680,HG03689,HG03692,HG03706,HG03730,HG03731,HG03744,HG03745,HG03755,HG03757,HG03765,HG03767,HG03771,HG03772,HG03780,HG03789,HG03793,HG03805,HG03808,HG03812,HG03824,HG03851,HG03863,HG03866,HG03870,HG03871,HG03905,HG03908,HG03940,HG03947,HG03953,HG03960,HG03963,HG03967,HG03969,HG03973,HG03977,HG03990,HG03991,HG03995,HG04023,HG04026,HG04039,HG04059,HG04060,HG04096,HG04099,HG04131,HG04141,HG04177,HG04212,HG04216,NA11995,NA18990,NA19003,NA20845,NA20852,NA20882,NA20887,NA20890,NA20894,NA20900,NA20904,NA20905,NA21103,NA21108,NA21144 esv3565759 1 4882345 4883040 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764506 M 767 0 1 "" nsv4041201 1 4882391 4883038 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851416 M 10847 0 1 "" nsv4049530 1 4885514 4885575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851424 M 10847 0 1 "" nsv4571503 1 4895093 4895895 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788837 M 10847 0 0 "" nsv4040386 1 4895603 4908562 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964089 M 10847 1 0 "" esv3585078 1 4899296 4900544 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845154 M 2504 0 1 "" HG00766 esv3585079 1 4903380 4919300 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845155 M 2504 0 1 "" HG01918 nsv632 1 4909413 4913572 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2960 M 9 1 0 "" NA18555 nsv4042342 1 4915986 4941854 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851440 M 10847 0 1 "" esv3649098 1 4922853 4922853 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473391 M 20 1 0 "" nsv4461773 1 4933030 4933031 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022239 M 10847 1 0 "" nsv473410 1 4937930 4937930 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018919 M 9 1 0 "" NA19129 nsv4048333 1 4940252 5066546 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851457 M 10847 0 1 "" nsv4049664 1 4962171 4962277 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851468 M 10847 0 1 "" nsv4045348 1 4964011 5002506 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964097 M 10847 1 0 "" nsv958396 1 4967651 4970598 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003727 M 1 0 1 "" BILGI_BIOE nsv4046420 1 4977902 4981870 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964107 M 10847 1 0 "" dgv14n100 1 4997503 5012355 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006916,nsv998217,nsv1006006 M 29084 5 0 "" nsv4570607 1 4997780 4997781 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022260 M 10847 1 0 "" esv3310485 1 4999187 5000196 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843542 M 185 1 0 "" NA19240 nsv1110991 1 4999501 4999561 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961420 M 2 1 0 "" KWS1 nsv3323978 1 4999510 4999510 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491837,nssv14484626,nssv14490050,nssv14474690,nssv14484407,nssv14483614,nssv14484640,nssv14477195,nssv14483828,nssv14490218,nssv14478936 M 14 11 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3325099 1 4999537 4999537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475455,nssv14482289,nssv14480541,nssv14484325,nssv14478632,nssv14486483,nssv14489393,nssv14491937,nssv14482113,nssv14479222,nssv14484627,nssv14481936,nssv14480871,nssv14486919 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv3328269 1 4999559 4999762 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652090 M 185 1 0 "" NA19240 esv3450010 1 4999657 4999773 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808971 M 185 1 0 "" NA12878 nsv4049389 1 5000531 5004163 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964122 M 10847 1 0 "" esv3382602 1 5006192 5006990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692354 M 185 1 0 "" NA19239 nsv4047703 1 5012056 5369598 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964132 M 10847 1 0 "" nsv4461779 1 5014118 5014119 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022269 M 10847 1 0 "" nsv4461780 1 5014227 5014228 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022280 M 10847 1 0 "" nsv4034661 1 5019521 5019862 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851484 M 10847 0 1 "" esv3585080 1 5028066 5056207 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845156 M 2504 0 1 "" NA19473 dgv10e199 1 5028103 5056368 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2659456,esv2674284 M 1151 0 1 "" NA19473 nsv4052370 1 5028128 5056280 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851494 M 10847 0 1 "" nsv1014919 1 5028204 5055851 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478565 M 29084 0 1 "" esv2764243 1 5028216 5060238 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 5031379 5054350 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv682279,nssv687649 M 2026 0 2 "" nsv474096 1 5038297 5038297 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011788 M 9 1 0 "" NA12156 nsv478576 1 5040904 5040904 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018520 M 9 1 0 "" NA18507 nsv4537509 1 5047129 5047130 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022290 M 10847 1 0 "" nsv476165 1 5051613 5051613 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012866 M 9 1 0 "" NA12878 esv2483299 1 5053352 5054468 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5225073 M 1 0 1 "" NA18507 nsv4035367 1 5055822 5056273 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851504 M 10847 0 1 "" esv3585082 1 5063288 5063889 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845182,essv9845181,essv9845172,essv9845175,essv9845180,essv9845174,essv9845173,essv9845176,essv9845179,essv9845178,essv9845177,essv9845183,essv9845188,essv9845187,essv9845184,essv9845186,essv9845185,essv9845191,essv9845190,essv9845189,essv9845192,essv9845193 M 2504 0 22 "" HG02652,HG02654,HG02737,HG02787,HG03490,HG03600,HG03703,HG03744,HG03817,HG03864,HG03873,HG03886,HG03925,HG03985,HG04059,HG04141,HG04200,NA20863,NA20877,NA20911,NA21112,NA21124 nsv525603 1 5068210 5068955 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701747 M 2026 0 1 "" nsv4461950 1 5075298 5075299 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022854 M 10847 1 0 "" nsv4036230 1 5083061 5094668 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851513 M 10847 0 1 "" nsv4534727 1 5090034 5090035 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024589 M 10847 1 0 "" nsv3324712 1 5090035 5090035 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14484293 M 14 1 0 "" HG02818 esv3386646 1 5090040 5090095 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898483 M 185 1 0 "" NA19093 esv3306851 1 5090052 5090053 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7749686 M 185 1 0 "" NA19093 nsv4045287 1 5090201 5172131 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851746 M 10847 0 1 "" nsv4048110 1 5095998 5096128 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964139 M 10847 1 0 "" dgv63n54 1 5104037 5170712 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545161,nsv545165,nsv545166 M 17421 4 0 "" nsv4040119 1 5106587 5174789 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963738 M 10847 1 0 "" nsv1001381 1 5112057 5174005 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472304,nssv3480432,nssv3696762,nssv3479297,nssv3468116,nssv3465441 M 29084 0 6 "" nsv4050291 1 5112426 5112518 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851757 M 10847 0 1 "" nsv523740 1 5113911 5170712 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv699556 M 2026 1 0 "" dgv64n54 1 5113911 5173804 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545163,nsv545162,nsv545167,nsv545164 M 17421 0 7 "" HGDP00529 nsv460839 1 5113911 5173804 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537339 M 1557 0 1 "" HGDP00529 esv3893989 1 5114102 5170712 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25781868,essv25786461 M 3017 0 2 "" esv32797 1 5127270 5168845 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv101012 M 51 0 1 "" 21693 nsv4041826 1 5128054 5131913 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851767 M 10847 0 1 "" nsv4050098 1 5135748 5135805 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963748 M 10847 1 0 "" esv1109223 1 5135781 5135781 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4201133 M 2 1 0 "" HuRef nsv3324418 1 5135792 5135792 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487421,nssv14478450,nssv14490513,nssv14489245 M 14 4 0 "" HG02106,HG02818,NA12878,NA19240 nsv4048803 1 5140000 5147000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963759 M 10847 1 0 "" nsv3324419 1 5143128 5143204 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483942 M 14 0 1 "" HG01352 nsv4461793 1 5147444 5147445 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024599 M 10847 1 0 "" nsv520723 1 5151245 5164424 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv697576 M 2026 1 0 "" nsv4043929 1 5151944 5156922 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851778 M 10847 0 1 "" nsv4537937 1 5155909 5155910 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024609 M 10847 1 0 "" nsv4563762 1 5160806 5160807 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024619 M 10847 1 0 "" esv2675761 1 5163634 5165134 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6419459 M 1151 0 1 "" HG00692 esv3585084 1 5163652 5165101 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845195 M 2504 0 1 "" HG00692 esv3585085 1 5165240 5166206 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845215,essv9845197,essv9845214,essv9845196,essv9845199,essv9845204,essv9845213,essv9845198,essv9845203,essv9845200,essv9845202,essv9845201,essv9845207,essv9845212,essv9845206,essv9845205,essv9845208,essv9845211,essv9845210,essv9845209,essv9845220,essv9845217,essv9845216,essv9845219,essv9845218,essv9845221,essv9845223,essv9845222,essv9845224,essv9845225 M 2504 0 30 "" HG01241,HG01985,HG02317,HG02462,HG02477,HG02573,HG02756,HG02759,HG02808,HG02946,HG03109,HG03129,HG03136,HG03168,HG03224,HG03265,HG03295,HG03367,HG03401,HG03547,NA18923,NA19098,NA19114,NA19117,NA19143,NA19235,NA19238,NA19257,NA19378,NA20340 nsv4048133 1 5165243 5166199 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963768 M 10847 1 0 "" nsv4039256 1 5168000 5174000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963779 M 10847 1 0 "" nsv4041574 1 5168319 5171314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851797 M 10847 0 1 "" esv2532762 1 5172047 5172764 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5197882 M 1 1 0 "" NA18507 esv2657993 1 5172334 5173571 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5720924,essv6291611 M 1151 0 2 "" HG00611,HG00654 esv3585086 1 5172414 5173475 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845229,essv9845228,essv9845227,essv9845226,essv9845231,essv9845236,essv9845230,essv9845235,essv9845232,essv9845234,essv9845233,essv9845239,essv9845238,essv9845237,essv9845240,essv9845243,essv9845242,essv9845241 M 2504 0 18 "" HG00533,HG00596,HG00611,HG00654,HG00698,HG01597,HG01794,HG01850,HG02035,HG02373,HG02379,HG02384,HG02408,NA18618,NA18625,NA18639,NA18975,NA18997 nsv3324718 1 5172486 5172486 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488790,nssv14482727,nssv14487617,nssv14479390,nssv14486344,nssv14491711,nssv14476236,nssv14489094,nssv14474869,nssv14487923,nssv14482541,nssv14475145,nssv14479327 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240 esv1289856 1 5172490 5172490 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3630167 M 2 1 0 "" HuRef nsv3323982 1 5172575 5172575 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476814 M 14 1 0 "" NA19434 esv3585087 1 5173809 5179107 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845246,essv9845245,essv9845244,essv9845247 M 2504 0 4 "" HG00593,NA18635,NA18989,NA19011 nsv4461796 1 5177593 5177594 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024629 M 10847 1 0 "" esv2464561 1 5180854 5180930 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5250667 M 1 0 1 "" NA18507 nsv4052411 1 5180970 5181095 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964539 M 10847 1 0 "" nsv4517990 1 5183583 5183661 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851830 M 10847 0 1 "" nsv4533970 1 5188066 5188067 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024637 M 10847 1 0 "" esv27138 1 5196671 5197414 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13523 M 40 0 1 "" NA19240 nsv4517985 1 5201316 5201372 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964548 M 10847 1 0 "" nsv4033593 1 5216600 5216672 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851839 M 10847 0 1 "" esv2465114 1 5220151 5220896 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5290540 M 1 1 0 "" NA18507 nsv1110992 1 5220219 5220290 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961421 M 2 1 0 "" KWS1 esv2918 1 5220261 5220607 CNV loss Wang_et_al_2008 18987735 Sequencing essv25359 M 1 0 1 "" YH nsv3323983 1 5220334 5220334 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472130,nssv14490827,nssv14485030,nssv14488978,nssv14473066,nssv14489077,nssv14491874,nssv14473332,nssv14487442,nssv14482928,nssv14484676,nssv14489858,nssv14485479,nssv14481012 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4558579 1 5225257 5225258 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022859 M 10847 1 0 "" nsv4049804 1 5233407 5234339 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851850 M 10847 0 1 "" esv3585088 1 5238714 5239827 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845248 M 2504 0 1 "" HG02087 nsv4045726 1 5238829 5239868 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853945 M 10847 0 1 "" nsv4035859 1 5270215 5270280 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853956 M 10847 0 1 "" nsv1120186 1 5274584 5274851 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960949 M 2 1 0 "" KWS1 nsv3323988 1 5274669 5274669 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482954 M 14 1 0 "" NA19240 nsv999560 1 5278606 5326471 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3462759 M 29084 1 0 "" nsv4034197 1 5282134 5284090 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964559 M 10847 1 0 "" nsv521242 1 5283942 5287108 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697864 M 2026 0 1 "" nsv545168 1 5284023 5305364 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708948 M 17421 0 1 "" nsv1144343 1 5285293 5285363 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995090 M 2 0 1 "" KWS1 nsv3323989 1 5285295 5285383 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473590 M 14 0 1 "" HG00514 esv3678000 1 5285300 5285361 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499403 M 20 0 1 "" nsv4516620 1 5287849 5288410 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853965 M 10847 0 1 "" esv2758917 1 5289767 5536678 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757720 M 270 1 0 "" NA19003 nsv4461963 1 5290231 5290232 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022869 M 10847 1 0 "" esv3585089 1 5302073 5304597 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845252,essv9845251,essv9845250,essv9845249,essv9845255,essv9845260,essv9845254,essv9845253,essv9845256,essv9845259,essv9845258,essv9845257 M 2504 0 12 "" HG03115,HG03135,HG03193,HG03212,HG03464,HG03470,NA18912,NA19020,NA19152,NA19452,NA19457,NA19461 esv2656583 1 5302112 5304560 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5642149,essv5836252 M 1151 0 2 "" NA19452,NA19461 nsv4036316 1 5302114 5304560 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853972 M 10847 0 1 "" nsv4048946 1 5304767 5309710 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851524 M 10847 0 1 "" esv1963263 1 5306024 5306450 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4703012 M 1 0 1 "" NA18507 nsv3323990 1 5306202 5306253 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485530,nssv14472162,nssv14473978,nssv14473211,nssv14484146,nssv14489948,nssv14489980,nssv14482821 M 14 0 8 "" HG00514,HG00733,HG01352,HG02059,HG02818,HG04217,HX1,NA12878 nsv3323991 1 5306673 5306742 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477079,nssv14481941,nssv14474235,nssv14485580,nssv14474167,nssv14490986,nssv14476855,nssv14490539 M 14 0 8 "" CHM13,HG00268,HG00733,HG02059,HG02106,HG04217,HX1,NA19240 esv3566092 1 5306681 5306751 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764839 M 767 0 1 "" nsv1137720 1 5306681 5306751 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990225 M 2 0 1 "" KWS2 nsv3323992 1 5306733 5306733 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475749 M 14 1 0 "" HG02818 esv3678032 1 5306750 5306823 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499432 M 20 0 1 "" nsv4037265 1 5315111 5316017 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851535 M 10847 0 1 "" nsv4042574 1 5320843 5321015 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851544 M 10847 0 1 "" nsv460950 1 5330757 5348270 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537425 M 1557 0 1 "" HGDP00998 nsv545169 1 5330757 5348270 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173649 M 17421 0 1 "" HGDP00998 nsv4032920 1 5340014 5340737 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851551 M 10847 0 1 "" nsv4035435 1 5344973 5345075 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852121 M 10847 0 1 "" nsv4516720 1 5347900 5347968 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964569 M 10847 1 0 "" nsv4533616 1 5347912 5347913 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022879 M 10847 1 0 "" nsv4533155 1 5347968 5347969 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022889 M 10847 1 0 "" nsv1113065 1 5349996 5350180 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990226,nssv3995091 M 2 0 2 "" KWS1,KWS2 esv3678060 1 5350108 5350182 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499458 M 20 0 1 "" esv2671665 1 5350910 5351276 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6509635,essv5779798,essv6246074,essv5659484,essv6296706,essv5440076,essv6540368,essv5856400,essv6492274,essv5996842,essv6328526,essv5800925,essv6052126 M 1151 0 13 "" HG00160,HG00278,HG00280,HG00375,HG00731,HG01551,NA12155,NA12282,NA12892,NA19663,NA19703,NA19749,NA20507 nsv1144344 1 5350910 5351276 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995092 M 2 0 1 "" KWS1 esv3566314 1 5350910 5351287 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765061 M 767 0 1 "" nsv3325106 1 5350912 5351277 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481027 M 14 0 1 "" HG00733 nsv4043073 1 5350913 5351324 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852129 M 10847 0 1 "" esv3649362 1 5351036 5351036 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473629 M 20 1 0 "" esv3585090 1 5359262 5362142 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845261,essv9845263,essv9845262,essv9845268,essv9845264,essv9845267,essv9845266,essv9845265,essv9845271,essv9845270,essv9845269,essv9845272,essv9845274,essv9845273 M 2504 0 14 "" HG00638,HG01247,HG02477,HG02621,HG02628,HG02947,HG03027,HG03081,HG03130,HG03172,NA18856,NA19319,NA19451,NA19472 esv2663969 1 5359279 5362135 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5451969,essv5861421,essv5404073,essv6181377,essv5526874 M 1151 0 5 "" HG00638,NA18856,NA19319,NA19451,NA19472 nsv4048861 1 5359281 5362135 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852138 M 10847 0 1 "" esv2675805 1 5364059 5364212 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6396847,essv6038176,essv6402807,essv5932932,essv6276849,essv6135067,essv6431643,essv6021653,essv6459561,essv5395854,essv6328751,essv5454067,essv6515529,essv5950071,essv6289486,essv5691159,essv6352895,essv5535297,essv6364649,essv5628770,essv6368144,essv5891462,essv6209727,essv5920700,essv6374400,essv6078532,essv6312434,essv5856831,essv5400386,essv5487076,essv6015776,essv5510135,essv5716908,essv6017677,essv5866775,essv5437083,essv6010416,essv5631414,essv6097545,essv5416167,essv5723271,essv5904658,essv5564616,essv6003274,essv5745198,essv5488147,essv5668653,essv5495326,essv5620206,essv5816756,essv6108303,essv5640185,essv6048366,essv6100647 M 1151 0 54 "" HG00111,HG00137,HG00139,HG00140,HG00252,HG00253,HG00271,HG00275,HG00281,HG00282,HG00310,HG00313,HG00320,HG00321,HG00330,HG00337,HG00338,HG00339,HG00437,HG00442,HG00473,HG00475,HG00476,HG00500,HG00513,HG00543,HG00556,HG00584,HG00590,HG00619,HG00650,HG00692,HG00698,HG00699,HG00701,HG00705,HG01070,HG01075,HG01083,HG01173,HG01174,HG01334,NA18530,NA18557,NA18559,NA18611,NA18612,NA18613,NA18620,NA18622,NA18632,NA18636,NA19404,NA19920 nsv3324423 1 5364060 5364161 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474764,nssv14479816,nssv14474634,nssv14489368,nssv14476298,nssv14479396,nssv14484193,nssv14490082 M 14 0 8 "" CHM1,CHM13,HG00514,HG02059,HG04217,HX1,NA19240,NA19434 esv3678136 1 5364095 5364249 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499526 M 20 0 1 "" nsv1137197 1 5364120 5364175 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975891 M 2 0 1 "" KWS1 nsv4039257 1 5370330 5376776 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964580 M 10847 1 0 "" nsv3324724 1 5375462 5375462 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487346 M 14 1 0 "" HG02106 nsv3325111 1 5375479 5375601 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484565 M 14 0 1 "" HG02106 nsv4035648 1 5375758 5376605 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852148 M 10847 0 1 "" nsv1003726 1 5383308 5425109 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466555 M 29084 1 0 "" nsv481312 1 5383950 5383950 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012002 M 9 0 0 "" nsv473792 1 5383951 5383951 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012563 M 9 1 0 "" NA12156 nsv480602 1 5385217 5385217 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017310 M 9 0 0 "" nsv474984 1 5386033 5386033 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018294 M 9 1 0 "" NA18956 nsv4046166 1 5387000 5394000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852158 M 10847 0 1 "" nsv477558 1 5387318 5387318 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012506 M 9 1 0 "" NA18517 nsv481266 1 5387853 5387853 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012335 M 9 0 0 "" nsv479925 1 5390868 5390868 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014061 M 9 0 0 "" nsv473968 1 5391044 5391044 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015924 M 9 1 0 "" NA12156 nsv4533798 1 5393422 5393423 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022898 M 10847 1 0 "" nsv3324427 1 5393423 5393423 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490872 M 14 1 0 "" HG01352 nsv10605 1 5393590 5395013 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24593,nssv28532,nssv29260,nssv21430 M 31 4 0 "" NA07029,NA07048,NA12802,NA18504 nsv3325115 1 5394182 5394331 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484458 M 14 0 1 "" HG01352 esv3678173 1 5394264 5394805 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499560 M 20 0 1 "" nsv479465 1 5394474 5394474 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020534 M 9 0 0 "" nsv4037137 1 5396531 5397465 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852167 M 10847 0 1 "" nsv479520 1 5396840 5396840 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013929 M 9 0 0 "" nsv474387 1 5396914 5396914 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015116 M 9 1 0 "" NA18956 nsv480617 1 5397440 5397440 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011387 M 9 0 0 "" nsv474375 1 5397714 5397714 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016753 M 9 1 0 "" NA18956 nsv479836 1 5399048 5399048 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019925 M 9 0 0 "" nsv472280 1 5400958 5400958 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019293 M 9 1 0 "" NA18555 nsv4043934 1 5401577 5428434 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964590 M 10847 1 0 "" nsv481139 1 5402322 5402322 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013782 M 9 0 0 "" nsv479964 1 5403347 5403347 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015499 M 9 0 0 "" esv2677954 1 5403415 5404684 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5814474 M 1151 0 1 "" NA19703 esv3585092 1 5403433 5404651 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845298 M 2504 0 1 "" NA19703 nsv4035063 1 5403495 5404706 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852185 M 10847 0 1 "" nsv480009 1 5403543 5403543 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014433 M 9 0 0 "" esv3585093 1 5406463 5408838 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845299 M 2504 0 1 "" HG02087 esv3585094 1 5409220 5411126 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845300 M 2504 0 1 "" HG02087 nsv4046227 1 5409266 5411123 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852195 M 10847 0 1 "" nsv4050948 1 5409582 5469248 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964599 M 10847 1 0 "" nsv4461965 1 5426614 5426615 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022909 M 10847 1 0 "" nsv1142050 1 5447229 5447439 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960950,nssv3978767 M 2 2 0 "" KWS1,KWS2 nsv3324729 1 5447230 5447230 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479187,nssv14475398,nssv14474404,nssv14479095,nssv14472853,nssv14484446,nssv14485943,nssv14489515,nssv14477949,nssv14487422,nssv14474603,nssv14476903,nssv14474646 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv4052028 1 5447423 5447491 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852205 M 10847 0 1 "" esv3678200 1 5447656 5447836 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499584 M 20 0 1 "" nsv1147016 1 5464945 5465008 CNV deletion John_et_al_2014 26484159 Sequencing nssv3998373 M 1 0 1 "" KWB1 nsv3324430 1 5464962 5464962 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480809,nssv14476819,nssv14491102,nssv14483823,nssv14472060 M 14 5 0 "" CHM1,CHM13,HG00268,HG00514,HG02106 nsv3325120 1 5464962 5465021 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488335 M 14 0 1 "" NA19434 dgv18n166 1 5465026 5465146 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4035368,nsv4036457 M 10847 2 0 "" nsv4461269 1 5465392 5465393 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022920 M 10847 1 0 "" nsv4032953 1 5473808 5473965 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962892 M 10847 1 0 "" nsv4037519 1 5473839 5473934 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852216 M 10847 0 1 "" nsv4042535 1 5473938 5474077 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964142 M 10847 1 0 "" esv2259894 1 5474029 5474457 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4831068 M 1 0 1 "" NA18507 nsv4517558 1 5474050 5474193 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964151 M 10847 1 0 "" nsv160607 1 5474168 5474241 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179185 M 24 "" nsv3324730 1 5474176 5474249 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472146,nssv14479734,nssv14480309,nssv14491135,nssv14488154 M 14 0 5 "" HG00733,HX1,NA12878,NA19240,NA19434 nsv1151652 1 5474191 5474279 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003075 M 1 0 1 "" KWB1 nsv4046108 1 5474193 5474668 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852224 M 10847 0 1 "" nsv1076011 1 5474211 5474287 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762500 M 1 0 1 "" KWP1 esv2988852 1 5474212 5474287 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7258419 M 1 0 1 "" HuRef esv3566536 1 5474212 5474287 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765283 M 767 0 1 "" nsv1144345 1 5474212 5474287 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995093 M 2 0 1 "" KWS1 esv3678238 1 5474212 5474288 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499618 M 20 0 1 "" esv1028089 1 5474230 5474305 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4224996 M 2 0 1 "" HuRef nsv3324731 1 5474271 5474320 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481358 M 14 0 1 "" HG01352 nsv4048029 1 5474519 5474735 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852235 M 10847 0 1 "" nsv10716 1 5475030 5476810 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv26903 M 31 1 0 "" NA19221 nsv479240 1 5485341 5485341 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014489 M 9 0 0 "" nsv472893 1 5485473 5485473 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019845 M 9 1 0 "" NA19129 nsv479719 1 5485623 5485623 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018029 M 9 0 0 "" nsv481014 1 5486179 5486179 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012558 M 9 0 0 "" nsv481354 1 5486533 5486533 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019584 M 9 0 0 "" nsv473687 1 5488909 5488909 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010833 M 9 1 0 "" NA19129 nsv477009 1 5489582 5489582 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019418 M 9 1 0 "" NA12878 nsv545170 1 5489867 5541205 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708949 M 17421 0 1 "" nsv481592 1 5490508 5490508 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012018 M 9 0 0 "" nsv4042226 1 5490605 5540947 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851854 M 10847 0 1 "" nsv4044874 1 5490631 5493199 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851865 M 10847 0 1 "" nsv479588 1 5491671 5491671 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014470 M 9 0 0 "" nsv480794 1 5493337 5493337 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019522 M 9 0 0 "" nsv831092 1 5493368 5643744 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442085 M 95 1 0 MIR4417 nsv481180 1 5493915 5493915 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018352 M 9 0 0 "" nsv473316 1 5496757 5496757 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014447 M 9 1 0 "" NA19129 nsv479984 1 5498241 5498241 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012502 M 9 0 0 "" nsv4044498 1 5498527 5509843 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851875 M 10847 0 1 "" nsv480922 1 5498821 5498821 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020124 M 9 0 0 "" nsv475183 1 5500631 5500631 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018681 M 9 1 0 "" NA19240 nsv473909 1 5500940 5500940 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018625 M 9 1 0 "" NA12156 nsv475512 1 5503844 5503844 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011760 M 9 1 0 "" NA19240 nsv4516731 1 5514717 5514785 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964160 M 10847 1 0 "" nsv4517870 1 5534621 5534688 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851883 M 10847 0 1 "" nsv3324435 1 5534622 5534687 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485288 M 14 0 1 "" NA19240 nsv4039410 1 5545704 5546084 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964731 M 10847 1 0 "" nsv4040902 1 5545707 5546359 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964741 M 10847 1 0 "" esv3649710 1 5550489 5550489 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473942 M 20 1 0 "" nsv1129866 1 5559501 5559625 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965000 M 2 0 1 "" KWS2 nsv1076966 1 5559507 5559722 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771579 M 1 0 1 "" KWP1 nsv1130266 1 5559508 5559722 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3964752,nssv3982404 M 2 0 2 "" KWS1,KWS2 esv2607553 1 5559509 5559610 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5236789 M 1 0 1 "" NA18507 nsv1129455 1 5559590 5559708 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962909 M 2 1 0 "" KWS1 nsv4042629 1 5571811 5571988 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851901 M 10847 0 1 "" nsv4532909 1 5583403 5583404 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022950 M 10847 1 0 "" nsv4048961 1 5584787 5589865 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851911 M 10847 0 1 "" nsv4461820 1 5593444 5593445 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022960 M 10847 1 0 "" nsv4039151 1 5596111 5596188 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964750 M 10847 1 0 "" nsv953925 1 5597801 5607700 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3000303 M 1 1 0 "" BILGI_BIOE nsv478357 1 5605278 5605278 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011835 M 9 1 0 "" NA18507 nsv4461566 1 5608087 5608088 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022970 M 10847 1 0 "" nsv527712 1 5623683 5625566 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704192 M 2026 0 1 MIR4417 dgv2n21 1 5624529 5625566 CNV loss Shaikh_et_al_2009 19592680 SNP array nsv519513,nsv526005 M 2026 0 4 "" nsv4039454 1 5628712 5643582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851918 M 10847 0 1 "" nsv4039474 1 5633415 5768964 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964761 M 10847 1 0 "" esv2669319 1 5633688 5633986 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5587877,essv6463945,essv5603993,essv6410575,essv5560026,essv6498314,essv5607342,essv6208210,essv5483457,essv6429604,essv5399348,essv6452914,essv5400393,essv6305492,essv5889786,essv6036715,essv5636736,essv6334378,essv5478691,essv6506229,essv5608106,essv6346612,essv5453155,essv6476038,essv5826814,essv6355678,essv5928382,essv6149955,essv6173891,essv6234181,essv6496995 M 1151 0 31 "" HG00329,HG00375,HG00501,HG00524,HG01440,NA07051,NA11993,NA12004,NA12044,NA12749,NA12750,NA12813,NA12828,NA18486,NA18523,NA18558,NA18853,NA18916,NA18956,NA18967,NA18972,NA18975,NA19098,NA19171,NA19312,NA19373,NA19374,NA19397,NA19463,NA19625,NA19818 esv3566648 1 5633688 5634013 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765395 M 767 0 1 "" nsv4045227 1 5633690 5633986 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851929 M 10847 0 1 "" nsv4050079 1 5641190 5641919 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852244 M 10847 0 1 "" nsv1076017 1 5641222 5641279 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769895 M 1 0 1 "" KWP1 nsv1133797 1 5641223 5641279 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969367 M 2 0 1 "" KWS2 nsv4034792 1 5644646 5645324 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852495 M 10847 0 1 "" esv2673462 1 5644646 5645443 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6161251,essv6139149,essv6576477 M 1151 0 3 "" NA19380,NA19382,NA19436 esv3585095 1 5644653 5645445 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845306,essv9845305,essv9845304,essv9845303,essv9845302,essv9845301,essv9845311,essv9845310,essv9845307,essv9845309,essv9845308 M 2504 0 11 "" HG01702,HG02628,HG02643,HG02888,HG03352,HG03558,NA19025,NA19137,NA19380,NA19436,NA19984 esv3668094 1 5653348 5653348 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490489 M 20 1 0 "" esv1008325 1 5653349 5653349 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577403 M 3 1 0 "" HuRef nsv3325130 1 5653349 5653349 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475015,nssv14476688,nssv14475396,nssv14484949,nssv14485219,nssv14491800,nssv14479081,nssv14482862 M 14 8 0 "" CHM13,HG00268,HG00733,HG01352,HG02106,HG02818,HX1,NA19434 esv1402936 1 5653350 5653350 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3729262 M 2 1 0 "" HuRef esv3649855 1 5662887 5662887 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474073 M 20 1 0 "" esv2165265 1 5663223 5663590 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4655011 M 1 0 1 "" NA18507 nsv1110126 1 5663300 5664600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959391 M 2 1 0 "" KWS1 esv2622825 1 5663834 5663894 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5341576 M 1 0 1 "" NA18507 nsv1125167 1 5664423 5664511 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3977972 M 2 1 0 "" KWS2 nsv1116584 1 5664450 5664505 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978768 M 2 1 0 "" KWS2 nsv4043377 1 5668121 5671287 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852506 M 10847 0 1 "" esv3585096 1 5668174 5671379 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845312 M 2504 0 1 "" HG03084 nsv4051898 1 5693548 5697836 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852515 M 10847 0 1 "" esv3678360 1 5693553 5693622 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499728 M 20 0 1 "" nsv3325132 1 5693909 5694002 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485057 M 14 0 1 "" HG02818 nsv1153170 1 5693913 5694015 CNV deletion John_et_al_2014 26484159 Sequencing nssv4001087 M 1 0 1 "" KWB1 nsv1112218 1 5693920 5694024 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965915 M 2 0 1 "" KWS2 esv3681538 1 5693957 5694101 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16502589 M 20 0 0 "" nsv4052333 1 5694735 5694874 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964771 M 10847 1 0 "" nsv4032858 1 5695768 5697506 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852524 M 10847 0 1 "" nsv4558337 1 5697314 5697315 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024657 M 10847 1 0 "" nsv4462331 1 5703207 5703208 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024667 M 10847 1 0 "" nsv945752 1 5713706 5718125 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750273,nssv1750232,nssv2572210,nssv1750243,nssv2572200,nssv1750231,nssv1750285,nssv1750229,nssv1750281,nssv1750250,nssv1750313,nssv1750300,nssv1750288,nssv1750298,nssv1750309,nssv1750304,nssv2572211,nssv1750222,nssv1750289,nssv1750227,nssv1750267,nssv1750301,nssv1750257,nssv1750228,nssv1750271,nssv1750245,nssv1750279,nssv1750224,nssv1750255,nssv1750226,nssv2572202,nssv1750225,nssv2572212,nssv1750302,nssv1750265,nssv1750249,nssv1750270,nssv1750306,nssv1750296,nssv1750233,nssv1750253,nssv1750242,nssv1750287,nssv1750237,nssv2572205,nssv1750230,nssv2572213,nssv1750252,nssv1750248,nssv1750307,nssv2572209,nssv1750241,nssv1750293,nssv1750303,nssv1750308,nssv1750235,nssv2572198,nssv1750239,nssv2572207,nssv1750234,nssv1750316,nssv1750238,nssv1750247,nssv1750240,nssv1750312,nssv1750305,nssv1750256,nssv1750299,nssv1750315,nssv1750236,nssv1750282,nssv1750223,nssv2572201,nssv1750291,nssv2572199,nssv1750266,nssv1750297,nssv2572204,nssv1750283,nssv1750251,nssv1750269,nssv2572206,nssv1750278,nssv1750311,nssv1750263,nssv1750261,nssv1750286,nssv1750254,nssv1750276,nssv1750292,nssv1750274,nssv2572197,nssv1750268,nssv1750244,nssv1750294,nssv2572208,nssv1750280,nssv1750246,nssv1750221,nssv1750258,nssv1750310,nssv1750260,nssv1750284,nssv1750275,nssv1750277,nssv1750314,nssv1750317,nssv1750272,nssv1750264,nssv1750290,nssv1750295,nssv1750262,nssv2572203,nssv1750259 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4049486 1 5714125 5717754 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852533 M 10847 0 1 "" esv2736140 1 5715844 5715956 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6906088,essv6675186,essv6707250 M 96 0 3 "" SSM014,SSM032,SSM041 nsv4537061 1 5716096 5716097 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024677 M 10847 1 0 "" esv3368079 1 5717162 5717162 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740929 M 185 1 0 "" NA12878 nsv4043951 1 5719483 5719629 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852553 M 10847 0 1 "" dgv30e59 1 5724665 5737163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3345322,esv3346737,esv3391008,esv3335908,esv3435601,esv3335249 M 185 6 0 "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv3585097 1 5725069 5727357 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845313 M 2504 0 1 "" NA18627 nsv945753 1 5725815 5736612 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750402,nssv2572221,nssv1750346,nssv1750387,nssv1750403,nssv1750354,nssv1750340,nssv1751338,nssv1750333,nssv1750381,nssv1750327,nssv1750392,nssv1750329,nssv2572217,nssv1750349,nssv1750357,nssv1750328,nssv1750345,nssv1750397,nssv1750406,nssv1750401,nssv1750411,nssv1750339,nssv1750371,nssv1750398,nssv1750369,nssv1750325,nssv1750410,nssv1750342,nssv1750408,nssv1750395,nssv2572230,nssv1750323,nssv1750386,nssv1750322,nssv1750352,nssv1750347,nssv1750362,nssv1750334,nssv2572216,nssv1750396,nssv1750378,nssv1750399,nssv2572219,nssv1750404,nssv1750356,nssv1750321,nssv1750405,nssv1750320,nssv2572231,nssv1750338,nssv1750376,nssv1750326,nssv1750380,nssv1750331,nssv1750359,nssv1750336,nssv1750350,nssv1750330,nssv2572222,nssv1750335,nssv1750372,nssv1750337,nssv1750385,nssv1750319,nssv1750364,nssv1750332,nssv1750368,nssv1750324,nssv1751336,nssv1750400,nssv1750353,nssv2572226,nssv1750390,nssv2572215,nssv1750344,nssv1751337,nssv1750393,nssv1750409,nssv2572229,nssv1750382,nssv2572224,nssv2572214,nssv2572227,nssv1750384,nssv1750367,nssv2572223,nssv1750363,nssv1750348,nssv1750394,nssv1750377,nssv1750355,nssv1750374,nssv1750343,nssv1750366,nssv1750383,nssv1750389,nssv1750360,nssv2572220,nssv2572218,nssv1750391,nssv1750370,nssv1750358,nssv1750318,nssv1750407,nssv1750375,nssv1750361,nssv1750388,nssv2572225,nssv1750379,nssv1750341,nssv1750373,nssv1750351,nssv1750365 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1075076 1 5727062 5727132 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771810 M 1 0 1 "" KWP1 nsv1126970 1 5727063 5727132 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985257 M 2 0 1 "" KWS1 dgv25n106 1 5727100 5736100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1141126,nsv1132277 M 2 2 0 "" KWS1,KWS2 esv2674386 1 5727693 5727959 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5832322,essv6384104,essv5504297,essv6384347,essv5786001,essv6221620,essv5850151,essv6565812,essv5665252,essv6294299,essv5790903,essv6148778,essv5692394,essv6301555,essv5898834,essv6310515,essv5574275,essv6326712,essv5927529,essv6213259,essv5613090,essv6566648,essv6122182,essv6190723,essv5489756,essv6356112,essv5418071,essv6509161,essv5932568,essv6129857,essv5411958,essv6212200,essv6108169,essv6060968,essv5667480,essv5738482,essv6020750,essv5935278,essv5571822,essv5972280,essv5549176,essv5768514,essv5499783 M 1151 0 43 "" HG00251,HG00418,HG00422,HG00427,HG00428,HG00437,HG00448,HG00463,HG00500,HG00534,HG00657,HG00684,HG00689,HG00690,HG00698,HG00701,HG00702,HG00705,HG00708,HG01108,NA18519,NA18549,NA18557,NA18592,NA18636,NA18637,NA18917,NA18945,NA18960,NA19225,NA19359,NA19371,NA19374,NA19377,NA19380,NA19382,NA19384,NA19385,NA19463,NA19703,NA20299,NA20317,NA20322 nsv3325410 1 5727697 5727892 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489854 M 14 0 1 "" NA19240 dgv2e201 1 5727728 5728179 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2736251,esv2736473 M 96 0 9 "" SSM026,SSM029,SSM034,SSM075,SSM078,SSM088,SSM089,SSM097,SSM098 esv2736362 1 5727732 5727890 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6816567,essv6859167,essv6972305 M 96 0 3 "" SSM029,SSM078,SSM088 esv3678449 1 5727921 5728054 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499808 M 20 0 1 "" esv2736584 1 5727967 5728353 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6888992 M 96 0 1 "" SSM097 nsv1132825 1 5728101 5728187 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987618 M 2 1 0 "" KWS1 nsv3325411 1 5728114 5728114 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476182 M 14 1 0 "" HG00514 nsv3325134 1 5728179 5728179 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477827 M 14 1 0 "" HG00733 nsv956700 1 5728190 5728347 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000519 M 1 0 1 "" BILGI_BIOE nsv3325412 1 5728231 5728231 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14488306,nssv14476538 M 14 2 0 "" CHM1,NA19434 nsv953926 1 5730001 5736500 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3000315 M 1 1 0 "" BILGI_BIOE nsv1149880 1 5730199 5733400 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998666 M 1 1 0 "" KWB1 nsv1075363 1 5730299 5736100 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768871 M 1 1 0 "" KWP1 nsv1122286 1 5731415 5731479 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969368,nssv3982405 M 2 0 2 "" KWS1,KWS2 nsv1133798 1 5731629 5731701 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985258,nssv3969737 M 2 0 2 "" KWS1,KWS2 esv2474640 1 5731828 5734689 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5304912 M 1 1 0 "" NA18507 nsv1119658 1 5732233 5732301 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982103 M 2 0 1 "" KWS1 dgv26n106 1 5732637 5732688 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1133799,nsv1145314 M 2 0 2 "" KWS1,KWS2 nsv1113066 1 5732840 5732895 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995094,nssv3990227 M 2 0 2 "" KWS1,KWS2 esv3894100 1 5734013 5770265 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25798932 M 3017 0 1 "" nsv1122287 1 5734976 5735034 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969738 M 2 0 1 "" KWS2 esv3585098 1 5738969 5746950 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845314 M 2504 0 1 "" NA18971 nsv1133800 1 5746343 5746441 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969370 M 2 0 1 "" KWS2 nsv545171 1 5753350 5887140 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708950 M 17421 1 0 "" nsv523099 1 5758772 5765353 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698792 M 2026 1 0 "" esv2736695 1 5761484 5761660 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6892304 M 96 0 1 "" SSM098 nsv3325415 1 5761826 5761826 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477683 M 14 1 0 "" HX1 esv2662153 1 5766984 5767216 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6320453,essv5689657,essv6036122 M 1151 0 3 "" NA19372,NA19399,NA20340 nsv4517191 1 5766984 5767216 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852564 M 10847 0 1 "" esv3678508 1 5773583 5773647 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499861 M 20 0 1 "" nsv3325136 1 5773738 5773738 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472886 M 14 1 0 "" HG02818 nsv521706 1 5790498 5790655 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698329 M 2026 1 0 "" esv3678566 1 5793642 5793699 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499913 M 20 0 1 "" nsv4034532 1 5794000 5799000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852573 M 10847 0 1 "" nsv1115332 1 5795700 5799800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976384 M 2 1 0 "" KWS2 esv2736806 1 5796228 5796823 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843732,essv6679146,essv6725837,essv6703847 M 96 0 4 "" SSM011,SSM033,SSM040,SSM046 esv2736917 1 5796331 5796449 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843732 M 96 0 1 "" SSM011 esv2737028 1 5796331 5796639 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843732,essv6725837,essv6703847 M 96 0 3 "" SSM011,SSM040,SSM046 nsv4517312 1 5797101 5798093 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964780 M 10847 1 0 "" nsv4046189 1 5799815 5812484 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852581 M 10847 0 1 "" nsv1005415 1 5802073 5820657 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473594 M 29084 0 1 "" esv2165525 1 5804042 5804503 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4933008 M 1 0 1 "" NA18507 esv2737139 1 5804090 5804332 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6686143,essv6895833 M 96 0 2 "" SSM035,SSM099 nsv3324015 1 5804149 5804248 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474196,nssv14473910,nssv14484101,nssv14480275,nssv14486023,nssv14481368,nssv14481419,nssv14491251,nssv14481455,nssv14474664,nssv14490273,nssv14480211,nssv14474422,nssv14481800 M 14 0 14 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv470688 1 5811124 5913621 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547687,nssv547688 M 443 0 2 "" HGDP00546,HGDP00550 nsv4041725 1 5815582 5815660 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852590 M 10847 0 1 "" nsv4461579 1 5821739 5821740 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024686 M 10847 1 0 "" esv3678593 1 5826781 5826857 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499938 M 20 0 1 "" nsv4039239 1 5827357 5828469 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852599 M 10847 0 1 "" esv3408840 1 5832758 5832777 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863671,essv7863672 M 185 2 0 "" NA12005,NA18871 nsv508723 1 5837275 6032008 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619764,nssv619765,nssv623770 M 4 2 0 MIR4689,NPHP4 NA10860,NA18994 nsv4517092 1 5838366 5842578 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852608 M 10847 0 1 "" nsv4035020 1 5844246 5845569 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852858 M 10847 0 1 "" nsv1113067 1 5855734 5855819 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967958 M 2 0 1 "" KWS2 nsv1120187 1 5855862 5855947 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960951 M 2 1 0 "" KWS1 esv3678628 1 5855881 5855984 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499970 M 20 0 1 "" esv2737251 1 5855952 5856170 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6832584,essv6776920,essv6843870,essv6836177,essv6921698,essv6668917,essv6828989,essv6917408 M 96 0 8 "" SSM017,SSM018,SSM031,SSM067,SSM081,SSM082,SSM083,SSM085 nsv4039179 1 5862562 5866840 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853425 M 10847 0 1 "" esv2444036 1 5862653 5863401 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5245268 M 1 1 0 "" NA18507 esv3668213 1 5862914 5862914 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490596 M 20 1 0 "" nsv3324457 1 5862915 5862915 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481076,nssv14484529,nssv14473560,nssv14476205,nssv14485895,nssv14483514,nssv14488021,nssv14491377,nssv14488169,nssv14472382,nssv14483439,nssv14477607,nssv14475960,nssv14490440 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4461628 1 5865505 5865506 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024697 M 10847 1 0 "" dgv31e59 1 5868165 5870163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3330767,esv3440591,esv3376026 M 185 3 0 "" NA19238,NA19239,NA19240 nsv1153099 1 5868199 5869800 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998132 M 1 1 0 "" KWB1 esv2659247 1 5869340 5869558 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5678721,essv6582137,essv5729154,essv6378969,essv5637654,essv6478707,essv5403979,essv6555572,essv5527474,essv6288594,essv5744973,essv6388559,essv5618174,essv6558526,essv5580177,essv6278486,essv5438361,essv6389765,essv5724237,essv6391005,essv5668045,essv6391420,essv5630584,essv6391714,essv5659979,essv6392803,essv5497528,essv6393188,essv5400301,essv6198412,essv5399605,essv6394450,essv5681547,essv6096512,essv5485167,essv6120847,essv5476553,essv5791740,essv5662477,essv6174141,essv5404710,essv5934675,essv5662055,essv6404529,essv5414371,essv6406075,essv5586732,essv6477225,essv5713476,essv6189773,essv5440563,essv6268734,essv5650758,essv5808919,essv5411190,essv6183284,essv5596387,essv6416691,essv5495816,essv6417879,essv5557873,essv6196076,essv5660082,essv6508257,essv5665492,essv6276782,essv5450047,essv6125751,essv5572813,essv6420906,essv5630462,essv6420973,essv5601497,essv6270096,essv5745359,essv6427748,essv5694052,essv6137619,essv5704918,essv6558821,essv5635226,essv6138525,essv5438706,essv6265953,essv5477693,essv6146613,essv5544803,essv6440560,essv5467941,essv6144564,essv5502312,essv6137882,essv5594926,essv6444493,essv5595470,essv6444738,essv5735340,essv6263918,essv5406603,essv6234994,essv5635426,essv6144072,essv5679057,essv6189820,essv5484342,essv6021408,essv5415067,essv5937573,essv5610805,essv6451164,essv5453731,essv6287356,essv5695467,essv6291960,essv5507567,essv6202614,essv5530077,essv6486815,essv5505041,essv6189034,essv5427209,essv5826381,essv5422692,essv6090069,essv5580254,essv6266718,essv5462412,essv6110710,essv5760897,essv6563797,essv5714010,essv5836217,essv5592554,essv6166775,essv5733018,essv6493709,essv5554352,essv6556647,essv5441847,essv6300778,essv5484012,essv6465745,essv5699105,essv6303300,essv5732112,essv6072796,essv5631474,essv6022244,essv5612808,essv6244996,essv5624910,essv6235548,essv5753693,essv6479997,essv5559934,essv6000861,essv5407382,essv6178429,essv5752258,essv6309709,essv6587858,essv5968327,essv6594372,essv5892249,essv6592924,essv6200594,essv6594867,essv6142082,essv5858332,essv5813827,essv6106470,essv6318232,essv5861818,essv6109050,essv5844994,essv6045833,essv6086130,essv6320485,essv6040793,essv6080301,essv6492365,essv6094353,essv6217808,essv6323533,essv6072153,essv6471952,essv6066661,essv6224977,essv6096805,essv6330278,essv5797925,essv6020011,essv5839935,essv6334106,essv6501693,essv6335616,essv5937931,essv6285635,essv6006918,essv6236574,essv6139291,essv6342193,essv6111972,essv5966889,essv5930468,essv6344090,essv5894682,essv6021243,essv6481508,essv6348497,essv6481719,essv6075485,essv6549217,essv5885870,essv6245044,essv6482724,essv6246524,essv6190114,essv5899676,essv5963404,essv6360109,essv6363014,essv5843991,essv6505625,essv6067888,essv5793845,essv6171323,essv5997187,essv6192872,essv6108729,essv6107151,essv6369064,essv6137578,essv6011891,essv6263762,essv6574311,essv5853215,essv5971857,essv5914664,essv6372706,essv6374721,essv5934148,essv6237537,essv6518158,essv6375852,essv6023402,essv6375911,essv6021599,essv6273426,essv5790012,essv6094768,essv6123735,essv6564734,essv5908603,essv5849894,essv6166486,essv5795745,essv5905111,essv6125527,essv6080470,essv6543831,essv6053442,essv6383400,essv6385332,essv6387750 M 1151 0 265 "" HG00096,HG00114,HG00119,HG00120,HG00125,HG00137,HG00146,HG00149,HG00182,HG00188,HG00189,HG00233,HG00242,HG00244,HG00253,HG00254,HG00256,HG00265,HG00269,HG00271,HG00273,HG00284,HG00306,HG00308,HG00320,HG00327,HG00339,HG00343,HG00369,HG00372,HG00373,HG00418,HG00427,HG00442,HG00448,HG00475,HG00512,HG00524,HG00537,HG00551,HG00557,HG00565,HG00581,HG00608,HG00614,HG00626,HG00629,HG00635,HG00651,HG00657,HG00662,HG00689,HG00690,HG00692,HG00693,HG00701,HG00705,HG00707,HG00731,HG00732,HG00737,HG01048,HG01066,HG01067,HG01072,HG01073,HG01098,HG01101,HG01112,HG01124,HG01148,HG01149,HG01254,HG01334,HG01342,HG01357,HG01375,HG01389,HG01461,HG01465,HG01489,HG01497,NA07048,NA07051,NA07056,NA11830,NA11892,NA11893,NA11994,NA12003,NA12045,NA12046,NA12286,NA12340,NA12347,NA12383,NA12413,NA12546,NA12718,NA12748,NA12750,NA12775,NA12777,NA12778,NA12827,NA12829,NA12842,NA12889,NA18486,NA18487,NA18499,NA18516,NA18534,NA18538,NA18543,NA18544,NA18549,NA18553,NA18557,NA18564,NA18567,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18606,NA18610,NA18614,NA18616,NA18617,NA18620,NA18624,NA18633,NA18635,NA18638,NA18868,NA18940,NA18949,NA18950,NA18960,NA18963,NA18964,NA18982,NA18988,NA18991,NA18999,NA19004,NA19009,NA19010,NA19062,NA19074,NA19075,NA19077,NA19078,NA19079,NA19083,NA19085,NA19088,NA19102,NA19107,NA19130,NA19189,NA19198,NA19256,NA19313,NA19316,NA19319,NA19327,NA19328,NA19331,NA19350,NA19360,NA19373,NA19374,NA19377,NA19379,NA19380,NA19384,NA19394,NA19397,NA19401,NA19431,NA19434,NA19436,NA19438,NA19439,NA19440,NA19443,NA19445,NA19453,NA19455,NA19461,NA19462,NA19466,NA19470,NA19474,NA19657,NA19658,NA19716,NA19719,NA19722,NA19723,NA19749,NA19774,NA19780,NA19786,NA19819,NA19904,NA19920,NA20127,NA20282,NA20296,NA20332,NA20334,NA20344,NA20348,NA20506,NA20514,NA20516,NA20521,NA20533,NA20535,NA20540,NA20544,NA20581,NA20585,NA20757,NA20760,NA20769,NA20770,NA20771,NA20773,NA20774,NA20783,NA20785,NA20787,NA20790,NA20792,NA20795,NA20797,NA20798,NA20800,NA20801,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20814,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828 esv2487333 1 5869360 5869500 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5391968 M 1 0 1 "" NA18507 esv2737362 1 5869423 5869682 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874689,essv6877659 M 96 0 2 "" SSM092,SSM093 esv3678701 1 5873668 5873750 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500035 M 20 0 1 "" esv28776 1 5876593 5878094 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 5876620 5877286 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708951 M 17421 0 1 "" esv2737473 1 5876982 5877388 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6950533,essv6821161,essv6710564,essv6725838,essv6689249,essv6972307,essv6941765 M 96 0 7 "" SSM023,SSM025,SSM029,SSM036,SSM042,SSM046,SSM079 nsv3324458 1 5877090 5877186 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475516,nssv14485512,nssv14487935,nssv14490147,nssv14490302,nssv14489367,nssv14478412 M 14 0 7 "" HG00514,HG01352,HG02059,HG02106,HX1,NA12878,NA19434 nsv3324017 1 5877242 5877242 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491335,nssv14485149,nssv14472089,nssv14488369,nssv14484384,nssv14473781,nssv14485501 M 14 7 0 "" CHM1,CHM13,HG00268,HG00733,HG02818,HG04217,NA19240 nsv1076023 1 5877517 5877591 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764025 M 1 0 1 "" KWP1 nsv1145315 1 5877518 5877591 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982408 M 2 0 1 "" KWS1 esv3668250 1 5889904 5889904 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490629 M 20 1 0 "" nsv3325142 1 5889905 5889905 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477561,nssv14472651,nssv14485596,nssv14476706,nssv14480756,nssv14479681,nssv14481994,nssv14487190,nssv14483836,nssv14484349,nssv14489863,nssv14487259,nssv14488257,nssv14484730 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv831203 1 5890090 6027962 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442096,nssv1442107,nssv1442118 M 95 0 3 MIR4689,NPHP4 esv2494780 1 5892204 5892639 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5176671 M 1 1 0 "" NA18507 nsv4041404 1 5892315 5892376 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964620 M 10847 1 0 "" nsv512712 1 5892315 5892438 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625336 M 1 1 0 "" 1 nsv3324459 1 5892328 5892328 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472254,nssv14482414,nssv14487386,nssv14478619,nssv14475805 M 14 5 0 "" CHM1,HG01352,HG02818,NA19240,NA19434 nsv3325143 1 5892363 5892363 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491000,nssv14480240,nssv14472363,nssv14486673,nssv14476377,nssv14481211,nssv14476982,nssv14475755,nssv14489471,nssv14487389,nssv14473477,nssv14472807,nssv14490032,nssv14488997 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1660216 1 5892367 5892367 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4159802 M 2 1 0 "" HuRef nsv545173 1 5893451 6085353 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708952 M 17421 1 0 KCNAB2,MIR4689,NPHP4 nsv4035584 1 5898541 5903975 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853431 M 10847 0 1 "" esv2764259 1 5898729 5903958 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004917,essv7004918 M 1109 0 2 "" RW_0235,RW_0272 nsv545174 1 5904718 6031944 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708953 M 17421 0 1 MIR4689,NPHP4 nsv4038274 1 5904954 5909112 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853450 M 10847 0 1 "" nsv518390 1 5906337 5913621 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv695820 M 2026 1 0 "" nsv945754 1 5909049 5910925 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751423,nssv1751364,nssv1751360,nssv1751375,nssv1751424,nssv1751427,nssv1751367,nssv1751390,nssv1751344,nssv1751408,nssv1751370,nssv1751385,nssv1751361,nssv1751395,nssv1751345,nssv1751404,nssv1751417,nssv1751415,nssv1751368,nssv1751372,nssv1751419,nssv1751380,nssv1751348,nssv1751410,nssv1751422,nssv1751398,nssv1751352,nssv1751365,nssv1751342,nssv1751362,nssv1751416,nssv1751401,nssv1751363,nssv1751384,nssv1751420,nssv1751387,nssv1751340,nssv1751377,nssv1751355,nssv1751400,nssv1751354,nssv1751413,nssv1751353,nssv1751373,nssv1751346,nssv1751339,nssv1751343,nssv1751388,nssv1751349,nssv1751405,nssv1751421,nssv1751432,nssv1751347,nssv1751433,nssv1751341,nssv1751409,nssv1751425,nssv1751379,nssv1751357,nssv1751392,nssv1751356,nssv1751383,nssv1751418,nssv1751431,nssv1751351,nssv1751381,nssv1751350,nssv1751393,nssv1751359,nssv1751386,nssv1751358,nssv1751406,nssv1751397,nssv1751366,nssv1751402,nssv1751435,nssv1751369,nssv1751382,nssv1751414,nssv1751426,nssv1751412,nssv1751407,nssv1751378,nssv1751428,nssv1751396,nssv1751391,nssv1751376,nssv1751411,nssv1751374,nssv1751429,nssv1751399,nssv1751430,nssv1751371,nssv1751394,nssv1751403,nssv1751434,nssv1751389 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2737584 1 5925252 5925705 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6821162,essv6843743,essv6721990,essv6828990 M 96 0 4 NPHP4 SSM011,SSM045,SSM079,SSM081 nsv4049348 1 5925255 5925723 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964624 M 10847 1 0 NPHP4 esv2737695 1 5925381 5925493 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843743 M 96 0 1 NPHP4 SSM011 nsv4050073 1 5925528 5925625 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853460 M 10847 0 1 NPHP4 nsv4033146 1 5928368 5928694 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853470 M 10847 0 1 NPHP4 esv2737806 1 5928847 5929509 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6937658,essv6669099 M 96 0 2 NPHP4 SSM005,SSM022 esv3663107 1 5929125 5929251 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16463528 M 20 0 0 NPHP4 nsv825586 1 5933761 5934633 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423942 M 31 0 1 NPHP4 NA18582 esv3303661 1 5934286 5934287 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7787396,essv7835328,essv7797541,essv7806879,essv7803116,essv7804333,essv7776436,essv7816951,essv7811898,essv7833753,essv7819420,essv7821646,essv7804836,essv7779858,essv7795754,essv7771311,essv7802590,essv7812609,essv7777643,essv7791894,essv7800312,essv7789668,essv7772554,essv7770850,essv7783838,essv7790170,essv7790786,essv7800612,essv7824790,essv7812099,essv7835194,essv7816412,essv7816202,essv7805383,essv7779695,essv7815947,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 nsv4537417 1 5934288 5934289 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024707 M 10847 1 0 NPHP4 nsv3324023 1 5934289 5934289 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14475607,nssv14480451,nssv14481269 M 14 3 0 NPHP4 CHM13,NA12878,NA19434 esv3310166 1 5934290 5934291 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 5934293 5934303 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898487,essv8898500,essv8898505,essv8898512,essv8898499,essv8898513,essv8898491,essv8898508,essv8898489,essv8898490,essv8898519,essv8898498,essv8898494,essv8898515,essv8898495,essv8898518,essv8898511,essv8898510,essv8898516,essv8898488,essv8898506,essv8898504,essv8898493,essv8898507,essv8898496,essv8898485,essv8898497,essv8898509,essv8898486,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 5934298 5934304 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 esv3650556 1 5934301 5934301 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474703 M 20 1 0 NPHP4 nsv4046388 1 5939851 5939909 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853475 M 10847 0 1 NPHP4 esv2737917 1 5944485 5944703 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6902515,essv6946477,essv6950534,essv6692746,essv6776922,essv6839956,essv6910022,essv6679147,essv6718151,essv6846990,essv6853210,essv6892305,essv6913982,essv6871702,essv6766527,essv6668918,essv6789130 M 96 0 17 NPHP4 SSM013,SSM015,SSM016,SSM024,SSM025,SSM031,SSM033,SSM037,SSM044,SSM064,SSM067,SSM070,SSM084,SSM086,SSM087,SSM091,SSM098 esv3678820 1 5944692 5945123 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500142 M 20 0 1 NPHP4 nsv4044696 1 5947024 5947076 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853483 M 10847 0 1 NPHP4 esv2763437 1 5948677 6018391 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7030745 M 1109 0 1 NPHP4 SW_1304 nsv831314 1 5949469 6123057 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442129,nssv1442162,nssv1442140,nssv1442151 M 95 0 4 KCNAB2,NPHP4 nsv1008071 1 5952243 6144538 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696763 M 29084 0 1 KCNAB2,NPHP4 nsv743 1 5962129 6007387 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9178 M 9 0 1 NPHP4 NA12156 nsv4461594 1 5988125 5988126 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025278 M 10847 1 0 NPHP4 nsv4045950 1 5988676 5991643 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853492 M 10847 0 1 NPHP4 nsv4047053 1 5995970 5996180 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853503 M 10847 0 1 NPHP4 nsv4047653 1 5996000 6002000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853511 M 10847 0 1 NPHP4 nsv4044324 1 5999501 5999608 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964632 M 10847 1 0 NPHP4 esv3650692 1 6002647 6002647 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474826 M 20 1 0 NPHP4 nsv4048973 1 6003482 6004578 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853522 M 10847 0 1 NPHP4 nsv545175 1 6007446 6053630 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708954 M 17421 0 1 KCNAB2,NPHP4 nsv4044530 1 6008066 6028437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853530 M 10847 0 1 NPHP4 nsv4040560 1 6013412 6013523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853538 M 10847 0 1 NPHP4 nsv4040038 1 6019563 6019640 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853548 M 10847 0 1 NPHP4 esv3585100 1 6031428 6041299 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845876,essv9845873,essv9845875,essv9845874 M 2504 0 4 NPHP4 HG00182,HG00306,HG02545,HG02577 nsv4050608 1 6031483 6041274 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852263 M 10847 0 1 NPHP4 nsv4048890 1 6031800 6031904 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852271 M 10847 0 1 NPHP4 dgv9e212 1 6035053 6044155 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577712,esv3577711 M 873 0 19 NPHP4 400106PC,400368SD,400547BS,400620MT,400926LJ,400948EV,400949AM,401259LS,401295HB,401318AV,401354KM,401623SN,401630MK,401646MC,401661HD,401734PG,401899MB,401935TM,401975VD nsv4049941 1 6035504 6048655 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852279 M 10847 0 1 NPHP4 nsv506919 1 6035606 6041606 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623262 M 4 0 0 NPHP4 NA18994 esv3395207 1 6037353 6038029 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652093 M 185 1 0 NPHP4 NA19240 esv33437 1 6037569 6038037 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv97100,essv95744,essv94307,essv94480,essv93021,essv92840,essv97813,essv101040,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 6037913 6038098 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808973 M 185 1 0 NPHP4 NA12878 nsv3325149 1 6037967 6037967 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473561,nssv14474037,nssv14485914,nssv14491861,nssv14474391,nssv14479045,nssv14475354,nssv14491657,nssv14478238,nssv14477948,nssv14490265 M 14 11 0 NPHP4 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240,NA19434 nsv4036129 1 6038089 6054530 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964648 M 10847 1 0 KCNAB2,NPHP4 nsv4039609 1 6038362 6038425 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852289 M 10847 0 1 NPHP4 nsv520207 1 6042934 6046264 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697281 M 2026 0 1 NPHP4 nsv4034942 1 6043000 6072000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964656 M 10847 1 0 KCNAB2,NPHP4 nsv4572905 1 6051033 6051034 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025289 M 10847 1 0 NPHP4 nsv953994 1 6053001 6121400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001623 M 1 0 1 KCNAB2 BILGI_BIOE nsv1008999 1 6056168 6154729 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482459 M 29084 1 0 KCNAB2 nsv4037555 1 6060010 6060181 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852614 M 10847 0 1 KCNAB2 nsv4043651 1 6060034 6060100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852623 M 10847 0 1 KCNAB2 esv2470104 1 6064711 6066988 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5382298 M 1 0 1 KCNAB2 NA18507 esv22772 1 6064750 6066933 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 esv2738028 1 6064778 6065911 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6906089,essv6821163,essv6846991,essv6843871,essv6686144,essv6853211,essv6816568,essv6954715,essv6721991,essv6863937,essv6972308,essv6898594,essv6668919,essv6733470,essv6941766,essv6961533,essv6789131,essv6738796 M 96 0 18 KCNAB2 SSM014,SSM023,SSM026,SSM027,SSM029,SSM031,SSM035,SSM045,SSM049,SSM052,SSM070,SSM078,SSM079,SSM085,SSM086,SSM087,SSM089,SSM100 nsv4041607 1 6064986 6065439 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964665 M 10847 1 0 KCNAB2 nsv3325151 1 6064998 6064998 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478352 M 14 1 0 KCNAB2 NA12878 nsv3325152 1 6065016 6065094 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472994 M 14 0 1 KCNAB2 HG02818 esv3567536 1 6065094 6065428 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9766283 M 767 0 1 KCNAB2 dgv65n54 1 6065112 6065814 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545178,nsv545176,nsv545177 M 17421 0 4 KCNAB2 dgv66n54 1 6065112 6066099 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545191,nsv545179,nsv545180 M 17421 3 0 KCNAB2 dgv67n54 1 6065112 6066252 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545181,nsv545182,nsv545183,nsv545193,nsv545192 M 17421 0 6 KCNAB2 nsv545186 1 6065112 6066620 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708970,nssv708971 M 17421 1 1 KCNAB2 dgv68n54 1 6065112 6066636 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545194,nsv545204,nsv545184,nsv545187,nsv545188,nsv545195,nsv545185 M 17421 19 0 KCNAB2 nsv3325153 1 6065131 6065249 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478572 M 14 0 1 KCNAB2 HG01352 nsv3324030 1 6065131 6065408 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476383,nssv14484759 M 14 0 2 KCNAB2 CHM1,HG00514 nsv3325154 1 6065175 6065175 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488613 M 14 1 0 KCNAB2 HG02818 nsv3325155 1 6065240 6065240 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475466 M 14 1 0 KCNAB2 HG02818 esv3686093 1 6065256 6065496 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16464027 M 20 0 0 KCNAB2 dgv69n54 1 6065272 6065872 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545190,nsv545189 M 17421 2 0 KCNAB2 nsv545196 1 6065272 6067640 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708989,nssv708990 M 17421 0 2 KCNAB2 nsv3325432 1 6065293 6065450 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488897,nssv14481377,nssv14477370,nssv14482184,nssv14485965,nssv14490809,nssv14484184 M 14 0 7 KCNAB2 HG00268,HG00514,HG00733,HG02059,HX1,NA12878,NA19434 nsv159264 1 6065293 6065490 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177842 M 24 KCNAB2 dgv70n54 1 6065323 6066636 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545202,nsv545203,nsv545201,nsv545197 M 17421 0 5 KCNAB2 nsv3324031 1 6065369 6065369 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488623,nssv14481042 M 14 2 0 KCNAB2 CHM13,HG02818 nsv3324467 1 6065405 6065405 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472262 M 14 1 0 KCNAB2 NA19240 nsv3325156 1 6065411 6065489 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475843,nssv14478749 M 14 0 2 KCNAB2 HG01352,HG02818 nsv545199 1 6065426 6066047 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708993 M 17421 0 1 KCNAB2 dgv71n54 1 6065426 6066099 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545200,nsv545198 M 17421 2 0 KCNAB2 nsv3325433 1 6065435 6065435 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490767,nssv14475736 M 14 2 0 KCNAB2 CHM13,HG02818 nsv3325434 1 6065493 6065493 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488438,nssv14477409,nssv14475691 M 14 3 0 KCNAB2 CHM1,CHM13,HG00514 nsv545205 1 6065639 6066303 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709001 M 17421 1 0 KCNAB2 dgv72n54 1 6065639 6066636 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545207,nsv545211,nsv545206,nsv545209,nsv545208 M 17421 0 6 KCNAB2 nsv545210 1 6065749 6066636 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709008,nssv709007 M 17421 2 0 KCNAB2 esv7234 1 6065791 6066777 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29675 M 1 0 0 KCNAB2 nsv511675 1 6065857 6066800 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626313 M 1 0 1 KCNAB2 1 esv2738139 1 6065880 6066099 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6718787 M 96 0 1 KCNAB2 SSM007 esv2738250 1 6065929 6066616 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6679148,essv6769505,essv6950073,essv6839957,essv6929045,essv6807360,essv6714226,essv6967912,essv6836178,essv6843872,essv6921699,essv6910023,essv6853212,essv6725839,essv6793267,essv6773422,essv6895834,essv6913984,essv6954716,essv6913983,essv6696980,essv6863938,essv6824966,essv6666885,essv6797433,essv6789133,essv6941767,essv6780849 M 96 0 27 KCNAB2 SSM004,SSM015,SSM016,SSM018,SSM020,SSM023,SSM026,SSM028,SSM030,SSM033,SSM038,SSM043,SSM046,SSM065,SSM066,SSM068,SSM070,SSM071,SSM072,SSM075,SSM080,SSM083,SSM084,SSM085,SSM087,SSM089,SSM099 nsv545212 1 6065930 6066466 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709010 M 17421 0 1 KCNAB2 nsv3324032 1 6065950 6065950 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488766 M 14 1 0 KCNAB2 CHM1 nsv3324468 1 6065950 6066186 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473367 M 14 0 1 KCNAB2 HG02059 nsv3325435 1 6065982 6066060 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484545,nssv14486167 M 14 0 2 KCNAB2 HG00268,HG02818 dgv73n54 1 6065986 6066636 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545213,nsv545215,nsv545216,nsv545220,nsv545214,nsv545221,nsv545219 M 17421 73 40 KCNAB2 nsv545217 1 6065986 6067640 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709089,nssv709090 M 17421 2 0 KCNAB2 dgv74n54 1 6065986 6080378 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545218,nsv545223,nsv545227 M 17421 3 0 KCNAB2 nsv545222 1 6066047 6067640 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709127 M 17421 0 1 KCNAB2 nsv545224 1 6066099 6066620 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709130,nssv709129 M 17421 0 2 KCNAB2 nsv511127 1 6066099 6070870 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626143 M 1 0 1 KCNAB2 1 nsv3325436 1 6066102 6066102 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488725 M 14 1 0 KCNAB2 CHM1 nsv3325157 1 6066134 6066134 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491765 M 14 1 0 KCNAB2 HG00514 nsv4043501 1 6066142 6066665 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964682 M 10847 1 0 KCNAB2 nsv3325437 1 6066148 6066267 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477492,nssv14487549 M 14 0 2 KCNAB2 HG00268,HG02818 nsv545225 1 6066150 6066636 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709132,nssv709131,nssv709134,nssv709133 M 17421 4 0 KCNAB2 nsv3325158 1 6066179 6066376 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491635,nssv14475333 M 14 0 2 KCNAB2 HG02106,NA19240 nsv3325438 1 6066218 6066218 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478240 M 14 1 0 KCNAB2 HG00514 nsv3325159 1 6066222 6066299 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472976,nssv14486164,nssv14480774,nssv14488562 M 14 0 4 KCNAB2 CHM13,HG00733,HX1,NA19434 nsv3325439 1 6066259 6066259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480761 M 14 1 0 KCNAB2 HG00514 nsv545226 1 6066303 6066620 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709138,nssv709137,nssv709135,nssv709136 M 17421 0 4 KCNAB2 nsv3325160 1 6066337 6066416 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478987,nssv14480392 M 14 0 2 KCNAB2 HG00733,HG01352 nsv3324469 1 6066338 6066338 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477611,nssv14474070 M 14 2 0 KCNAB2 CHM1,HG00514 esv3687693 1 6066347 6066650 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16464171 M 20 0 0 KCNAB2 nsv3325440 1 6066416 6066496 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482877 M 14 0 1 KCNAB2 NA19434 nsv3325161 1 6066432 6066432 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478141 M 14 1 0 KCNAB2 CHM1 esv2738362 1 6066454 6066621 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972309 M 96 0 1 KCNAB2 SSM029 nsv545228 1 6066466 6066620 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709140 M 17421 0 1 KCNAB2 nsv3324033 1 6066469 6066690 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490169,nssv14490301,nssv14483684,nssv14489155,nssv14483957,nssv14473822,nssv14478490 M 14 0 7 KCNAB2 CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HX1 nsv3324034 1 6066490 6066490 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481348,nssv14481799 M 14 2 0 KCNAB2 HG00514,NA12878 nsv3324470 1 6066552 6066614 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491043,nssv14485856 M 14 0 2 KCNAB2 HG00733,NA19434 nsv3324471 1 6066561 6066561 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479638,nssv14479877 M 14 2 0 KCNAB2 CHM1,HG00514 nsv4517105 1 6066575 6066638 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964698 M 10847 1 0 KCNAB2 nsv3325443 1 6066599 6066599 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472035 M 14 1 0 KCNAB2 HG00514 nsv3325162 1 6066635 6066635 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485963 M 14 1 0 KCNAB2 HG00514 nsv3325444 1 6066638 6066718 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478876,nssv14486571,nssv14485707 M 14 0 3 KCNAB2 HG00733,HX1,NA19434 nsv3324472 1 6066678 6066797 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487360,nssv14484280 M 14 0 2 KCNAB2 HG02818,NA19434 nsv3324035 1 6066681 6066681 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478529,nssv14484010,nssv14472480 M 14 3 0 KCNAB2 CHM1,HG00514,NA19240 esv2738473 1 6066728 6066907 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6813156 M 96 0 1 KCNAB2 SSM077 nsv3325445 1 6066730 6066730 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474704 M 14 1 0 KCNAB2 HG00514 nsv3324473 1 6066752 6066752 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483255 M 14 1 0 KCNAB2 HG00514 nsv4046473 1 6071787 6097992 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852643 M 10847 0 1 KCNAB2 esv2738584 1 6072125 6072956 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6933292,essv6776923,essv6885973,essv6846992,essv6668920,essv6703848,essv6972310,essv6733471,essv6784978 M 96 0 9 KCNAB2 SSM021,SSM029,SSM031,SSM040,SSM049,SSM067,SSM069,SSM086,SSM096 esv2668412 1 6072194 6072560 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5563282,essv6188297,essv5520884,essv6237773,essv5695092,essv6544636,essv5865050,essv6335002,essv5877569,essv6255474,essv5588220,essv6501198,essv5528295,essv6129318,essv5886683,essv5636685,essv5922487 M 1151 0 17 KCNAB2 HG00284,HG00328,HG00342,HG00437,HG00543,HG01133,HG01357,HG01390,NA18572,NA18924,NA19374,NA19379,NA19391,NA19428,NA19746,NA19786,NA20314 esv2671721 1 6072195 6072792 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6382629,essv5843395,essv6148521,essv5757120,essv6393423,essv5907730,essv6397243,essv5413546,essv6397638,essv5407413,essv6399264,essv5983105,essv6121818,essv5971083,essv6129056,essv5396217,essv6409198,essv6020623,essv6416025,essv5930850,essv6553754,essv5996087,essv6502693,essv5746389,essv6514803,essv5679535,essv6155134,essv5842204,essv6427608,essv5467304,essv6429236,essv5636110,essv6594356,essv5474452,essv6429959,essv5454081,essv6497354,essv5513983,essv6433245,essv5512966,essv6437441,essv5674310,essv6439716,essv5432446,essv6442096,essv5402741,essv6165749,essv5753506,essv6165747,essv5506435,essv6259723,essv5871453,essv6128759,essv5740671,essv6447871,essv5829542,essv6448961,essv5645205,essv6573525,essv5788966,essv6490716,essv5997402,essv6452048,essv5788028,essv6282855,essv5613898,essv6139989,essv5416587,essv6227383,essv5932588,essv6548910,essv5569094,essv6556052,essv5946793,essv6532235,essv5616878,essv6498118,essv5415000,essv6297003,essv5958284,essv6229880,essv5621908,essv6297659,essv5545770,essv6139787,essv5406403,essv6298507,essv5605963,essv6541060,essv5655454,essv6146458,essv5909976,essv6204063,essv5836894,essv6464469,essv6020546,essv6138404,essv5552528,essv6567015,essv5909974,essv6304897,essv5611477,essv6062214,essv5943253,essv6187079,essv5767011,essv6068361,essv5881206,essv6141669,essv5637574,essv6493493,essv5407886,essv6580197,essv5632013,essv6094817,essv6008020,essv6086953,essv5764384,essv6513052,essv5978133,essv6540799,essv5884490,essv6265889,essv5864460,essv6585620,essv5617548,essv6269635,essv5941011,essv6114052,essv6040350,essv6055531,essv5575680,essv6588591,essv5531345,essv6255955,essv5880362,essv6113253,essv5424572,essv6073435,essv5889228,essv6480699,essv5633336,essv6248870,essv5558169,essv6107623,essv5800765,essv6261806,essv5669584,essv6473009,essv5645214,essv6168202,essv5928633,essv6465287,essv5730880,essv6586272,essv5665100,essv6334902,essv5415051,essv6200679,essv5475755,essv6336381,essv5469579,essv6505577,essv5995311,essv6103095,essv5707787,essv6088037,essv5489757,essv6261835,essv5714136,essv6119926,essv5587867,essv6080909,essv5459906,essv6482164,essv5617025,essv6072292,essv5691431,essv6345185,essv5425976,essv6164111,essv5837146,essv6349389,essv5714321,essv6118327,essv5657029,essv6142865,essv5673767,essv6492760,essv5742080,essv6508076,essv5460614,essv6501200,essv5402443,essv6491505,essv5677246,essv6216628,essv5774618,essv6210340,essv5428863,essv6060604,essv5724721,essv6057781,essv5845916,essv6148472,essv5509769,essv6361399,essv5497657,essv6592445,essv5918927,essv6195668,essv5705359,essv6103012,essv5998533,essv6282381,essv5453827,essv6192880,essv5883448,essv6157504,essv5965967,essv6169655,essv5445107,essv6371370,essv5752732,essv6223880,essv5474868,essv6372612,essv5845242,essv6072530,essv6376345,essv6081217,essv6376855,essv6377173,essv6061149,essv6126277,essv6106545,essv6217674,essv6112224,essv6206244,essv6529368,essv6380438,essv6506890,essv6223863,essv6551773 M 1151 0 244 KCNAB2 HG00108,HG00111,HG00123,HG00124,HG00125,HG00131,HG00136,HG00137,HG00138,HG00139,HG00140,HG00142,HG00154,HG00232,HG00236,HG00237,HG00246,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00260,HG00261,HG00271,HG00272,HG00273,HG00274,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00313,HG00315,HG00318,HG00319,HG00320,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00334,HG00335,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00375,HG00418,HG00427,HG00428,HG00436,HG00437,HG00443,HG00449,HG00463,HG00464,HG00473,HG00479,HG00500,HG00501,HG00512,HG00513,HG00525,HG00533,HG00534,HG00537,HG00543,HG00557,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00650,HG00651,HG00654,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00707,HG00708,HG00740,HG01048,HG01051,HG01052,HG01055,HG01060,HG01066,HG01067,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01083,HG01102,HG01108,HG01113,HG01170,HG01171,HG01173,HG01174,HG01188,HG01334,HG01350,HG01351,HG01353,HG01354,HG01359,HG01365,HG01366,HG01377,HG01383,HG01390,HG01437,HG01488,HG01518,NA11831,NA12154,NA12249,NA18530,NA18534,NA18543,NA18549,NA18557,NA18559,NA18602,NA18606,NA18609,NA18613,NA18620,NA18621,NA18623,NA18632,NA18636,NA18638,NA19190,NA19197,NA19223,NA19324,NA19376,NA19379,NA19383,NA19385,NA19394,NA19401,NA19404,NA19428,NA19436,NA19452,NA19457,NA19463,NA19648,NA19651,NA19652,NA19654,NA19655,NA19657,NA19660,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19679,NA19681,NA19682,NA19684,NA19685,NA19712,NA19716,NA19717,NA19719,NA19720,NA19723,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19746,NA19749,NA19750,NA19755,NA19756,NA19758,NA19759,NA19762,NA19770,NA19773,NA19774,NA19776,NA19779,NA19780,NA19782,NA19785,NA19788,NA19789,NA19818,NA19920,NA20126,NA20296,NA20322,NA20356 esv2738695 1 6072233 6072569 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6703848,essv6784978 M 96 0 2 KCNAB2 SSM040,SSM069 esv3678942 1 6072337 6072582 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500252 M 20 0 1 KCNAB2 nsv3325446 1 6072351 6072594 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473328,nssv14480413,nssv14478192,nssv14489273,nssv14484858,nssv14481294,nssv14474884,nssv14483410 M 14 0 8 KCNAB2 CHM1,CHM13,HG00514,HG00733,HG02818,HG04217,NA12878,NA19240 esv2738806 1 6072373 6072632 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6933292,essv6846992,essv6776923,essv6885973,essv6668920,essv6972310 M 96 0 6 KCNAB2 SSM021,SSM029,SSM031,SSM067,SSM086,SSM096 nsv3325447 1 6072545 6072596 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483972 M 14 0 1 KCNAB2 HG04217 nsv4033708 1 6077000 6127000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964706 M 10847 1 0 KCNAB2 dgv27n106 1 6081500 6082800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1132278,nsv1115333 M 2 2 0 KCNAB2 KWS1,KWS2 esv3650978 1 6081866 6081866 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475084 M 20 1 0 KCNAB2 nsv4517835 1 6081898 6082127 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852662 M 10847 0 1 KCNAB2 nsv3325449 1 6081968 6081968 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476801 M 14 1 0 KCNAB2 HG04217 esv2738917 1 6085713 6086177 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6839958,essv6910024,essv6804391 M 96 0 3 KCNAB2 SSM015,SSM074,SSM084 nsv1122288 1 6085900 6085985 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969739 M 2 0 1 KCNAB2 KWS2 nsv3324038 1 6085902 6085952 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486772,nssv14480175 M 14 0 2 KCNAB2 HG02059,HG04217 nsv1126971 1 6090528 6090587 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985259 M 2 0 1 KCNAB2 KWS1 nsv4041535 1 6093369 6094010 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852670 M 10847 0 1 KCNAB2 esv2739028 1 6103291 6103397 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6699586 M 96 0 1 KCNAB2 SSM039 nsv461283 1 6108377 6184092 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537694 M 1557 0 1 CHD5,KCNAB2 HGDP00491 nsv545229 1 6108377 6184092 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173650 M 17421 0 1 CHD5,KCNAB2 HGDP00491 nsv4044867 1 6137798 6137855 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853240 M 10847 0 1 KCNAB2 nsv4038661 1 6138015 6138123 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853249 M 10847 0 1 KCNAB2 dgv75n54 1 6141325 6204266 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545230,nsv545231 M 17421 0 2 CHD5,KCNAB2 nsv470689 1 6149122 6233573 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 6161760 6162540 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1431963 M 31 1 0 CHD5 NA18972 nsv545232 1 6164408 6168422 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709143 M 17421 1 0 CHD5 esv21998 1 6166718 6169303 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17786 M 40 1 0 CHD5 NA06985 dgv76n54 1 6167121 6169030 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545234,nsv545233 M 17421 5 0 CHD5 esv2739139 1 6167296 6167468 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6813157,essv6821164,essv6853213,essv6721992,essv6941768 M 96 0 5 CHD5 SSM023,SSM045,SSM077,SSM079,SSM087 esv2676924 1 6167709 6168580 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5397445 M 1151 0 1 CHD5 HG00476 esv3668378 1 6167756 6167756 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490744 M 20 1 0 CHD5 esv3672577 1 6167813 6167895 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494522 M 20 0 0 CHD5 nsv545235 1 6167909 6169095 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709149 M 17421 0 1 CHD5 nsv4517359 1 6168037 6168836 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853260 M 10847 0 1 CHD5 nsv4051225 1 6178889 6178955 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853269 M 10847 0 1 CHD5 esv3651095 1 6183449 6183449 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475190 M 20 1 0 CHD5 nsv831425 1 6189351 6324478 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 6190215 6212870 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417552 M 112 0 1 CHD5 NA18971 nsv854 1 6191265 6236143 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7151 M 9 0 1 CHD5 NA12156 esv3383496 1 6209065 6210363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692396 M 185 1 0 CHD5 NA19239 nsv1149305 1 6209599 6211000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002812 M 1 1 0 CHD5 KWB1 nsv4518106 1 6209805 6209874 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853277 M 10847 0 1 CHD5 nsv4038279 1 6210040 6210106 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853285 M 10847 0 1 CHD5 esv2739250 1 6214958 6215186 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748154 M 96 0 1 CHD5 SSM008 esv2739361 1 6214972 6215433 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6699588,essv6846993,essv6679149 M 96 0 3 CHD5 SSM033,SSM039,SSM086 esv2739473 1 6219836 6220595 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877660,essv6813158,essv6937659,essv6699589,essv6747762,essv6950535,essv6742123,essv6776924,essv6714227,essv6885974,essv6784465,essv6967913,essv6718798,essv6832585,essv6910025,essv6921700,essv6773423,essv6954717,essv6859169,essv6913986,essv6892306,essv6761844,essv6797434,essv6695565,essv6789134,essv6863939,essv6750583,essv6733472,essv6679150,essv6972311,essv6874690,essv6925674,essv6801607,essv6961534,essv6780850,essv6738797,essv6917409 M 96 0 37 CHD5 SSM006,SSM007,SSM009,SSM015,SSM016,SSM017,SSM018,SSM019,SSM022,SSM025,SSM026,SSM027,SSM028,SSM029,SSM033,SSM039,SSM043,SSM049,SSM052,SSM053,SSM056,SSM057,SSM062,SSM066,SSM067,SSM068,SSM070,SSM072,SSM073,SSM077,SSM082,SSM088,SSM089,SSM092,SSM093,SSM096,SSM098 nsv4517612 1 6220153 6220224 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853297 M 10847 0 1 CHD5 nsv3325456 1 6220159 6220337 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479765,nssv14486047,nssv14474670,nssv14486572 M 14 0 4 CHD5 HG00268,HG02059,HG02818,NA19434 nsv3324045 1 6220192 6220192 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476106 M 14 1 0 CHD5 HX1 esv2739584 1 6220198 6220504 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6950535,essv6813158,essv6937659,essv6699589,essv6776924,essv6967913,essv6714227,essv6885974,essv6859169,essv6718798,essv6832585,essv6877660,essv6910025,essv6892306,essv6773423,essv6913986,essv6761844,essv6954717,essv6797434,essv6695565,essv6874690,essv6972311,essv6863939,essv6789134,essv6750583,essv6925674,essv6961534,essv6780850,essv6801607 M 96 0 29 CHD5 SSM006,SSM007,SSM015,SSM016,SSM019,SSM022,SSM025,SSM026,SSM027,SSM028,SSM029,SSM039,SSM043,SSM057,SSM062,SSM066,SSM067,SSM068,SSM070,SSM072,SSM073,SSM077,SSM082,SSM088,SSM089,SSM092,SSM093,SSM096,SSM098 esv3679216 1 6220240 6220400 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500499 M 20 0 1 CHD5 nsv3325165 1 6220268 6220321 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488672 M 14 0 1 CHD5 NA19240 nsv3325457 1 6220321 6220321 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487249,nssv14478172,nssv14488081,nssv14487127,nssv14475630,nssv14473455 M 14 6 0 CHD5 CHM1,HG00514,HG04217,HX1,NA12878,NA19434 nsv3324046 1 6220350 6220454 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475560,nssv14485990 M 14 0 2 CHD5 HG01352,HG02106 nsv3325458 1 6220353 6220404 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486155 M 14 0 1 CHD5 NA19240 nsv545236 1 6221975 6322936 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709150 M 17421 0 1 CHD5,GPR153,HES3,ICMT,LINC00337,RNF207,RPL22 nsv1148543 1 6234199 6236100 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000580 M 1 1 0 CHD5 KWB1 nsv1115334 1 6234300 6235600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976386 M 2 1 0 CHD5 KWS2 nsv4517511 1 6234754 6234851 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853305 M 10847 0 1 CHD5 nsv1076981 1 6239499 6240300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766151 M 1 0 1 CHD5 KWP1 nsv1143431 1 6239500 6240700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980629 M 2 0 1 CHD5 KWS1 nsv945755 1 6245981 6247890 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750827,nssv1750799,nssv1751438,nssv1751436,nssv1751448,nssv1751468,nssv1750828,nssv1750839,nssv1750820,nssv1751472,nssv1751464,nssv1750800,nssv1750823,nssv1750784,nssv1751458,nssv1751475,nssv1750824,nssv1750793,nssv1751455,nssv1750785,nssv1751449,nssv1751471,nssv1751457,nssv1750816,nssv1751441,nssv1750794,nssv1751460,nssv1750807,nssv1751454,nssv1750804,nssv1751442,nssv1750795,nssv1751467,nssv1750811,nssv1751465,nssv1750791,nssv1750822,nssv1750837,nssv1750826,nssv1750835,nssv1751452,nssv1750786,nssv1750821,nssv1750798,nssv1750825,nssv1750802,nssv1751440,nssv1751462,nssv1751447,nssv1750836,nssv1751451,nssv1751469,nssv1750829,nssv1750812,nssv1751443,nssv1751459,nssv1751450,nssv1750833,nssv1751437,nssv1751461,nssv1751444,nssv1750787,nssv1751453,nssv1750830,nssv1751445,nssv1750796,nssv1751439,nssv1750834,nssv1751446,nssv1750838,nssv1751456,nssv1750788,nssv1750789,nssv1751470,nssv1750803,nssv1750819,nssv1751474,nssv1750815,nssv1750792,nssv1750808,nssv1750814,nssv1751473,nssv1750818,nssv1750809,nssv1750805,nssv1750813,nssv1750790,nssv1750797,nssv1751463,nssv1750806,nssv1750831,nssv1750810,nssv1750801,nssv1750832,nssv1750817,nssv1751466,nssv1750783 M 97 10 0 RPL22 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4461606 1 6248593 6248594 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025324 M 10847 1 0 RPL22 nsv4462211 1 6261060 6261061 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025334 M 10847 1 0 "" nsv954005 1 6263401 6271800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001634 M 1 0 1 RNF207 BILGI_BIOE nsv4039394 1 6265994 6266081 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853312 M 10847 0 1 "" nsv1126172 1 6268600 6269600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984401 M 2 0 1 RNF207 KWS1 esv3651177 1 6275095 6275095 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475263 M 20 1 0 RNF207 dgv8n67 1 6280681 6324363 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv825919,nsv825808 M 31 2 0 ACOT7,GPR153,HES3,ICMT,LINC00337,RNF207 AK6,NA18969 nsv4565816 1 6280852 6280853 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025345 M 10847 1 0 RNF207 nsv508825 1 6281335 6346609 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 nsv1119659 1 6288854 6288923 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982104 M 2 0 1 ICMT KWS1 nsv1119660 1 6288947 6289010 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982105 M 2 0 1 ICMT KWS1 nsv1076987 1 6295699 6296200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770360 M 1 0 1 ICMT KWP1 dgv28n106 1 6295700 6296400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1130943,nsv1118096 M 2 0 2 ICMT,LINC00337 KWS1,KWS2 nsv4535014 1 6296000 6296001 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024210 M 10847 1 0 ICMT nsv4534716 1 6296161 6296162 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022992 M 10847 1 0 "" nsv545237 1 6301050 6310236 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709151 M 17421 0 1 GPR153,HES3 nsv4044531 1 6301429 6302750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853321 M 10847 0 1 "" nsv1126173 1 6302200 6303000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984402 M 2 0 1 "" KWS1 nsv4049150 1 6306875 6306933 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853560 M 10847 0 1 "" nsv526371 1 6307255 6367219 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702667 M 2026 0 1 ACOT7,GPR153 nsv4044969 1 6308282 6319691 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853570 M 10847 0 1 GPR153 nsv545238 1 6308570 6317983 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709152 M 17421 0 1 GPR153 nsv965 1 6313180 6357882 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7223 M 9 0 1 ACOT7,GPR153 NA12156 nsv4043288 1 6315943 6316816 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853579 M 10847 0 1 GPR153 nsv4052130 1 6316168 6316261 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853329 M 10847 0 1 GPR153 nsv1076029 1 6320999 6321300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766005 M 1 0 1 GPR153 KWP1 nsv519253 1 6322936 6330015 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696748 M 2026 0 1 ACOT7 nsv545239 1 6322936 6349875 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709153 M 17421 0 1 ACOT7 esv2739695 1 6325177 6325517 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6793268,essv6937660 M 96 0 2 ACOT7 SSM022,SSM071 esv2739806 1 6325323 6325452 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6937660 M 96 0 1 ACOT7 SSM022 esv3659529 1 6325366 6325427 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16465249 M 20 0 0 ACOT7 nsv4041202 1 6326776 6330045 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853598 M 10847 0 1 ACOT7 nsv4042768 1 6326827 6333493 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853607 M 10847 0 1 ACOT7 nsv4035848 1 6330259 6333493 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854177 M 10847 0 1 ACOT7 nsv4037991 1 6351292 6351444 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854203 M 10847 0 1 ACOT7 nsv4040914 1 6357395 6358438 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854211 M 10847 0 1 ACOT7 esv2678878 1 6360584 6360699 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6522014,essv5912815,essv6502128,essv6021622,essv6406490,essv5713936,essv6425276,essv5573056,essv6430960,essv5774476,essv6433661,essv5953943,essv6440921,essv6126119,essv6501160,essv6274070,essv6476379,essv5646124,essv6301497,essv5770630,essv6320069,essv6075688,essv6517152,essv6252739,essv6490833,essv6106893,essv6331114,essv5829830,essv6349142,essv5566219,essv6353190,essv5960431,essv6356107,essv5933190,essv6580549,essv5832694,essv6068092,essv5740501,essv6134833,essv5929484,essv5881636,essv6055933,essv6061635,essv5603474,essv5616662,essv5889294,essv5629280,essv5874369,essv6251253,essv5655032,essv6002646,essv6209670,essv5590205,essv5581840,essv6206653,essv5445152 M 1151 0 56 ACOT7 HG00143,HG00146,HG00250,HG00421,HG00436,HG00513,HG00689,HG00692,HG01354,HG01521,NA07051,NA07346,NA11830,NA12058,NA12154,NA12400,NA18486,NA18520,NA18565,NA18570,NA18599,NA18615,NA18873,NA18963,NA18984,NA18986,NA18987,NA18988,NA19004,NA19007,NA19055,NA19057,NA19064,NA19065,NA19067,NA19213,NA19350,NA19439,NA19676,NA19707,NA19780,NA19788,NA19819,NA19834,NA19835,NA19916,NA19920,NA19982,NA20524,NA20533,NA20539,NA20752,NA20757,NA20769,NA20783,NA20787 esv3679335 1 6360584 6360700 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500605 M 20 0 1 ACOT7 nsv3324487 1 6360817 6360817 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485025 M 14 1 0 ACOT7 NA19240 esv3585102 1 6362136 6367625 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845893,essv9845892 M 2504 0 2 ACOT7 HG03895,HG04107 nsv4037379 1 6362242 6367623 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854222 M 10847 0 1 ACOT7 nsv4461652 1 6363523 6363524 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023001 M 10847 1 0 ACOT7 esv24092 1 6366319 6368893 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18277 M 40 0 1 ACOT7 NA19240 nsv522013 1 6367219 6456472 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694782 M 2026 0 1 ACOT7 esv2739917 1 6367699 6368264 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6967914,essv6950084,essv6859170,essv6801608,essv6780851,essv6917410 M 96 0 6 ACOT7 SSM004,SSM017,SSM028,SSM068,SSM073,SSM088 esv2740028 1 6367870 6367923 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859170 M 96 0 1 ACOT7 SSM088 nsv521525 1 6379607 6387784 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698142 M 2026 0 1 ACOT7 nsv4045373 1 6383443 6383777 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854232 M 10847 0 1 ACOT7 nsv1076 1 6385350 6429582 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2226 M 9 0 1 ACOT7 NA18555 nsv4033771 1 6396978 6397116 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854251 M 10847 0 1 ACOT7 esv3651383 1 6399812 6399812 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475448 M 20 1 0 ACOT7 nsv4044849 1 6401223 6401284 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854261 M 10847 0 1 ACOT7 nsv477455 1 6402353 6402353 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013155 M 9 1 0 ACOT7 NA18517 nsv1009548 1 6403036 6577412 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696764 M 29084 0 1 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 nsv4040466 1 6404481 6404909 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854272 M 10847 0 1 ACOT7 nsv523989 1 6411214 6456472 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699845 M 2026 0 1 ACOT7 nsv545240 1 6411214 6572175 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709154 M 17421 0 1 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 nsv1119661 1 6413448 6413523 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982106 M 2 0 1 ACOT7 KWS1 nsv4043799 1 6422568 6430872 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854281 M 10847 0 1 ACOT7 nsv4536279 1 6424120 6424121 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023020 M 10847 1 0 ACOT7 nsv4562988 1 6425507 6425508 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023029 M 10847 1 0 ACOT7 nsv1113068 1 6431604 6431671 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967959 M 2 0 1 ACOT7 KWS2 dgv11e199 1 6434463 6445353 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2665730,esv2673327 M 1151 0 8 ACOT7 HG00138,HG00159,HG00246,HG00325,HG00684,HG01140,NA12342,NA20504 esv3585104 1 6434482 6445321 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845910,essv9845901,essv9845900,essv9845897,essv9845896,essv9845899,essv9845898,essv9845909,essv9845904,essv9845903,essv9845902,essv9845905,essv9845908,essv9845907,essv9845906,essv9845912,essv9845917,essv9845911,essv9845916,essv9845913,essv9845915,essv9845914 M 2504 0 22 ACOT7 HG00096,HG00138,HG00325,HG00345,HG00371,HG00684,HG01140,HG01344,HG01509,HG02681,HG03007,HG03625,HG03731,HG03864,HG03922,NA12044,NA12046,NA12760,NA18558,NA19914,NA20504,NA20870 nsv4043332 1 6436486 6438096 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854740 M 10847 0 1 ACOT7 esv3585105 1 6436514 6438135 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845918 M 2504 0 1 ACOT7 HG02666 nsv545241 1 6437542 6445368 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709155 M 17421 0 1 ACOT7 esv3539789 1 6437890 6446000 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9738536 M 767 0 1 ACOT7 esv3585106 1 6438160 6445897 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845929,essv9845928,essv9845927,essv9845926,essv9845920,essv9845925,essv9845919,essv9845921,essv9845924,essv9845923,essv9845922,essv9845933,essv9845942,essv9845932,essv9845931,essv9845930,essv9845941,essv9845936,essv9845935,essv9845934,essv9845940,essv9845937,essv9845939,essv9845938,essv9845944,essv9845943,essv9845948,essv9845945,essv9845947,essv9845946 M 2504 0 30 ACOT7 HG00096,HG00126,HG00138,HG00159,HG00176,HG00246,HG00325,HG00345,HG00371,HG01140,HG01344,HG01509,HG01516,HG02660,HG02681,HG03007,HG03625,HG03731,HG03864,HG03922,HG03967,NA12044,NA12046,NA12342,NA12760,NA12872,NA18558,NA19914,NA20504,NA20870 esv2678076 1 6438169 6445895 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6270116,essv5621209,essv6323711,essv6180877,essv6038179,essv5499015,essv5579207,essv5574356,essv6110969,essv5746308,essv5712074,essv5814488,essv6083095 M 1151 0 13 ACOT7 HG00138,HG00159,HG00176,HG00246,HG00325,HG00345,HG01140,NA12044,NA12046,NA12342,NA18558,NA19914,NA20504 nsv4034917 1 6438169 6445895 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854757 M 10847 0 1 ACOT7 esv21684 1 6438194 6445835 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12785 M 40 0 1 ACOT7 NA12044 dgv77n54 1 6439368 6445806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545248,nsv545247,nsv545250,nsv545242,nsv545249,nsv545244,nsv545246,nsv545243,nsv545245 M 17421 0 39 ACOT7 nsv4561343 1 6440948 6440949 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023595 M 10847 1 0 ACOT7 dgv78n54 1 6441893 6445806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545252,nsv545251 M 17421 0 5 ACOT7 nsv4034100 1 6443264 6454655 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854767 M 10847 0 1 ACOT7 dgv79n54 1 6444278 6445752 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545255,nsv545253,nsv545256,nsv545254 M 17421 0 5 ACOT7 nsv545257 1 6444967 6445806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709205 M 17421 0 1 ACOT7 nsv1118097 1 6453000 6454100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980316 M 2 0 1 ACOT7 KWS1 nsv4037078 1 6453104 6453170 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854774 M 10847 0 1 ACOT7 dgv2n27 1 6456472 6572175 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 6456472 6572175 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 nsv4043869 1 6458171 6458255 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854785 M 10847 0 1 "" esv3585107 1 6458634 6459611 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845959,essv9845992,essv9845958,essv9845949,essv9845952,essv9845957,essv9845951,essv9845950,essv9845953,essv9845956,essv9845955,essv9845954,essv9845960,essv9845965,essv9845991,essv9845974,essv9845961,essv9845964,essv9845963,essv9845962,essv9845968,essv9845973,essv9845967,essv9845966,essv9845969,essv9845972,essv9845971,essv9845970,essv9845981,essv9845976,essv9845975,essv9845990,essv9845977,essv9845980,essv9845979,essv9845978,essv9845984,essv9845989,essv9845983,essv9845982,essv9845985,essv9845988,essv9845987,essv9845986,essv9845997,essv9846023,essv9846006,essv9845993,essv9845996,essv9845995,essv9845994,essv9846005,essv9846000,essv9845999,essv9845998,essv9846004,essv9846001,essv9846003,essv9846002,essv9846013,essv9846008,essv9846022,essv9846007,essv9846012,essv9846009,essv9846011,essv9846010,essv9846016,essv9846021,essv9846015,essv9846014,essv9846020,essv9846017,essv9846019,essv9846018,essv9846029,essv9846025,essv9846028,essv9846024,essv9846027,essv9846026 M 2504 0 81 "" HG00743,HG01312,HG01896,HG01986,HG01989,HG02052,HG02053,HG02143,HG02317,HG02334,HG02419,HG02445,HG02449,HG02464,HG02502,HG02508,HG02557,HG02582,HG02583,HG02629,HG02678,HG02757,HG02768,HG02879,HG02887,HG02944,HG02981,HG03046,HG03048,HG03057,HG03058,HG03111,HG03198,HG03212,HG03258,HG03351,HG03352,HG03470,HG03479,HG03515,HG03517,HG03559,HG03572,NA18489,NA18498,NA18505,NA18517,NA18523,NA18853,NA19024,NA19036,NA19042,NA19095,NA19107,NA19113,NA19131,NA19137,NA19200,NA19210,NA19214,NA19239,NA19247,NA19319,NA19320,NA19328,NA19331,NA19332,NA19334,NA19351,NA19384,NA19428,NA19449,NA19461,NA19466,NA19472,NA19475,NA19664,NA19818,NA20276,NA20348,NA20362 esv2678507 1 6458636 6459610 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6395166,essv5761716,essv5461566,essv5547221,essv5695343,essv5518920,essv5544144,essv6014139 M 1151 0 8 "" NA18489,NA18853,NA19247,NA19331,NA19332,NA19428,NA19472,NA19664 nsv4048991 1 6458636 6459610 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854794 M 10847 0 1 "" esv29840 1 6458853 6459551 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11459 M 40 0 2 "" NA18517,NA18523 nsv4320407 1 6460677 6467418 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788847 M 10847 0 0 "" esv3651465 1 6463851 6463851 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475521 M 20 1 0 "" nsv508836 1 6466956 6561089 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 nsv954048 1 6474301 6560800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001645 M 1 0 1 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 BILGI_BIOE nsv4462373 1 6474336 6474337 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023604 M 10847 1 0 "" esv25412 1 6476628 6521516 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv14500 M 40 1 2 ESPN,HES2,MIR4252,TNFRSF25 NA12489,NA18916,NA19147 nsv7880 1 6478028 6671974 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 nsv1142745 1 6484800 6485200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994244 M 2 0 1 ESPN KWS1 nsv482179 1 6484848 6521003 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558540 M 1 1 0 ESPN,MIR4252 KB1 nsv831536 1 6489386 6665403 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442207,nssv1442351,nssv1442307,nssv1442340,nssv1442240,nssv1442296,nssv1442373,nssv1442273,nssv1442284,nssv1442262,nssv1442329,nssv1442362,nssv1442251,nssv1442218,nssv1442229,nssv1442318 M 95 0 16 ESPN,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 dgv9n67 1 6489926 6524490 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv826030,nsv826142 M 31 2 0 ESPN,MIR4252,TNFRSF25 NA18564,NA18969 nsv4044936 1 6490626 6491058 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854807 M 10847 0 1 ESPN esv3672637 1 6491688 6491689 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494577 M 20 0 0 ESPN nsv470690 1 6494399 6572175 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547695 M 443 1 0 ESPN,PLEKHG5,TNFRSF25 HGDP00553 esv3651589 1 6497680 6497680 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475633 M 20 1 0 ESPN esv3672661 1 6514745 6514746 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494599 M 20 0 0 ESPN nsv545264 1 6517179 6552499 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709210 M 17421 0 1 ESPN,PLEKHG5,TNFRSF25 nsv470691 1 6520311 6577765 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547696 M 443 0 1 ESPN,PLEKHG5,TNFRSF25 HGDP00978 nsv462061 1 6523430 6580896 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538332 M 1557 0 1 PLEKHG5,TNFRSF25 HGDP00614 nsv545265 1 6523430 6580896 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173655 M 17421 0 1 PLEKHG5,TNFRSF25 HGDP00614 nsv545266 1 6524501 6530435 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709211 M 17421 0 1 PLEKHG5,TNFRSF25 nsv545267 1 6526324 6564156 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709212 M 17421 0 1 PLEKHG5 nsv4051025 1 6535272 6535341 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854816 M 10847 0 1 PLEKHG5 nsv1187 1 6547844 6567465 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3152 M 9 1 0 PLEKHG5 NA12878 nsv4043765 1 6548043 6548331 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854825 M 10847 0 1 PLEKHG5 nsv545268 1 6550376 6638064 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709213 M 17421 0 1 NOL9,PLEKHG5,TAS1R1 nsv473388 1 6559179 6559179 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011403 M 9 1 0 PLEKHG5 NA19129 nsv3324495 1 6560699 6560699 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473486 M 14 1 0 PLEKHG5 HG01352 esv3540122 1 6577131 6577191 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9738869 M 767 0 1 PLEKHG5 nsv1119662 1 6578137 6578206 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982107 M 2 0 1 PLEKHG5 KWS1 nsv4043942 1 6580974 6582807 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854852 M 10847 0 1 NOL9 nsv831647 1 6585869 6647590 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442529,nssv1442473,nssv1442540,nssv1442407,nssv1442418,nssv1442495,nssv1442384,nssv1442462,nssv1442440,nssv1442451,nssv1442429,nssv1442395,nssv1442506,nssv1442518,nssv1442484 M 95 0 15 NOL9,TAS1R1,ZBTB48 esv3651714 1 6598051 6598051 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475746 M 20 1 0 NOL9 nsv4518304 1 6602121 6602575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853344 M 10847 0 1 NOL9 nsv545269 1 6606608 6690140 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709214 M 17421 0 1 KLHL21,NOL9,PHF13,TAS1R1,THAP3,ZBTB48 dgv19n166 1 6611596 6612461 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nsv4566361,nsv4557714 M 10847 0 0 NOL9 nsv4050411 1 6616000 6626000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853354 M 10847 0 1 TAS1R1 nsv4037720 1 6616743 6635755 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853362 M 10847 0 1 TAS1R1 esv3651782 1 6617068 6617068 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475807 M 20 1 0 TAS1R1 nsv4044769 1 6618501 6618851 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853369 M 10847 0 1 TAS1R1 nsv4535208 1 6618953 6618954 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023616 M 10847 1 0 TAS1R1 esv1249079 1 6618972 6618972 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4064753 M 2 1 0 TAS1R1 HuRef nsv3325472 1 6618973 6618973 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14480579 M 14 1 0 TAS1R1 CHM1 nsv1078292 1 6619141 6619828 OTHER inversion Thareja_et_al_2015 25765185 Sequencing nssv3771851 M 1 0 0 TAS1R1 KWP1 esv3302807 1 6620539 6630319 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7734013,essv7736227,essv7733376 M 185 3 0 TAS1R1 NA18517,NA18871,NA18945 esv3585108 1 6621091 6626994 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846032,essv9846031,essv9846030,essv9846033 M 2504 0 4 TAS1R1 HG03873,HG03953,HG03998,NA21106 nsv4042630 1 6626809 6633870 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853377 M 10847 0 1 TAS1R1 nsv4035913 1 6627536 6628431 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965306 M 10847 1 0 TAS1R1 nsv4042242 1 6633453 6633532 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853384 M 10847 0 1 TAS1R1 nsv476608 1 6637146 6637146 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012014 M 9 1 0 TAS1R1 NA12878 nsv955151 1 6642301 6658200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001656 M 1 0 1 KLHL21,ZBTB48 BILGI_BIOE nsv4038737 1 6643009 6644929 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853394 M 10847 0 1 ZBTB48 nsv472111 1 6648560 6648560 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011064 M 9 1 0 ZBTB48 NA18555 nsv826253 1 6660245 6688703 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426369 M 31 1 0 KLHL21,PHF13,THAP3 AK6 nsv4035600 1 6666154 6666232 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853402 M 10847 0 1 "" nsv1113069 1 6666934 6667007 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967960 M 2 0 1 "" KWS2 nsv1133801 1 6670109 6670167 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969371 M 2 0 1 "" KWS2 dgv29n106 1 6673000 6675900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126174,nsv1121745 M 2 0 2 PHF13 KWS1,KWS2 nsv955152 1 6673601 6675200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001667 M 1 0 1 PHF13 BILGI_BIOE nsv1076992 1 6674399 6675200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767120 M 1 0 1 PHF13 KWP1 nsv4534174 1 6700460 6700461 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025368 M 10847 1 0 DNAJC11 nsv437199 1 6702151 6803747 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467080 M 60 0 1 DNAJC11,LOC100505887 NA19205 nsv1004598 1 6705356 7238663 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470065 M 29084 1 0 CAMTA1,DNAJC11,LOC100505887 esv3651844 1 6709246 6709246 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475863 M 20 1 0 DNAJC11 nsv4517322 1 6722103 6722327 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854291 M 10847 0 1 DNAJC11 esv3585109 1 6724320 6725187 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846034 M 2504 0 1 DNAJC11 HG01672 nsv945756 1 6726198 6727108 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750849,nssv1750929,nssv1750924,nssv1750879,nssv1750842,nssv1750898,nssv1750922,nssv1750893,nssv1750861,nssv1750896,nssv1750855,nssv1750865,nssv1750854,nssv1750915,nssv1750862,nssv1750910,nssv1750853,nssv1750907,nssv1750925,nssv1750911,nssv1750846,nssv1750914,nssv1750845,nssv1750902,nssv1750871,nssv1750906,nssv1750917,nssv1750840,nssv1750920,nssv1750897,nssv1750923,nssv1750873,nssv1750850,nssv1750936,nssv1750864,nssv1750903,nssv1750847,nssv1750882,nssv1750859,nssv1750881,nssv1750852,nssv1750887,nssv1750921,nssv1750878,nssv1750856,nssv1750875,nssv1750868,nssv1750901,nssv1750844,nssv1750934,nssv1750926,nssv1750877,nssv1750848,nssv1750880,nssv1750919,nssv1750863,nssv1750851,nssv1750894,nssv1750858,nssv1750892,nssv1750860,nssv1750932,nssv1750857,nssv1750867,nssv1750841,nssv1750927,nssv1750843,nssv1750913,nssv1750918,nssv1750866,nssv1750869,nssv1750899,nssv1750905,nssv1750890,nssv1750904,nssv1750930,nssv1750931,nssv1750883,nssv1750891,nssv1750935,nssv1750908,nssv1750889,nssv1750876,nssv1750900,nssv1750888,nssv1750870,nssv1750909,nssv1750912,nssv1750886,nssv1750928,nssv1750872,nssv1750916,nssv1750933,nssv1750895,nssv1750874,nssv1750884,nssv1750885 M 97 10 0 DNAJC11 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2640779 1 6728607 6729873 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5234545 M 1 0 1 DNAJC11 NA18507 esv2237641 1 6729218 6729787 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4834781 M 1 0 1 DNAJC11 NA18507 nsv1298 1 6738208 6758452 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4861 M 9 1 0 DNAJC11 NA19129 nsv4044702 1 6744430 6753685 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854302 M 10847 0 1 DNAJC11 nsv1137722 1 6749849 6749916 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990229 M 2 0 1 DNAJC11 KWS2 nsv525013 1 6756434 6761261 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701050 M 2026 0 1 DNAJC11 nsv4535145 1 6758268 6758269 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025378 M 10847 1 0 DNAJC11 nsv3325838 1 6758269 6758269 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14486868 M 14 1 0 DNAJC11 HG02818 nsv1130944 1 6761700 6763700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967641 M 2 0 1 DNAJC11 KWS2 esv2660484 1 6762325 6763729 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6494991 M 1151 0 1 "" NA19916 esv28409 1 6762626 6763496 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18257 M 40 0 1 "" NA18909 nsv4046770 1 6764205 6766620 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854312 M 10847 0 1 "" esv3651913 1 6777683 6777683 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475925 M 20 1 0 "" nsv1126972 1 6777837 6777891 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985260 M 2 0 1 "" KWS1 nsv4038881 1 6780585 6782234 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965317 M 10847 1 0 "" nsv4518056 1 6782238 6783168 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965326 M 10847 1 0 "" nsv4035680 1 6787228 6793593 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965335 M 10847 1 0 LOC100505887 esv28362 1 6787516 6793395 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14015 M 40 1 0 LOC100505887 NA19225 nsv4462240 1 6787763 6787764 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025388 M 10847 1 0 LOC100505887 nsv4043850 1 6789000 6802000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854330 M 10847 0 1 LOC100505887 esv2658131 1 6791743 6793120 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6536392,essv6579898 M 1151 0 2 "" NA19373,NA19393 nsv4034616 1 6791773 6793120 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854338 M 10847 0 1 "" esv3585111 1 6796042 6803582 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846043 M 2504 1 0 "" HG01776 nsv4035573 1 6799053 6808361 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854347 M 10847 0 1 "" nsv512713 1 6802507 6802802 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625337 M 1 1 0 "" 1 nsv3324739 1 6802617 6802617 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491400,nssv14477990,nssv14482836 M 14 3 0 "" CHM1,HG00268,HG02818 esv1464790 1 6802621 6802621 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3709090 M 2 1 0 "" HuRef nsv3325479 1 6802648 6802648 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478787,nssv14481195,nssv14487804,nssv14486263,nssv14489911,nssv14489805,nssv14484918 M 14 7 0 "" CHM1,CHM13,HG00514,HG01352,HG02059,HG02106,HG02818 nsv4050647 1 6808673 6808854 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962903 M 10847 1 0 "" nsv4462392 1 6814803 6814804 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025398 M 10847 1 0 "" nsv3325481 1 6814804 6814804 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14477968,nssv14476382,nssv14487811 M 14 3 0 "" CHM13,HG00514,HG02106 nsv4034750 1 6820034 6830094 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962914 M 10847 1 0 "" nsv4043007 1 6822000 6835000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855073 M 10847 0 1 "" nsv4048536 1 6829782 6836196 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855081 M 10847 0 1 "" nsv4048412 1 6832812 6834314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855091 M 10847 0 1 "" nsv4037567 1 6842000 6848000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962924 M 10847 1 0 CAMTA1 nsv1076034 1 6845399 6846100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768037 M 1 0 1 CAMTA1 KWP1 nsv4462001 1 6849257 6849258 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025407 M 10847 1 0 CAMTA1 nsv4046152 1 6850853 6850989 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855099 M 10847 0 1 CAMTA1 esv1979443 1 6858542 6858971 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4873252 M 1 0 1 CAMTA1 NA18507 esv2740139 1 6858553 6858864 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6902516,essv6946478,essv6813159,essv6821165,essv6718152,essv6800487,essv6689250,essv6807361,essv6714228,essv6710566,essv6836179,essv6880412,essv6797435,essv6910026,essv6916551,essv6793269,essv6853214,essv6954719,essv6921701,essv6895835,essv6871703,essv6804392,essv6766528,essv6863940,essv6972312,essv6721993,essv6703849,essv6925675,essv6784979,essv6707251,essv6780852,essv6801609 M 96 0 32 CAMTA1 SSM002,SSM003,SSM013,SSM015,SSM018,SSM019,SSM024,SSM026,SSM029,SSM036,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM064,SSM068,SSM069,SSM071,SSM072,SSM073,SSM074,SSM075,SSM077,SSM079,SSM083,SSM087,SSM089,SSM091,SSM094,SSM099 esv3540344 1 6858622 6858843 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9739091 M 767 0 1 CAMTA1 nsv3324506 1 6858641 6858705 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482406 M 14 0 1 CAMTA1 HX1 nsv955443 1 6858651 6858820 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000445 M 1 0 1 CAMTA1 BILGI_BIOE esv1086035 1 6858652 6858831 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3780745 M 2 0 1 CAMTA1 HuRef esv999225 1 6858656 6858832 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3581910 M 3 0 1 CAMTA1 HuRef nsv3324507 1 6858660 6858772 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14474563,nssv14472870,nssv14475327,nssv14483541 M 14 0 4 CAMTA1 CHM13,HG00514,HG02059,HG02818 nsv3324741 1 6858786 6858851 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14489101 M 14 0 1 CAMTA1 CHM13 esv3585114 1 6861163 6861821 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846131,essv9846130 M 2504 0 2 CAMTA1 NA18909,NA19916 esv25521 1 6861345 6861918 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20468 M 40 0 1 CAMTA1 NA18909 nsv4034301 1 6861418 6861917 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855106 M 10847 0 1 CAMTA1 nsv4034029 1 6867603 6867722 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855114 M 10847 0 1 CAMTA1 esv3668619 1 6898761 6898761 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490961 M 20 1 0 CAMTA1 nsv3324508 1 6928168 6928168 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14473739 M 14 1 0 CAMTA1 HG01352 nsv4034808 1 6960115 6962556 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855124 M 10847 0 1 CAMTA1 esv2740250 1 6977037 6977502 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6929046 M 96 0 1 CAMTA1 SSM020 nsv4033772 1 6985274 6985717 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855133 M 10847 0 1 CAMTA1 nsv3325486 1 6986449 6986616 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473611 M 14 0 1 CAMTA1 HG02106 nsv4517728 1 6989357 6989486 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854860 M 10847 0 1 CAMTA1 dgv30n106 1 6997498 6997650 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1124182,nsv1121439 M 2 0 2 CAMTA1 KWS1,KWS2 nsv1075090 1 6997505 6997670 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771983 M 1 0 1 CAMTA1 KWP1 nsv1147277 1 6997514 6997627 CNV deletion John_et_al_2014 26484159 Sequencing nssv4000050 M 1 0 1 CAMTA1 KWB1 nsv3324509 1 6997574 6997574 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481861 M 14 1 0 CAMTA1 HG02106 esv3674463 1 6997622 6997677 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16466593 M 20 0 0 CAMTA1 nsv3324510 1 6997668 6997668 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473678,nssv14472688,nssv14477163,nssv14482330,nssv14472827,nssv14491264,nssv14479018,nssv14474919,nssv14491672,nssv14477996,nssv14488751,nssv14480656,nssv14479087,nssv14484525 M 14 14 0 CAMTA1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv1075512 1 6997786 6997855 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771408 M 1 0 1 CAMTA1 KWP1 esv3679712 1 6997787 6997856 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500945 M 20 0 1 CAMTA1 esv2556451 1 7000416 7001246 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5345164 M 1 1 0 CAMTA1 NA18507 esv3351162 1 7000820 7001039 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652095 M 185 1 0 CAMTA1 NA19240 nsv512714 1 7000943 7000999 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625338 M 1 1 0 CAMTA1 1 nsv3325488 1 7000973 7000973 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481103,nssv14480387,nssv14483259,nssv14482659,nssv14479088,nssv14474865,nssv14478774,nssv14475956,nssv14476966,nssv14485517,nssv14476269,nssv14475808,nssv14490048,nssv14491682 M 14 14 0 CAMTA1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1590628 1 7000995 7000995 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4106152 M 2 1 0 CAMTA1 HuRef nsv4462253 1 7011158 7011159 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025443 M 10847 1 0 CAMTA1 nsv4462405 1 7011591 7011592 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025454 M 10847 1 0 CAMTA1 dgv81n54 1 7014444 7024222 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545271,nsv545270,nsv545272 M 17421 3 0 CAMTA1 nsv4036987 1 7014856 7017580 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854871 M 10847 0 1 CAMTA1 nsv545273 1 7016109 7023241 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709218 M 17421 0 1 CAMTA1 nsv4038496 1 7017633 7017755 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962943 M 10847 1 0 CAMTA1 dgv82n54 1 7020627 7023494 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545275,nsv545274,nsv545276 M 17421 0 3 CAMTA1 nsv1075096 1 7021599 7023700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768873 M 1 0 1 CAMTA1 KWP1 esv28688 1 7022668 7023529 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12322 M 40 0 2 CAMTA1 NA12489,NA18517 dgv83n54 1 7022699 7023292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545278,nsv545279,nsv545284,nsv545285 M 17421 0 21 CAMTA1 dgv84n54 1 7022699 7023331 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545286,nsv545277 M 17421 2 0 CAMTA1 dgv85n54 1 7022699 7023494 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545288,nsv545282,nsv545280,nsv545290,nsv545281 M 17421 145 45 CAMTA1 nsv545283 1 7022699 7024222 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 7022750 7023438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545292,nsv545294,nsv545287 M 17421 0 9 CAMTA1 nsv545289 1 7022750 7024222 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709443,nssv709444 M 17421 0 2 CAMTA1 dgv87n54 1 7022774 7023494 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545291,nsv545295,nsv545293 M 17421 3 0 CAMTA1 nsv545296 1 7023187 7023292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709457 M 17421 0 1 CAMTA1 nsv545297 1 7023187 7023438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709459,nssv709458 M 17421 0 2 CAMTA1 nsv545298 1 7023292 7023438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709460 M 17421 0 1 CAMTA1 nsv3325494 1 7039853 7039905 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479469 M 14 0 1 CAMTA1 HG02818 nsv4516665 1 7039877 7039942 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854879 M 10847 0 1 CAMTA1 nsv4047958 1 7039963 7047895 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854889 M 10847 0 1 CAMTA1 esv2482000 1 7043630 7044699 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5354983 M 1 1 0 CAMTA1 NA18507 nsv3324747 1 7044147 7044147 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490038,nssv14476143,nssv14483096,nssv14479124,nssv14483793,nssv14486896,nssv14473296,nssv14474344,nssv14474036,nssv14486079,nssv14483492,nssv14488182,nssv14475067 M 14 13 0 CAMTA1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 esv3668659 1 7044150 7044150 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490998 M 20 1 0 CAMTA1 esv3577713 1 7047674 7054607 CNV loss Uddin_et_al_2014 25503493 SNP array essv9789311 M 873 0 1 CAMTA1 400871CM nsv4036317 1 7055377 7056100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854899 M 10847 0 1 CAMTA1 nsv4048024 1 7075770 7075881 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854910 M 10847 0 1 CAMTA1 esv3668687 1 7078188 7078188 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491022 M 20 1 0 CAMTA1 nsv4537103 1 7078188 7078189 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026024 M 10847 1 0 CAMTA1 nsv3325178 1 7078189 7078189 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14490056,nssv14489145,nssv14476013,nssv14485029 M 14 4 0 CAMTA1 CHM13,HG02059,HG02818,HX1 esv988826 1 7078203 7078203 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566621 M 3 1 0 CAMTA1 HuRef nsv4038807 1 7079175 7082384 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855449 M 10847 0 1 CAMTA1 nsv519205 1 7090216 7099660 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696693 M 2026 0 1 CAMTA1 nsv4462413 1 7093315 7093316 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026033 M 10847 1 0 CAMTA1 esv3585117 1 7116417 7119267 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846568 M 2504 0 1 CAMTA1 HG02783 nsv4037237 1 7134773 7134840 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855459 M 10847 0 1 CAMTA1 nsv4462021 1 7138566 7138567 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024244 M 10847 1 0 CAMTA1 nsv4461703 1 7139010 7139011 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024252 M 10847 1 0 CAMTA1 esv990496 1 7147391 7159783 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563883 M 3 0 1 CAMTA1 HuRef esv2740361 1 7161904 7164364 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946479,essv6710567 M 96 0 2 CAMTA1 SSM024,SSM042 dgv33e59 1 7163165 7164663 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 nsv1133126 1 7163384 7163482 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987945 M 2 1 0 CAMTA1 KWS1 nsv4517816 1 7163427 7163486 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855140 M 10847 0 1 CAMTA1 esv2740472 1 7163491 7164122 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946479 M 96 0 1 CAMTA1 SSM024 esv2662615 1 7163578 7164357 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5825273,essv6389571,essv5407192,essv6390151,essv5546239,essv6392068,essv5640425,essv6170669,essv5705913,essv6221904,essv5586530,essv6080785,essv5687811,essv6400012,essv5772741,essv6400365,essv5778939,essv6400414,essv5824214,essv6404374,essv5751967,essv6082374,essv5680344,essv5922783,essv5700439,essv6414758,essv5586182,essv6038791,essv5700801,essv6417169,essv5567262,essv6417621,essv5474307,essv6420161,essv5614526,essv6425611,essv5604783,essv6551273,essv5506112,essv6106189,essv5622472,essv6436368,essv5508229,essv6443521,essv5798197,essv6446225,essv5816558,essv6263300,essv5661113,essv5939466,essv5643917,essv6262940,essv5700612,essv6291866,essv5714957,essv6267698,essv5570529,essv6058189,essv5637918,essv6091553,essv5559070,essv6157214,essv5680446,essv6136763,essv5449031,essv6478572,essv5646313,essv5969894,essv5644272,essv5976154,essv5695078,essv6572989,essv5424552,essv6235026,essv5432162,essv6297745,essv5437676,essv5921160,essv5669141,essv6581149,essv5693690,essv6249994,essv5614360,essv5931053,essv5670913,essv5934358,essv5743362,essv6133354,essv5467949,essv5847072,essv5577675,essv6542582,essv5516164,essv6071423,essv5435379,essv5874213,essv5608651,essv6522841,essv5396873,essv6313096,essv5411888,essv6031455,essv5545314,essv5846026,essv5635531,essv6120183,essv5809862,essv6213322,essv5765955,essv5914269,essv5779219,essv6236961,essv5562667,essv5988896,essv5727031,essv5969131,essv5773932,essv6471790,essv5457577,essv6320692,essv5458066,essv6552907,essv5610386,essv5957709,essv5698996,essv6326297,essv5817572,essv6142381,essv5434901,essv6059252,essv5640023,essv5996400,essv5582425,essv6550476,essv5747126,essv6260308,essv5435741,essv6509693,essv5725971,essv5847007,essv5443323,essv6541165,essv5530572,essv6034742,essv6336524,essv5886921,essv6058443,essv6339704,essv6340463,essv6539568,essv6179144,essv6570341,essv6179353,essv6342382,essv5834837,essv6464000,essv6220693,essv6048810,essv6284032,essv6280102,essv6151036,essv6021253,essv6252777,essv6045115,essv6038926,essv6031050,essv6035854,essv6081756,essv6349849,essv6524729,essv6475526,essv6083569,essv6024967,essv5884386,essv6077806,essv6486681,essv6117906,essv6359511,essv5865612,essv6237058,essv6118440,essv6062663,essv6477117,essv6510586,essv6003699,essv6021950,essv6239833,essv6105011,essv6002793,essv6088475,essv6585810,essv6495505,essv5969769,essv5905901,essv6049724,essv6246335,essv6001304,essv6201308,essv6049204,essv6508293,essv6493628,essv6256694,essv5910254,essv6206663,essv6103376,essv5924077,essv6236128 M 1151 0 207 CAMTA1 HG00106,HG00123,HG00133,HG00138,HG00140,HG00142,HG00148,HG00149,HG00154,HG00157,HG00174,HG00186,HG00187,HG00233,HG00242,HG00245,HG00262,HG00264,HG00272,HG00278,HG00308,HG00311,HG00312,HG00326,HG00336,HG00338,HG00339,HG00342,HG00357,HG00367,HG00380,HG00449,HG00478,HG00479,HG00533,HG00536,HG00537,HG00551,HG00581,HG00589,HG00590,HG00607,HG00626,HG00637,HG00641,HG00657,HG00684,HG00699,HG00701,HG00702,HG00707,HG00736,HG00737,HG00740,HG01048,HG01060,HG01080,HG01101,HG01125,HG01133,HG01134,HG01136,HG01149,HG01170,HG01254,HG01354,HG01365,HG01377,HG01384,HG01491,HG01497,HG01551,NA06989,NA11830,NA12045,NA12155,NA12272,NA12342,NA12347,NA12348,NA12778,NA18488,NA18489,NA18516,NA18519,NA18520,NA18543,NA18550,NA18564,NA18567,NA18611,NA18613,NA18616,NA18617,NA18631,NA18634,NA18637,NA18853,NA18856,NA18867,NA18873,NA18874,NA18908,NA18945,NA18959,NA18963,NA18964,NA18977,NA18982,NA18986,NA18988,NA19007,NA19010,NA19012,NA19060,NA19062,NA19079,NA19084,NA19092,NA19107,NA19130,NA19172,NA19189,NA19213,NA19223,NA19247,NA19248,NA19256,NA19312,NA19313,NA19315,NA19324,NA19327,NA19331,NA19334,NA19346,NA19350,NA19360,NA19376,NA19382,NA19384,NA19390,NA19396,NA19397,NA19428,NA19431,NA19435,NA19436,NA19439,NA19440,NA19443,NA19445,NA19448,NA19449,NA19452,NA19457,NA19463,NA19467,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19648,NA19658,NA19661,NA19676,NA19678,NA19685,NA19700,NA19701,NA19712,NA19713,NA19746,NA19780,NA19818,NA19819,NA19834,NA19900,NA19901,NA19916,NA19917,NA19982,NA20127,NA20332,NA20348,NA20510,NA20521,NA20533,NA20537,NA20541,NA20581,NA20757,NA20759,NA20770,NA20771,NA20785,NA20786,NA20787,NA20792,NA20796,NA20800,NA20802,NA20809,NA20810 nsv1075515 1 7163893 7163974 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763525 M 1 0 1 CAMTA1 KWP1 nsv1145316 1 7163894 7163974 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982409 M 2 0 1 CAMTA1 KWS1 esv2444029 1 7164106 7164254 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5208770 M 1 0 1 CAMTA1 NA18507 nsv1076048 1 7164109 7164192 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762850 M 1 0 1 CAMTA1 KWP1 nsv4049932 1 7171000 7247200 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962951 M 10847 1 0 CAMTA1 esv2740584 1 7174710 7175533 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6937661,essv6929047,essv6824967,essv6906090,essv6756539,essv6682814,essv6843754,essv6742124,essv6880413,essv6729605,essv6696981,essv6846994,essv6853215,essv6784980,essv6916562,essv6859172,essv6816569,essv6735968,essv6816621,essv6859171,essv6669110,essv6888993,essv6888994,essv6810331,essv6895836,essv6804393,essv6766529,essv6954720,essv6898595,essv6972313,essv6750584,essv6668922,essv6668923,essv6703850,essv6863941,essv6961535,essv6679151 M 96 0 34 CAMTA1 SSM003,SSM005,SSM010,SSM011,SSM014,SSM020,SSM022,SSM026,SSM027,SSM029,SSM031,SSM033,SSM034,SSM038,SSM040,SSM047,SSM050,SSM053,SSM057,SSM059,SSM064,SSM069,SSM074,SSM076,SSM078,SSM080,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM099,SSM100 esv2740695 1 7174774 7175085 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6929047,essv6906090,essv6756539,essv6682814,essv6843754,essv6742124,essv6729605,essv6880413,essv6859171,essv6916562,essv6853215,essv6816569,essv6735968,essv6888993,essv6810331,essv6895836,essv6846994,essv6804393,essv6766529,essv6937661,essv6824967,essv6954720,essv6784980,essv6898595,essv6750584,essv6972313,essv6668922,essv6679151,essv6863941 M 96 0 29 CAMTA1 SSM003,SSM011,SSM014,SSM020,SSM022,SSM026,SSM029,SSM031,SSM033,SSM034,SSM047,SSM050,SSM053,SSM057,SSM059,SSM064,SSM069,SSM074,SSM076,SSM078,SSM080,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM099,SSM100 nsv3325500 1 7174806 7174806 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479203 M 14 1 0 CAMTA1 HG02106 nsv3325855 1 7174807 7174904 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477755,nssv14474295,nssv14490223,nssv14489772,nssv14489949,nssv14489482,nssv14472110 M 14 0 7 CAMTA1 CHM1,HG00268,HG00514,HG01352,HG02818,HG04217,NA19434 esv1124399 1 7174845 7175286 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4044198 M 2 0 1 CAMTA1 HuRef esv2740806 1 7174997 7175059 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961535 M 96 0 1 CAMTA1 SSM027 esv3679859 1 7175111 7175701 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501078 M 20 0 1 CAMTA1 esv2740917 1 7175202 7175508 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6696981,essv6859172,essv6669110,essv6888994,essv6668923,essv6703850 M 96 0 6 CAMTA1 SSM005,SSM031,SSM038,SSM040,SSM088,SSM097 esv2741028 1 7175354 7175695 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6682815,essv6876632,essv6839959,essv6718155,essv6710568,essv6714229,essv6784981,essv6859173,essv6753481,essv6846995,essv6810333,essv6892307,essv6789135,essv6750585,essv6703851,essv6863943,essv6961536 M 96 0 17 CAMTA1 SSM012,SSM027,SSM034,SSM040,SSM042,SSM043,SSM044,SSM057,SSM058,SSM069,SSM070,SSM076,SSM084,SSM086,SSM088,SSM089,SSM098 nsv3325857 1 7175595 7175647 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14801930 M 14 0 1 CAMTA1 HX1 nsv3324757 1 7175602 7175700 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14801230,nssv14802909,nssv14799690,nssv14799187,nssv14801189,nssv14796561,nssv14804870 M 14 0 7 CAMTA1 CHM1,HG00268,HG00514,HG01352,HG02818,HG04217,NA19434 esv2741139 1 7175622 7175693 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6846995,essv6972314,essv6961536 M 96 0 3 CAMTA1 SSM027,SSM029,SSM086 nsv1124184 1 7175666 7175757 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975494 M 2 0 1 CAMTA1 KWS1 nsv4035940 1 7177176 7188821 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855149 M 10847 0 1 CAMTA1 nsv462394 1 7186325 7231484 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538567 M 1557 0 1 CAMTA1 HGDP00797 nsv545299 1 7186325 7231484 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173656 M 17421 0 1 CAMTA1 HGDP00797 esv3585118 1 7189807 7198688 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846569 M 2504 0 1 CAMTA1 NA19309 nsv4045674 1 7190197 7191214 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962960 M 10847 1 0 CAMTA1 nsv4044403 1 7192394 7194394 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855158 M 10847 0 1 CAMTA1 esv3585119 1 7196138 7197576 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846570 M 2504 0 1 CAMTA1 HG02147 nsv4462272 1 7201391 7201392 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024263 M 10847 1 0 CAMTA1 esv3679948 1 7237447 7237595 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501158 M 20 0 1 CAMTA1 nsv4535122 1 7242035 7242036 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024273 M 10847 1 0 CAMTA1 nsv4040879 1 7263566 7264268 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855175 M 10847 0 1 CAMTA1 nsv4462029 1 7272525 7272526 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024284 M 10847 1 0 CAMTA1 nsv4042979 1 7290886 7291202 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855189 M 10847 0 1 CAMTA1 nsv4462280 1 7294090 7294091 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024296 M 10847 1 0 CAMTA1 nsv4462283 1 7307006 7307007 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024304 M 10847 1 0 CAMTA1 nsv4563819 1 7307286 7307287 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788855 M 10847 0 0 CAMTA1 nsv476621 1 7320485 7320485 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013335 M 9 1 0 CAMTA1 NA12878 nsv4462427 1 7320554 7320555 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024313 M 10847 1 0 CAMTA1 dgv10e212 1 7321611 7331314 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577715,esv3577714 M 873 0 2 CAMTA1 401566DD,401908YM esv275496 1 7324468 7325408 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2586154 M 1250 0 1 CAMTA1 nsv4462285 1 7324621 7324622 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023625 M 10847 1 0 CAMTA1 nsv4036665 1 7326257 7326458 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855198 M 10847 0 1 CAMTA1 nsv4462286 1 7334286 7334287 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023634 M 10847 1 0 CAMTA1 esv3585122 1 7352610 7374350 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846667 M 2504 0 1 CAMTA1 HG01883 nsv4044543 1 7352638 7374390 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855222 M 10847 0 1 CAMTA1 nsv1116585 1 7370655 7370707 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978769 M 2 1 0 CAMTA1 KWS2 esv3541122 1 7397569 7397626 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9739869 M 767 0 1 CAMTA1 nsv4536447 1 7398079 7398080 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026042 M 10847 1 0 CAMTA1 nsv4033302 1 7399735 7399850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855230 M 10847 0 1 CAMTA1 nsv1001550 1 7400404 7452010 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3480881 M 29084 1 0 CAMTA1 nsv1410 1 7415626 7439988 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1411 M 9 1 0 CAMTA1 NA19240 nsv4046291 1 7420000 7420582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855239 M 10847 0 1 CAMTA1 nsv4044712 1 7420935 7444816 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962966 M 10847 1 0 CAMTA1 nsv3325195 1 7428228 7428387 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477301 M 14 0 1 CAMTA1 HG04217 nsv4047395 1 7438137 7439402 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855248 M 10847 0 1 CAMTA1 nsv955211 1 7445001 7450800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001678 M 1 0 1 CAMTA1 BILGI_BIOE nsv4044566 1 7445272 7452379 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855470 M 10847 0 1 CAMTA1 nsv4039810 1 7452445 7456892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855489 M 10847 0 1 CAMTA1 nsv4038679 1 7454681 7454897 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855499 M 10847 0 1 CAMTA1 nsv4034879 1 7456790 7488006 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962973 M 10847 1 0 CAMTA1 nsv955212 1 7463401 7469300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001689 M 1 0 1 CAMTA1 BILGI_BIOE nsv955213 1 7477301 7581800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001700 M 1 0 1 CAMTA1 BILGI_BIOE esv3585123 1 7481066 7503506 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846668 M 2504 1 0 CAMTA1 HG03615 esv2666029 1 7483023 7486286 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6179805,essv6204851 M 1151 0 2 CAMTA1 NA19455,NA19472 nsv4033342 1 7483023 7486286 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855509 M 10847 0 1 CAMTA1 nsv527338 1 7483046 7486317 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703764 M 2026 0 1 CAMTA1 esv3585124 1 7483051 7486289 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846669,essv9846672,essv9846671,essv9846670,essv9846673 M 2504 0 5 CAMTA1 HG02643,NA19036,NA19455,NA19472,NA20359 esv3363193 1 7486206 7486290 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674084 M 185 1 0 CAMTA1 NA19238 nsv4534736 1 7486239 7486240 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026052 M 10847 1 0 CAMTA1 esv3345755 1 7486240 7486259 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593491 M 185 1 0 CAMTA1 NA19141 esv3304817 1 7486241 7486242 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 7486248 7486264 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 7491357 7671673 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442584,nssv1442562,nssv1442551,nssv1442573 M 95 1 3 CAMTA1 nsv4035454 1 7496689 7505090 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855517 M 10847 0 1 CAMTA1 nsv4046629 1 7499990 7501530 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855527 M 10847 0 1 CAMTA1 nsv4557223 1 7503089 7503987 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788865 M 10847 0 0 CAMTA1 nsv522589 1 7507642 7519264 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705976 M 2026 0 1 CAMTA1 nsv518903 1 7513025 7518698 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696361 M 2026 0 1 CAMTA1 esv2741250 1 7516973 7517136 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954721 M 96 0 1 CAMTA1 SSM026 esv2741361 1 7533944 7534581 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6933293,essv6883248,essv6950536,essv6967915,essv6747763,essv6742125,essv6759028,essv6972315,essv6816570,essv6853216,essv6748165,essv6753482,essv6756540,essv6750587 M 96 0 14 CAMTA1 SSM008,SSM021,SSM025,SSM028,SSM029,SSM053,SSM056,SSM057,SSM058,SSM059,SSM061,SSM078,SSM087,SSM095 esv3680014 1 7534195 7534286 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501217 M 20 0 1 CAMTA1 nsv3325197 1 7534197 7534286 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14798018,nssv14798322,nssv14795959 M 14 0 3 CAMTA1 CHM1,HG02818,HX1 nsv1153960 1 7534267 7534327 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003234 M 1 0 1 CAMTA1 KWB1 nsv3325198 1 7534301 7534391 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482400,nssv14490314 M 14 0 2 CAMTA1 HG04217,NA19434 esv3394495 1 7539665 7541163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692404 M 185 1 0 CAMTA1 NA19240 nsv526782 1 7547212 7549488 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703134 M 2026 0 1 CAMTA1 esv3652374 1 7552915 7552915 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476340 M 20 1 0 CAMTA1 esv2661964 1 7552939 7553255 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5659994,essv6293916,essv5460735,essv6294946,essv5519409,essv6519373,essv5654342,essv5837134,essv5543317,essv6359806,essv5631811,essv5976416,essv5767850,essv5930148,essv5563441,essv6496652,essv5770295,essv6388199,essv5455258 M 1151 0 19 CAMTA1 HG00182,HG00268,NA07048,NA07346,NA12272,NA12348,NA12751,NA12775,NA18595,NA19068,NA20537,NA20581,NA20770,NA20773,NA20787,NA20796,NA20807,NA20826,NA20828 esv2647714 1 7552972 7553235 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5309036 M 1 0 1 CAMTA1 NA18507 nsv1133802 1 7553097 7553154 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969372 M 2 0 1 CAMTA1 KWS2 esv3680116 1 7553301 7553368 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501308 M 20 0 1 CAMTA1 nsv1075104 1 7553377 7553437 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3773000 M 1 0 1 CAMTA1 KWP1 nsv1116586 1 7553390 7553445 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978770 M 2 1 0 CAMTA1 KWS2 esv1935214 1 7553390 7553700 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4549214 M 1 0 1 CAMTA1 NA18507 nsv1122289 1 7553432 7553541 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969740 M 2 0 1 CAMTA1 KWS2 nsv4040166 1 7556853 7567511 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855543 M 10847 0 1 CAMTA1 nsv527595 1 7557152 7567412 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704056 M 2026 0 1 CAMTA1 nsv545300 1 7557152 7567412 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709461 M 17421 0 1 CAMTA1 dgv34e59 1 7557465 7560763 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 7558265 7560463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692407 M 185 1 0 CAMTA1 NA19238 nsv4048241 1 7558312 7558413 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855554 M 10847 0 1 CAMTA1 nsv4046542 1 7558358 7558441 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963001 M 10847 1 0 CAMTA1 esv2741472 1 7558571 7561170 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946480,essv6902517,essv6859174,essv6821167,essv6710569,essv6950095,essv6836180,essv6686145,essv6910027,essv6921702,essv6784982,essv6913987,essv6895837,essv6972316,essv6937663,essv6954722,essv6941769,essv6898596,essv6898601,essv6668924,essv6753483,essv6925677,essv6925676,essv6937664,essv6937665 M 96 0 21 CAMTA1 SSM004,SSM013,SSM015,SSM016,SSM018,SSM019,SSM022,SSM023,SSM024,SSM026,SSM029,SSM031,SSM035,SSM042,SSM058,SSM069,SSM079,SSM083,SSM088,SSM099,SSM100 nsv1076053 1 7558757 7558811 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764099 M 1 0 1 CAMTA1 KWP1 nsv1113070 1 7558758 7558811 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967961 M 2 0 1 CAMTA1 KWS2 esv2741695 1 7558767 7558973 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6925676 M 96 0 1 CAMTA1 SSM019 dgv3e201 1 7558767 7559448 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2741583,esv2741806 M 96 0 5 CAMTA1 SSM015,SSM019,SSM022,SSM024,SSM069 esv3680146 1 7558868 7558932 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501335 M 20 0 1 CAMTA1 nsv1133804 1 7558972 7559103 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969374 M 2 0 1 CAMTA1 KWS2 nsv1140405 1 7558996 7559069 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979111 M 2 1 0 CAMTA1 KWS2 nsv1075528 1 7559025 7559103 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767800 M 1 0 1 CAMTA1 KWP1 nsv4033757 1 7559148 7559823 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965164 M 10847 1 0 CAMTA1 esv3680177 1 7559163 7559239 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501363 M 20 0 1 CAMTA1 esv2741917 1 7559176 7560063 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6902517,essv6821167,essv6710569,essv6950095,essv6686145,essv6836180,essv6921702,essv6753483,essv6895837,essv6898601,essv6898596,essv6668924,essv6941769,essv6925677,essv6937665,essv6937664 M 96 0 14 CAMTA1 SSM004,SSM013,SSM018,SSM019,SSM022,SSM023,SSM031,SSM035,SSM042,SSM058,SSM079,SSM083,SSM099,SSM100 nsv1144346 1 7559189 7559264 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995095 M 2 0 1 CAMTA1 KWS1 nsv3325199 1 7559441 7559441 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481916 M 14 1 0 CAMTA1 CHM1 esv2661908 1 7559443 7560192 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5529359,essv6482932,essv5814285,essv6387039,essv5575074,essv6124063,essv5788311,essv6041331,essv5516870,essv6550513,essv5583577,essv6114357,essv5730675,essv6413800,essv5457551,essv6576540,essv5709998,essv6268374,essv5436826,essv5851944,essv5739381,essv6256312,essv5508604,essv6566368,essv5663358,essv6427001,essv6226576,essv6243910,essv5997726,essv6453030,essv5974102,essv6542409,essv5880716,essv6241832,essv6037941,essv6242215,essv6515957,essv6544631,essv6323846,essv6483131,essv5975923,essv6249502,essv6052009,essv5962151,essv6337763,essv6338713,essv6002886,essv6486219,essv6345359,essv5840912,essv6539128,essv5922093,essv6273213,essv6221071,essv6067706,essv5850234,essv6276685,essv6557749,essv6248487,essv6277708 M 1151 0 60 CAMTA1 HG00106,HG00112,HG00123,HG00125,HG00239,HG00306,HG00418,HG00427,HG00512,HG00525,HG00566,HG00577,HG00580,HG00584,HG00595,HG00608,HG00654,HG00656,HG00663,HG00689,HG00692,HG00702,HG00704,HG00705,HG00707,HG01051,HG01075,HG01183,HG01440,NA11994,NA18549,NA18550,NA18593,NA18596,NA18615,NA18616,NA18623,NA18628,NA18634,NA18635,NA18961,NA18963,NA18984,NA19010,NA19074,NA19075,NA19077,NA19082,NA19130,NA19395,NA19434,NA19449,NA19453,NA19457,NA19684,NA19834,NA20518,NA20521,NA20586,NA20787 nsv1137723 1 7559452 7559525 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990230 M 2 0 1 CAMTA1 KWS2 nsv3325200 1 7559464 7559464 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478523 M 14 1 0 CAMTA1 CHM1 nsv1116587 1 7559523 7559600 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978771 M 2 1 0 CAMTA1 KWS2 nsv3325871 1 7559537 7559537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482342,nssv14478506 M 14 2 0 CAMTA1 HG00514,NA19434 nsv3324775 1 7559640 7559741 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473888,nssv14481310 M 14 0 2 CAMTA1 HG00514,NA19434 dgv20n166 1 7559762 7560492 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4517722,nsv4040594 M 10847 2 0 CAMTA1 nsv3325872 1 7559795 7559795 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472636 M 14 1 0 CAMTA1 HG01352 nsv1075533 1 7559802 7559854 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767620 M 1 0 1 CAMTA1 KWP1 nsv3325873 1 7559812 7559862 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474415 M 14 0 1 CAMTA1 CHM1 nsv3325874 1 7559916 7560079 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477314,nssv14473436,nssv14488942 M 14 0 3 CAMTA1 CHM1,HG00514,NA19434 nsv4041432 1 7559983 7562454 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855580 M 10847 0 1 CAMTA1 nsv3325201 1 7560248 7560248 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480435 M 14 1 0 CAMTA1 HG00733 esv3680215 1 7560339 7560419 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501398 M 20 0 1 CAMTA1 nsv3325514 1 7560340 7560340 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480456,nssv14472556 M 14 2 0 CAMTA1 NA19240,NA19434 nsv3325875 1 7560341 7560341 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472420 M 14 1 0 CAMTA1 HG02818 nsv3325876 1 7560380 7560380 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477552,nssv14480878,nssv14485623 M 14 3 0 CAMTA1 HG00268,HG01352,HG02059 nsv3325202 1 7560449 7560449 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490923 M 14 1 0 CAMTA1 NA12878 nsv826364 1 7566435 7567432 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1421439 M 31 1 0 CAMTA1 NA18997 nsv4050775 1 7567063 7567840 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855589 M 10847 0 1 CAMTA1 nsv545301 1 7567412 7571071 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709462 M 17421 0 1 CAMTA1 nsv7991 1 7568485 7571753 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv26894 M 31 1 0 CAMTA1 NA18860 esv28432 1 7569215 7571521 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 7569215 7571601 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420846 M 1 0 1 CAMTA1 NA10851 nsv826475 1 7569215 7571601 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1422357,nssv1425484,nssv1426370,nssv1427245,nssv1421440,nssv1438581,nssv1430329,nssv1428015,nssv1440113,nssv1431057,nssv1423943,nssv1424725,nssv1431790 M 31 0 13 CAMTA1 AK10,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18552,NA18564,NA18582,NA18973,NA18997 esv2592830 1 7569617 7572326 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5286155 M 1 0 1 CAMTA1 NA18507 dgv88n54 1 7569814 7571071 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545307,nsv545311,nsv545312,nsv545302,nsv545313 M 17421 0 11 CAMTA1 dgv89n54 1 7569814 7571463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545310,nsv545306,nsv545303,nsv545316 M 17421 0 91 CAMTA1 esv7233 1 7569814 7571766 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29674 M 1 0 0 CAMTA1 dgv90n54 1 7569814 7572262 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545304,nsv545305 M 17421 0 2 CAMTA1 nsv819302 1 7569818 7571415 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419290 M 2 0 1 CAMTA1 AK1 esv2190574 1 7569911 7571692 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4836092 M 1 0 1 CAMTA1 NA18507 dgv91n54 1 7569976 7571326 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545314,nsv545308,nsv545315,nsv545309 M 17421 0 11 CAMTA1 esv3541344 1 7569992 7571561 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740091 M 767 0 1 CAMTA1 esv3915 1 7570034 7571684 CNV loss Wang_et_al_2008 18987735 Sequencing essv26356 M 1 0 1 CAMTA1 YH esv2742028 1 7570043 7571536 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6883249,essv6669121,essv6902518,essv6933294,essv6744926,essv6832586,essv6682816,essv6692747,essv6759029,essv6821168,essv6776925,essv6742126,essv6800598,essv6710570,essv6885976,essv6718156,essv6686146,essv6769506,essv6895838,essv6916573,essv6910029,essv6816571,essv6950106,essv6748176,essv6921703,essv6853217,essv6888995,essv6784983,essv6773424,essv6804394,essv6972318,essv6789136,essv6766530,essv6898602,essv6954723,essv6675190,essv6668925,essv6695576,essv6703852,essv6780853,essv6925678,essv6707252,essv6874691,essv6753484,essv6961537,essv6738799,essv6917411 M 96 0 47 CAMTA1 SSM002,SSM003,SSM004,SSM005,SSM006,SSM008,SSM013,SSM015,SSM017,SSM018,SSM019,SSM021,SSM026,SSM027,SSM029,SSM031,SSM032,SSM034,SSM035,SSM037,SSM040,SSM041,SSM042,SSM044,SSM052,SSM053,SSM055,SSM058,SSM061,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM074,SSM078,SSM079,SSM082,SSM087,SSM092,SSM095,SSM096,SSM097,SSM099,SSM100 nsv1074663 1 7570070 7571526 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766869 M 1 0 1 CAMTA1 KWP1 esv3683290 1 7570071 7571524 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16468038 M 20 0 0 CAMTA1 dgv31n106 1 7570071 7571526 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1120975,nsv1134961,nsv1121065 M 2 0 1 CAMTA1 KWS2 esv2657512 1 7570071 7571526 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6597320,essv5450460,essv6535980,essv5497751,essv6527507,essv5429536,essv6575482,essv5399289,essv6536764,essv5461375,essv6561443,essv5636594,essv6543277,essv5465801,essv6542778,essv5732462,essv6544648,essv5552465,essv6542461,essv5622190,essv6538809,essv5658671,essv6578015,essv5503175,essv6572516,essv5412555,essv6538832,essv5687666,essv6595199,essv5568082,essv6581519,essv5727746,essv6548964,essv5717552,essv6564812,essv5612440,essv6528378,essv5428010,essv6544861,essv5646630,essv6577034,essv5630336,essv5898881,essv5589809,essv6460683,essv5596979,essv5826648,essv5559722,essv6063213,essv5420861,essv5891446,essv5675761,essv6387037,essv5421776,essv6085784,essv5621604,essv5774461,essv5605115,essv5793684,essv5692329,essv6149199,essv5559985,essv6100322,essv5602417,essv5790430,essv5576898,essv6392822,essv5507085,essv6464636,essv5537806,essv5833907,essv5522275,essv6189325,essv5397363,essv6497319,essv5621444,essv6399921,essv5489293,essv6290633,essv5703541,essv6118990,essv5440192,essv5825537,essv5686531,essv6099962,essv5620153,essv5796224,essv5482762,essv6413777,essv5609761,essv5928849,essv5505561,essv6295813,essv5499302,essv5931759,essv5648473,essv6418480,essv5433351,essv6418911,essv5511424,essv6419778,essv5631596,essv5961649,essv5404078,essv6146355,essv5542914,essv5927894,essv5618196,essv6424790,essv5432008,essv6109378,essv5445583,essv6431057,essv5621944,essv5841667,essv5506505,essv5799224,essv5479781,essv6281857,essv5536940,essv6436832,essv5597762,essv6438064,essv5446598,essv6438446,essv5500732,essv6495337,essv5708133,essv5781061,essv5431607,essv6442019,essv5598326,essv6148159,essv5647981,essv6442157,essv5433597,essv6445191,essv5691391,essv6445705,essv5430800,essv6447140,essv5556929,essv6449470,essv5957916,essv5927521,essv6453378,essv6133433,essv6014564,essv6291742,essv6294648,essv6292739,essv6465910,essv5887358,essv5896582,essv6253213,essv5950392,essv6018100,essv5800783,essv6053521,essv6491045,essv6483263,essv5902435,essv6298889,essv6460438,essv6069629,essv5766898,essv6301711,essv5924719,essv6231964,essv6303084,essv6303515,essv6303691,essv6287100,essv5875330,essv6308899,essv6004098,essv6068568,essv6310275,essv6027439,essv5815954,essv6228501,essv6515447,essv6315369,essv5798315,essv5771007,essv6075734,essv5744317,essv6204790,essv6090700,essv5829887,essv6317995,essv6246172,essv6193427,essv6030341,essv6207963,essv6160626,essv6039563,essv5771428,essv6119227,essv6081607,essv5998324,essv6325203,essv6325429,essv5823780,essv5863502,essv5830971,essv6214231,essv6199820,essv6506715,essv6127324,essv6193468,essv6123121,essv6083900,essv6332805,essv5913542,essv6242378,essv6169504,essv6496136,essv6266308,essv6009563,essv6278813,essv5981620,essv6260423,essv6007472,essv5908549,essv6288927,essv6061070,essv5883741,essv5853039,essv5818092,essv5863653,essv6049159,essv5902353,essv6481631,essv6506775,essv6057755,essv5978907,essv6160948,essv5898397,essv5922932,essv5858235,essv6354211,essv6458057,essv6458151,essv6354985,essv6069004,essv6286695,essv5966237,essv5898893,essv6046099,essv5754165,essv6134386,essv5806520,essv5979160,essv6514311,essv6233292,essv6015013,essv6363379,essv6363517,essv6364050,essv5819410,essv6253385,essv5876669,essv6366028,essv6366589,essv6216050,essv6367627,essv6519589,essv6086542,essv5921143,essv6372156,essv6044362,essv6471769,essv6016935,essv6171336,essv6013738,essv5852805,essv6041407,essv6376701,essv5973166,essv6271138,essv6377227,essv6233645,essv5942501,essv5778687,essv6167253,essv6135664,essv5749177,essv6385424,essv5888481,essv5909185,essv5971897,essv6202404 M 1151 0 293 CAMTA1 HG00096,HG00108,HG00111,HG00123,HG00137,HG00141,HG00145,HG00146,HG00149,HG00150,HG00177,HG00183,HG00185,HG00187,HG00188,HG00189,HG00244,HG00245,HG00246,HG00250,HG00257,HG00258,HG00259,HG00261,HG00263,HG00267,HG00270,HG00276,HG00281,HG00284,HG00309,HG00323,HG00324,HG00326,HG00329,HG00331,HG00334,HG00335,HG00337,HG00339,HG00357,HG00366,HG00372,HG00418,HG00422,HG00427,HG00428,HG00448,HG00463,HG00464,HG00472,HG00476,HG00478,HG00500,HG00501,HG00512,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00554,HG00556,HG00557,HG00560,HG00566,HG00577,HG00584,HG00589,HG00590,HG00595,HG00596,HG00608,HG00628,HG00641,HG00650,HG00653,HG00654,HG00656,HG00657,HG00663,HG00689,HG00692,HG00693,HG00698,HG00702,HG00704,HG00705,HG00707,HG00731,HG00740,HG01047,HG01061,HG01067,HG01072,HG01073,HG01080,HG01082,HG01083,HG01094,HG01107,HG01125,HG01137,HG01168,HG01170,HG01171,HG01174,HG01188,HG01334,HG01342,HG01375,HG01461,HG01497,HG01521,NA06986,NA06989,NA07000,NA07056,NA07346,NA10851,NA11829,NA11843,NA11894,NA11933,NA11993,NA11995,NA12044,NA12058,NA12155,NA12249,NA12272,NA12275,NA12282,NA12286,NA12341,NA12348,NA12414,NA12716,NA12748,NA12750,NA12751,NA12761,NA12763,NA12776,NA12778,NA12878,NA12889,NA12891,NA18507,NA18516,NA18543,NA18545,NA18546,NA18549,NA18550,NA18552,NA18553,NA18557,NA18561,NA18564,NA18565,NA18570,NA18571,NA18574,NA18576,NA18577,NA18579,NA18582,NA18593,NA18596,NA18597,NA18603,NA18608,NA18612,NA18613,NA18616,NA18618,NA18622,NA18623,NA18632,NA18633,NA18634,NA18635,NA18637,NA18638,NA18910,NA18917,NA18940,NA18961,NA18963,NA18971,NA18973,NA18974,NA18976,NA18982,NA18984,NA18985,NA18986,NA18989,NA18990,NA19002,NA19003,NA19004,NA19005,NA19012,NA19054,NA19055,NA19056,NA19058,NA19059,NA19064,NA19065,NA19066,NA19070,NA19074,NA19075,NA19077,NA19082,NA19083,NA19087,NA19107,NA19129,NA19172,NA19201,NA19347,NA19380,NA19382,NA19383,NA19399,NA19428,NA19429,NA19443,NA19455,NA19456,NA19461,NA19463,NA19470,NA19648,NA19652,NA19660,NA19661,NA19663,NA19670,NA19678,NA19681,NA19716,NA19717,NA19719,NA19762,NA19773,NA19776,NA19782,NA19783,NA19900,NA19904,NA19917,NA20291,NA20340,NA20344,NA20502,NA20507,NA20516,NA20524,NA20525,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20540,NA20541,NA20542,NA20586,NA20588,NA20589,NA20754,NA20761,NA20765,NA20769,NA20771,NA20778,NA20801,NA20804,NA20807,NA20808,NA20811,NA20812,NA20816,NA20818,NA20826 nsv4048677 1 7570071 7571526 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855598 M 10847 0 1 CAMTA1 nsv3325878 1 7570073 7571512 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481593,nssv14478448,nssv14475520 M 14 0 3 CAMTA1 HG00514,HG02059,NA12878 nsv958568 1 7570074 7571485 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3004927 M 1 0 1 CAMTA1 BILGI_BIOE esv3585126 1 7570074 7571521 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847396,essv9847395,essv9846828,essv9846827,essv9846826,essv9846825,essv9846760,essv9846759,essv9846749,essv9846758,essv9846748,essv9846747,essv9846746,essv9846752,essv9846757,essv9846751,essv9846750,essv9846753,essv9846756,essv9846755,essv9846754,essv9846791,essv9846774,essv9846765,essv9846824,essv9846764,essv9846762,essv9846761,essv9846763,essv9846768,essv9846766,essv9846773,essv9846767,essv9846772,essv9846769,essv9846771,essv9846770,essv9846776,essv9846781,essv9846775,essv9846790,essv9846780,essv9846777,essv9846779,essv9846778,essv9846784,essv9846789,essv9846783,essv9846782,essv9846788,essv9846785,essv9846787,essv9846786,essv9846806,essv9846797,essv9846823,essv9846796,essv9846793,essv9846792,essv9846795,essv9846794,essv9846805,essv9846800,essv9846799,essv9846798,essv9846801,essv9846804,essv9846803,essv9846802,essv9846822,essv9846813,essv9846808,essv9846807,essv9846812,essv9846809,essv9846811,essv9846810,essv9846816,essv9846821,essv9846815,essv9846814,essv9846817,essv9846820,essv9846819,essv9846818,essv9846829,essv9846853,essv9847080,essv9846951,essv9846836,essv9846886,essv9846831,essv9846830,essv9846835,essv9846834,essv9846833,essv9846832,essv9846838,essv9847300,essv9846852,essv9846843,essv9847394,essv9846837,essv9847338,essv9846839,essv9846842,essv9846841,essv9846840,essv9846846,essv9846851,essv9846845,essv9846844,essv9846847,essv9846850,essv9846849,essv9846848,essv9846859,essv9846854,essv9846868,essv9846885,essv9846858,essv9846855,essv9846857,essv9846856,essv9846862,essv9846867,essv9846861,essv9846860,essv9846863,essv9846866,essv9846865,essv9846864,essv9846875,essv9846870,essv9846884,essv9846869,essv9846874,essv9846871,essv9846873,essv9846872,essv9846878,essv9846883,essv9846877,essv9846876,essv9846879,essv9846882,essv9846881,essv9846880,essv9846891,essv9846950,essv9846887,essv9846917,essv9846890,essv9846900,essv9846889,essv9846888,essv9846894,essv9846899,essv9846893,essv9846892,essv9846898,essv9846895,essv9846897,essv9846896,essv9846916,essv9846907,essv9846902,essv9846901,essv9846906,essv9846903,essv9846905,essv9846904,essv9846910,essv9846915,essv9846909,essv9846908,essv9846914,essv9846911,essv9846913,essv9846912,essv9846949,essv9846918,essv9846932,essv9846923,essv9846922,essv9846919,essv9846921,essv9846920,essv9846926,essv9846931,essv9846925,essv9846924,essv9846927,essv9846930,essv9846929,essv9846928,essv9846939,essv9846934,essv9846948,essv9846933,essv9846938,essv9846935,essv9846937,essv9846936,essv9846942,essv9846947,essv9846941,essv9846940,essv9846943,essv9846946,essv9846945,essv9846944,essv9846964,essv9846955,essv9847079,essv9846952,essv9846954,essv9846981,essv9846953,essv9847014,essv9846963,essv9846958,essv9846957,essv9846956,essv9846959,essv9846962,essv9846961,essv9846960,essv9846966,essv9846980,essv9846971,essv9846965,essv9846970,essv9846967,essv9846969,essv9846968,essv9846974,essv9846979,essv9846973,essv9846972,essv9846975,essv9846978,essv9846977,essv9846976,essv9846982,essv9847013,essv9846987,essv9846996,essv9846983,essv9846986,essv9846985,essv9846984,essv9846995,essv9846990,essv9846989,essv9846988,essv9846991,essv9846994,essv9846993,essv9846992,essv9846997,essv9846998,essv9847003,essv9847012,essv9847002,essv9846999,essv9847001,essv9847000,essv9847004,essv9847011,essv9847006,essv9847005,essv9847007,essv9847010,essv9847009,essv9847008,essv9847045,essv9847019,essv9847028,essv9847018,essv9847015,essv9847078,essv9847017,essv9847016,essv9847022,essv9847027,essv9847021,essv9847020,essv9847026,essv9847023,essv9847025,essv9847024,essv9847035,essv9847030,essv9847044,essv9847029,essv9847034,essv9847031,essv9847033,essv9847032,essv9847038,essv9847043,essv9847037,essv9847036,essv9847039,essv9847042,essv9847041,essv9847040,essv9847046,essv9847077,essv9847060,essv9847051,essv9847047,essv9847050,essv9847049,essv9847048,essv9847054,essv9847059,essv9847053,essv9847052,essv9847058,essv9847055,essv9847057,essv9847056,essv9847067,essv9847062,essv9847061,essv9847076,essv9847066,essv9847063,essv9847065,essv9847064,essv9847068,essv9847075,essv9847070,essv9847069,essv9847074,essv9847071,essv9847073,essv9847072,essv9847141,essv9847091,essv9847108,essv9847090,essv9847085,essv9847082,essv9847081,essv9847206,essv9847083,essv9847084,essv9847299,essv9847337,essv9847086,essv9847089,essv9847088,essv9847087,essv9847098,essv9847093,essv9847092,essv9847107,essv9847094,essv9847097,essv9847096,essv9847095,essv9847101,essv9847106,essv9847100,essv9847099,essv9847105,essv9847102,essv9847104,essv9847103,essv9847109,essv9847123,essv9847114,essv9847140,essv9847110,essv9847113,essv9847112,essv9847111,essv9847117,essv9847122,essv9847116,essv9847115,essv9847118,essv9847121,essv9847120,essv9847119,essv9847125,essv9847130,essv9847139,essv9847124,essv9847126,essv9847129,essv9847128,essv9847127,essv9847133,essv9847138,essv9847132,essv9847131,essv9847134,essv9847137,essv9847136,essv9847135,essv9847146,essv9847155,essv9847145,essv9847144,essv9847143,essv9847142,essv9847172,essv9847205,essv9847154,essv9847149,essv9847148,essv9847147,essv9847153,essv9847150,essv9847152,essv9847151,essv9847171,essv9847162,essv9847157,essv9847156,essv9847161,essv9847158,essv9847160,essv9847159,essv9847165,essv9847163,essv9847170,essv9847164,essv9847166,essv9847169,essv9847168,essv9847167,essv9847173,essv9847204,essv9847178,essv9847187,essv9847177,essv9847174,essv9847176,essv9847175,essv9847181,essv9847186,essv9847180,essv9847179,essv9847185,essv9847182,essv9847184,essv9847183,essv9847189,essv9847188,essv9847203,essv9847194,essv9847193,essv9847190,essv9847191,essv9847192,essv9847197,essv9847202,essv9847196,essv9847195,essv9847198,essv9847201,essv9847200,essv9847199,essv9847336,essv9847218,essv9847298,essv9847208,essv9847207,essv9847268,essv9847235,essv9847212,essv9847209,essv9847217,essv9847211,essv9847210,essv9847216,essv9847213,essv9847215,essv9847214,essv9847220,essv9847225,essv9847219,essv9847234,essv9847224,essv9847221,essv9847223,essv9847222,essv9847228,essv9847226,essv9847233,essv9847227,essv9847232,essv9847229,essv9847230,essv9847231,essv9847267,essv9847250,essv9847236,essv9847241,essv9847237,essv9847240,essv9847239,essv9847238,essv9847244,essv9847242,essv9847249,essv9847243,essv9847248,essv9847245,essv9847247,essv9847246,essv9847266,essv9847257,essv9847251,essv9847252,essv9847256,essv9847253,essv9847255,essv9847254,essv9847260,essv9847265,essv9847259,essv9847258,essv9847261,essv9847264,essv9847263,essv9847262,essv9847280,essv9847297,essv9847296,essv9847274,essv9847335,essv9847270,essv9847302,essv9847269,essv9847273,essv9847272,essv9847279,essv9847271,essv9847278,essv9847275,essv9847277,essv9847276,essv9847286,essv9847295,essv9847281,essv9847301,essv9847282,essv9847285,essv9847284,essv9847283,essv9847289,essv9847294,essv9847288,essv9847287,essv9847290,essv9847293,essv9847292,essv9847291,essv9847303,essv9847308,essv9847317,essv9847334,essv9847304,essv9847307,essv9847306,essv9847305,essv9847311,essv9847316,essv9847310,essv9847309,essv9847312,essv9847315,essv9847314,essv9847313,essv9847319,essv9847324,essv9847318,essv9847333,essv9847323,essv9847320,essv9847322,essv9847321,essv9847327,essv9847332,essv9847326,essv9847325,essv9847328,essv9847331,essv9847330,essv9847329,essv9847343,essv9847344,essv9847391,essv9847359,essv9847392,essv9847390,essv9847362,essv9847340,essv9847393,essv9847342,essv9847402,essv9847467,essv9847341,essv9847339,essv9847349,essv9847358,essv9847350,essv9847361,essv9847348,essv9847346,essv9847345,essv9847347,essv9847357,essv9847352,essv9847360,essv9847351,essv9847356,essv9847354,essv9847353,essv9847355,essv9847365,essv9847369,essv9847376,essv9847366,essv9847389,essv9847401,essv9847364,essv9847363,essv9847370,essv9847367,essv9847368,essv9847375,essv9847374,essv9847371,essv9847373,essv9847372,essv9847400,essv9847388,essv9847382,essv9847377,essv9847381,essv9847378,essv9847380,essv9847379,essv9847387,essv9847384,essv9847399,essv9847383,essv9847386,essv9847398,essv9847385,essv9847397,essv9847433,essv9847416,essv9847407,essv9847406,essv9847403,essv9847466,essv9847405,essv9847404,essv9847415,essv9847410,essv9847409,essv9847408,essv9847414,essv9847411,essv9847413,essv9847412,essv9847423,essv9847418,essv9847417,essv9847432,essv9847419,essv9847422,essv9847421,essv9847420,essv9847426,essv9847431,essv9847425,essv9847424,essv9847430,essv9847427,essv9847429,essv9847428,essv9847448,essv9847439,essv9847434,essv9847465,essv9847438,essv9847435,essv9847437,essv9847436,essv9847442,essv9847447,essv9847441,essv9847440,essv9847446,essv9847443,essv9847445,essv9847444,essv9847455,essv9847450,essv9847449,essv9847464,essv9847454,essv9847451,essv9847453,essv9847452,essv9847458,essv9847457,essv9847456,essv9847463,essv9847459,essv9847462,essv9847461,essv9847460,essv9847473,essv9847474,essv9847468,essv9847472,essv9847471,essv9847469,essv9847470,essv9847475,essv9847476 M 2504 0 731 CAMTA1 HG00096,HG00097,HG00108,HG00110,HG00111,HG00113,HG00118,HG00123,HG00127,HG00129,HG00130,HG00137,HG00141,HG00145,HG00146,HG00149,HG00150,HG00177,HG00183,HG00185,HG00187,HG00188,HG00189,HG00238,HG00240,HG00244,HG00245,HG00246,HG00250,HG00257,HG00258,HG00259,HG00261,HG00263,HG00267,HG00276,HG00281,HG00284,HG00304,HG00309,HG00323,HG00324,HG00326,HG00329,HG00331,HG00332,HG00334,HG00335,HG00337,HG00339,HG00349,HG00350,HG00351,HG00356,HG00357,HG00360,HG00365,HG00366,HG00368,HG00371,HG00372,HG00376,HG00382,HG00410,HG00422,HG00428,HG00446,HG00448,HG00452,HG00463,HG00464,HG00472,HG00476,HG00478,HG00500,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00554,HG00556,HG00557,HG00560,HG00566,HG00584,HG00589,HG00590,HG00595,HG00596,HG00598,HG00608,HG00628,HG00634,HG00637,HG00641,HG00650,HG00653,HG00654,HG00656,HG00657,HG00663,HG00674,HG00675,HG00689,HG00692,HG00693,HG00698,HG00704,HG00705,HG00707,HG00717,HG00731,HG00740,HG00844,HG00867,HG00956,HG00982,HG01028,HG01046,HG01047,HG01049,HG01061,HG01067,HG01072,HG01073,HG01080,HG01082,HG01083,HG01085,HG01088,HG01094,HG01104,HG01105,HG01107,HG01125,HG01130,HG01137,HG01148,HG01161,HG01168,HG01170,HG01171,HG01174,HG01177,HG01188,HG01200,HG01259,HG01280,HG01323,HG01334,HG01341,HG01342,HG01375,HG01392,HG01395,HG01405,HG01413,HG01414,HG01461,HG01497,HG01503,HG01504,HG01518,HG01521,HG01525,HG01528,HG01530,HG01531,HG01566,HG01577,HG01593,HG01597,HG01600,HG01602,HG01603,HG01606,HG01612,HG01615,HG01617,HG01624,HG01628,HG01630,HG01632,HG01668,HG01669,HG01670,HG01673,HG01675,HG01676,HG01679,HG01682,HG01686,HG01695,HG01699,HG01708,HG01757,HG01762,HG01766,HG01767,HG01775,HG01776,HG01777,HG01784,HG01785,HG01797,HG01801,HG01802,HG01804,HG01805,HG01807,HG01810,HG01813,HG01817,HG01840,HG01845,HG01846,HG01847,HG01848,HG01849,HG01850,HG01852,HG01857,HG01858,HG01859,HG01862,HG01864,HG01865,HG01867,HG01869,HG01871,HG01872,HG01874,HG01878,HG01920,HG01932,HG01933,HG01944,HG01977,HG01985,HG02016,HG02017,HG02019,HG02020,HG02025,HG02028,HG02032,HG02040,HG02047,HG02049,HG02050,HG02060,HG02061,HG02069,HG02072,HG02073,HG02076,HG02078,HG02081,HG02082,HG02084,HG02085,HG02086,HG02087,HG02089,HG02113,HG02122,HG02127,HG02128,HG02130,HG02133,HG02136,HG02138,HG02140,HG02144,HG02151,HG02152,HG02154,HG02155,HG02156,HG02164,HG02165,HG02166,HG02178,HG02181,HG02185,HG02186,HG02190,HG02233,HG02235,HG02236,HG02250,HG02253,HG02259,HG02283,HG02291,HG02334,HG02353,HG02355,HG02356,HG02360,HG02364,HG02371,HG02373,HG02374,HG02375,HG02379,HG02380,HG02382,HG02384,HG02385,HG02389,HG02390,HG02391,HG02392,HG02394,HG02396,HG02397,HG02398,HG02399,HG02402,HG02406,HG02407,HG02425,HG02427,HG02439,HG02450,HG02462,HG02470,HG02490,HG02493,HG02494,HG02497,HG02501,HG02508,HG02522,HG02536,HG02541,HG02554,HG02558,HG02585,HG02601,HG02620,HG02629,HG02645,HG02648,HG02657,HG02658,HG02661,HG02667,HG02690,HG02691,HG02731,HG02736,HG02774,HG02778,HG02805,HG02810,HG02836,HG02870,HG02878,HG02881,HG02885,HG02952,HG03006,HG03016,HG03048,HG03057,HG03077,HG03082,HG03111,HG03172,HG03228,HG03229,HG03237,HG03241,HG03258,HG03265,HG03376,HG03385,HG03432,HG03478,HG03479,HG03488,HG03515,HG03594,HG03603,HG03607,HG03611,HG03615,HG03624,HG03629,HG03644,HG03645,HG03667,HG03672,HG03684,HG03687,HG03691,HG03697,HG03711,HG03714,HG03716,HG03727,HG03740,HG03745,HG03746,HG03754,HG03757,HG03762,HG03765,HG03770,HG03771,HG03780,HG03784,HG03792,HG03802,HG03803,HG03805,HG03808,HG03814,HG03823,HG03826,HG03833,HG03836,HG03837,HG03846,HG03850,HG03857,HG03858,HG03867,HG03872,HG03873,HG03888,HG03895,HG03897,HG03913,HG03917,HG03925,HG03928,HG03931,HG03934,HG03941,HG03945,HG03947,HG03950,HG03960,HG03963,HG03971,HG03976,HG03985,HG03998,HG04001,HG04003,HG04019,HG04061,HG04062,HG04090,HG04093,HG04094,HG04107,HG04118,HG04140,HG04141,HG04146,HG04152,HG04155,HG04156,HG04159,HG04173,HG04176,HG04183,HG04185,HG04186,HG04195,HG04198,HG04200,HG04202,HG04209,HG04211,HG04212,HG04222,HG04225,HG04227,NA06986,NA06989,NA06994,NA07000,NA07056,NA10851,NA11829,NA11840,NA11843,NA11893,NA11894,NA11933,NA11995,NA12044,NA12058,NA12155,NA12249,NA12272,NA12275,NA12282,NA12286,NA12341,NA12348,NA12414,NA12716,NA12748,NA12750,NA12751,NA12761,NA12763,NA12776,NA12778,NA12872,NA12873,NA12874,NA12878,NA12889,NA18507,NA18543,NA18545,NA18546,NA18549,NA18550,NA18552,NA18553,NA18557,NA18561,NA18564,NA18565,NA18570,NA18571,NA18574,NA18577,NA18579,NA18582,NA18593,NA18596,NA18597,NA18603,NA18608,NA18612,NA18613,NA18616,NA18618,NA18622,NA18623,NA18629,NA18632,NA18633,NA18634,NA18635,NA18637,NA18638,NA18639,NA18641,NA18644,NA18645,NA18646,NA18648,NA18740,NA18747,NA18865,NA18910,NA18917,NA18934,NA18940,NA18946,NA18954,NA18957,NA18961,NA18963,NA18965,NA18966,NA18971,NA18973,NA18974,NA18976,NA18979,NA18982,NA18984,NA18985,NA18986,NA18989,NA18991,NA18992,NA18993,NA18994,NA18995,NA18997,NA19002,NA19003,NA19004,NA19005,NA19012,NA19020,NA19023,NA19038,NA19041,NA19054,NA19055,NA19056,NA19058,NA19059,NA19064,NA19065,NA19066,NA19070,NA19074,NA19075,NA19077,NA19082,NA19083,NA19086,NA19087,NA19089,NA19095,NA19107,NA19119,NA19129,NA19171,NA19172,NA19201,NA19204,NA19316,NA19320,NA19324,NA19338,NA19347,NA19380,NA19383,NA19399,NA19428,NA19429,NA19443,NA19455,NA19456,NA19461,NA19463,NA19648,NA19652,NA19663,NA19670,NA19678,NA19681,NA19716,NA19717,NA19719,NA19741,NA19750,NA19762,NA19764,NA19773,NA19776,NA19782,NA19783,NA19786,NA19794,NA19900,NA19904,NA19913,NA19917,NA20282,NA20291,NA20339,NA20340,NA20412,NA20502,NA20507,NA20516,NA20524,NA20525,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20540,NA20541,NA20542,NA20586,NA20588,NA20589,NA20754,NA20761,NA20762,NA20765,NA20769,NA20771,NA20778,NA20801,NA20804,NA20807,NA20808,NA20811,NA20812,NA20818,NA20826,NA20846,NA20849,NA20858,NA20862,NA20866,NA20882,NA20894,NA20897,NA20900,NA20901,NA20905,NA20906,NA21087,NA21095,NA21098,NA21104,NA21105,NA21107,NA21108,NA21109,NA21110,NA21115,NA21119,NA21120,NA21130,NA21135,NA21141 dgv92n54 1 7570076 7571996 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545326,nsv545330,nsv545334,nsv545317,nsv545323,nsv545332 M 17421 0 14 CAMTA1 dgv10n67 1 7570223 7571392 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv826586,nsv826697 M 31 2 0 CAMTA1 NA18968,NA18969 dgv93n54 1 7570232 7571071 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545318,nsv545319 M 17421 0 6 CAMTA1 dgv94n54 1 7570232 7571463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545331,nsv545325,nsv545322,nsv545324,nsv545329,nsv545328,nsv545321,nsv545320,nsv545327 M 17421 0 36 CAMTA1 nsv545333 1 7570560 7571463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709639,nssv709638,nssv709637,nssv709636,nssv709635,nssv709632,nssv709633,nssv709634 M 17421 0 8 CAMTA1 nsv545335 1 7570560 7575666 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709642 M 17421 0 1 CAMTA1 nsv826808 1 7570563 7571143 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436326 M 31 1 0 CAMTA1 NA18542 esv2758918 1 7571463 7688059 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756834 M 270 1 0 CAMTA1 NA19152 nsv1116484 1 7571471 7571526 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3978665 M 2 0 0 CAMTA1 KWS2 nsv1115335 1 7574000 7580100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976387 M 2 1 0 CAMTA1 KWS2 esv3652756 1 7575212 7575212 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476684 M 20 1 0 CAMTA1 nsv4051960 1 7577645 7580269 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855608 M 10847 0 1 CAMTA1 esv23816 1 7577658 7579878 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15537 M 40 0 1 CAMTA1 NA18916 esv3310514 1 7579427 7580855 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 7580156 7580459 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625339 M 1 1 0 CAMTA1 1 esv3347816 1 7580205 7580416 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652098 M 185 1 0 CAMTA1 NA19240 nsv3325515 1 7580280 7580280 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489745,nssv14487761,nssv14485268,nssv14481776,nssv14477256,nssv14477617 M 14 6 0 CAMTA1 CHM13,HG00268,HG02106,HG02818,HG04217,NA19240 nsv3325204 1 7580288 7580288 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490994 M 14 1 0 CAMTA1 HG02059 nsv1115336 1 7580400 7584600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976388 M 2 1 0 CAMTA1 KWS2 nsv4033057 1 7585395 7604408 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853411 M 10847 0 1 CAMTA1 nsv4042801 1 7589430 7589509 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853421 M 10847 0 1 CAMTA1 nsv4045283 1 7592065 7592141 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965198 M 10847 1 0 CAMTA1 nsv4032900 1 7592481 7592567 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853990 M 10847 0 1 CAMTA1 esv2742139 1 7602525 7602742 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692748,essv6793270,essv6729606,essv6839960,essv6714230,essv6937666,essv6789137,essv6797436,essv6843873,essv6784984,essv6941770,essv6913988,essv6718809,essv6871704,essv6725840,essv6853218,essv6892308,essv6972319,essv6668926,essv6703853,essv6828991,essv6780854 M 96 0 22 CAMTA1 SSM007,SSM016,SSM022,SSM023,SSM029,SSM031,SSM037,SSM040,SSM043,SSM046,SSM047,SSM068,SSM069,SSM070,SSM071,SSM072,SSM081,SSM084,SSM085,SSM087,SSM091,SSM098 esv3680337 1 7602613 7602676 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501507 M 20 0 1 CAMTA1 nsv3325879 1 7602615 7602676 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476537,nssv14479789,nssv14489804,nssv14480281,nssv14480223,nssv14480273,nssv14480115,nssv14480601,nssv14478003 M 14 0 9 CAMTA1 CHM1,CHM13,HG01352,HG02059,HG02818,HG04217,HX1,NA19240,NA19434 nsv1144347 1 7602633 7602695 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995096 M 2 0 1 CAMTA1 KWS1 esv2742250 1 7608346 7608668 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6789138 M 96 0 1 CAMTA1 SSM070 nsv4051855 1 7608482 7609025 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965209 M 10847 1 0 CAMTA1 esv2742361 1 7608482 7609151 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6824968,essv6929048,essv6813160,essv6729607,essv6950537,essv6686147,essv6748187,essv6972320,essv6961538,essv6954724,essv6668927,essv6703856,essv6703855 M 96 0 12 CAMTA1 SSM008,SSM020,SSM025,SSM026,SSM027,SSM029,SSM031,SSM035,SSM040,SSM047,SSM077,SSM080 esv2742472 1 7608526 7608680 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6729607 M 96 0 1 CAMTA1 SSM047 esv2742583 1 7608579 7608893 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6813160,essv6824968,essv6972320,essv6954724,essv6668927,essv6703855,essv6961538 M 96 0 7 CAMTA1 SSM026,SSM027,SSM029,SSM031,SSM040,SSM077,SSM080 nsv3324779 1 7608696 7609053 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483218,nssv14484738,nssv14487141,nssv14488667,nssv14479085 M 14 0 5 CAMTA1 HG00514,HG00733,HG02106,HX1,NA12878 esv2659209 1 7608707 7608988 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5598963,essv6171580,essv5767932,essv6381961,essv5552184,essv5945474,essv5596229,essv5974689,essv5484759,essv5833833,essv5408562,essv6483714,essv5734717,essv6425308,essv5463301,essv6560388,essv5424543,essv6197629,essv5606710,essv6448015,essv5712548,essv6449723,essv5467230,essv6508398,essv5706883,essv6454559,essv5758254,essv6456482,essv5731775,essv6227062,essv5621963,essv6292677,essv5420525,essv6296113,essv5502203,essv5859553,essv5706547,essv6011559,essv5425830,essv6521117,essv5479911,essv6307472,essv6023491,essv6202094,essv5780800,essv6332746,essv6047007,essv5869401,essv6177373,essv6491493,essv6082159,essv6002095,essv6181882,essv5843249,essv5922415,essv6363270,essv6364686,essv6209120,essv5867425,essv5969456,essv6046646,essv5830392,essv5818796,essv6370362,essv6259671,essv6481233,essv5777606,essv6308050,essv6134379,essv5897976,essv6172097 M 1151 0 71 CAMTA1 HG00111,HG00125,HG00154,HG00265,HG00277,HG00313,HG00319,HG00321,HG00323,HG00330,HG00342,HG00345,HG00369,HG00418,HG00427,HG00463,HG00475,HG00500,HG00512,HG00524,HG00534,HG00581,HG00589,HG00654,HG00657,HG00662,HG00671,HG00699,HG00701,HG00707,HG00708,HG01051,HG01052,HG01061,HG01067,HG01069,HG01070,HG01072,HG01079,HG01082,HG01102,HG01112,HG01251,HG01334,HG01354,HG01389,HG01437,HG01518,NA12829,NA12889,NA18530,NA18559,NA18563,NA18564,NA18595,NA18597,NA18602,NA18610,NA18635,NA18949,NA18956,NA19327,NA19663,NA19707,NA19731,NA19758,NA19762,NA19773,NA19785,NA19786,NA20299 esv3541455 1 7608713 7608994 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740202 M 767 0 1 CAMTA1 esv993163 1 7608732 7608958 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3579404 M 3 0 1 CAMTA1 HuRef esv3680380 1 7608732 7608960 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501546 M 20 0 1 CAMTA1 esv2742694 1 7608735 7609087 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6929048,essv6950537,essv6686147,essv6972320,essv6954724,essv6668927,essv6703856,essv6961538 M 96 0 8 CAMTA1 SSM020,SSM025,SSM026,SSM027,SSM029,SSM031,SSM035,SSM040 esv1611358 1 7608740 7608967 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860626 M 2 0 1 CAMTA1 HuRef esv2742806 1 7608742 7608969 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6686147,essv6972320,essv6954724,essv6668927,essv6961538 M 96 0 5 CAMTA1 SSM026,SSM027,SSM029,SSM031,SSM035 nsv955214 1 7609601 7749000 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001711 M 1 0 1 CAMTA1 BILGI_BIOE nsv4033075 1 7619315 7623184 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855617 M 10847 0 1 CAMTA1 nsv1011512 1 7622453 7666975 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696765 M 29084 0 1 CAMTA1 dgv35e59 1 7627565 7630163 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 nsv1153206 1 7627599 7630000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4001123 M 1 1 0 CAMTA1 KWB1 nsv1124559 1 7628000 7629900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976613 M 2 1 0 CAMTA1 KWS2 nsv1076313 1 7628199 7629700 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3769725 M 1 1 0 CAMTA1 KWP1 esv2764250 1 7630724 7635207 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004919,essv7004920 M 1109 0 2 CAMTA1 RW_0530,RW_0546 nsv4033115 1 7633588 7634165 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855626 M 10847 0 1 CAMTA1 nsv3325880 1 7634166 7634166 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474401,nssv14490966,nssv14474319,nssv14487731 M 14 4 0 CAMTA1 HG02818,HG04217,NA19240,NA19434 nsv4533820 1 7635929 7635930 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026069 M 10847 1 0 CAMTA1 nsv520077 1 7637979 7644802 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697212 M 2026 0 1 CAMTA1 nsv4051886 1 7639064 7641591 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856007 M 10847 0 1 CAMTA1 esv3585127 1 7645725 7648453 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847480,essv9847479,essv9847478,essv9847477,essv9847482,essv9847481,essv9847487,essv9847483,essv9847486,essv9847485,essv9847484,essv9847490,essv9847488,essv9847489,essv9847491,essv9847492 M 2504 0 16 CAMTA1 HG01247,HG01894,HG02433,HG02450,HG02485,HG02546,HG03136,NA19026,NA19035,NA19093,NA19374,NA19383,NA19399,NA19456,NA19916,NA20346 esv2672475 1 7645754 7648432 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6336025,essv5833909,essv6269373,essv6057115,essv5955720 M 1151 0 5 CAMTA1 NA19093,NA19374,NA19383,NA19399,NA19916 nsv4043935 1 7645756 7648432 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856018 M 10847 0 1 CAMTA1 nsv1132279 1 7662300 7664800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987046 M 2 1 0 CAMTA1 KWS1 nsv4033293 1 7665105 7669074 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856025 M 10847 0 1 CAMTA1 esv3680420 1 7673933 7674107 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501582 M 20 0 1 CAMTA1 nsv4461736 1 7674457 7674458 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026099 M 10847 1 0 CAMTA1 nsv4052159 1 7699420 7699525 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965227 M 10847 1 0 CAMTA1 nsv4034061 1 7702425 7703270 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856036 M 10847 0 1 CAMTA1 nsv3325887 1 7703010 7703270 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479939 M 14 0 1 CAMTA1 NA19240 nsv4033563 1 7703013 7703603 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856047 M 10847 0 1 CAMTA1 nsv4462793 1 7709182 7709183 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026108 M 10847 1 0 CAMTA1 nsv4041354 1 7710374 7711586 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856062 M 10847 0 1 CAMTA1 dgv36e59 1 7714465 7715963 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 7714607 7715690 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30546 M 1 0 0 CAMTA1 nsv1125168 1 7714969 7715026 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3977973 M 2 1 0 CAMTA1 KWS2 nsv1129456 1 7715013 7715115 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962910 M 2 1 0 CAMTA1 KWS1 esv1977744 1 7715032 7715386 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4674847 M 1 0 1 CAMTA1 NA18507 nsv4049027 1 7715133 7715659 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965237 M 10847 1 0 CAMTA1 nsv1137208 1 7715148 7715308 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975900 M 2 0 1 CAMTA1 KWS1 esv3585129 1 7740841 7743843 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847514,essv9847513,essv9847515,essv9847516 M 2504 0 4 CAMTA1 HG03681,HG03941,NA20847,NA21127 nsv4039029 1 7740892 7743733 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856071 M 10847 0 1 CAMTA1 nsv4032513 1 7742085 7790864 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965247 M 10847 1 0 CAMTA1 nsv4049560 1 7760180 7760234 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856080 M 10847 0 1 CAMTA1 esv28595 1 7763029 7765558 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13845 M 40 1 0 CAMTA1 NA06985 nsv545336 1 7763214 7765454 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709643 M 17421 0 1 CAMTA1 nsv1121746 1 7763900 7765000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968395 M 2 0 1 CAMTA1 KWS2 nsv953452 1 7764001 7767500 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001723 M 1 0 1 CAMTA1 BILGI_BIOE nsv1075535 1 7764099 7766100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771179 M 1 0 1 CAMTA1 KWP1 nsv4041389 1 7774863 7775593 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856087 M 10847 0 1 CAMTA1 nsv4047992 1 7775096 7781003 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856092 M 10847 0 1 CAMTA1 nsv4462059 1 7777111 7777112 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026137 M 10847 1 0 CAMTA1 esv3418854 1 7792078 7792089 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863673 M 185 1 0 CAMTA1 NA12005 esv3585130 1 7803121 7804431 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847519,essv9847518,essv9847517,essv9847522,essv9847520,essv9847527,essv9847521,essv9847523,essv9847526,essv9847525,essv9847524 M 2504 0 11 CAMTA1 HG01170,HG02610,HG03112,HG03127,NA19159,NA19198,NA19332,NA19435,NA19466,NA19703,NA20127 esv2671025 1 7803173 7804451 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6423324,essv5844959,essv6542419,essv5719957,essv5838521 M 1151 0 5 CAMTA1 HG01170,NA19332,NA19435,NA19466,NA19703 nsv4045607 1 7803202 7804440 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856102 M 10847 0 1 CAMTA1 nsv4462062 1 7803809 7803810 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026156 M 10847 1 0 CAMTA1 nsv4049786 1 7842359 7842447 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965258 M 10847 1 0 "" nsv1121747 1 7843000 7844500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968396 M 2 0 1 "" KWS2 nsv1075537 1 7843499 7844500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771027 M 1 0 1 "" KWP1 nsv1143433 1 7843600 7844500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980631 M 2 0 1 "" KWS1 nsv4033383 1 7854400 7861000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856119 M 10847 0 1 PER3 nsv161033 1 7856397 7864940 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179611 M 24 PER3 nsv3325226 1 7863494 7863494 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481675 M 14 1 0 PER3 HG00733 nsv4049831 1 7866953 7867026 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854002 M 10847 0 1 PER3 esv2742917 1 7889475 7890364 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6832588,essv6824969,essv6961539,essv6902520,essv6941771,essv6933296,essv6813161,essv6876643,essv6846996,essv6821169,essv6929049,essv6967916,essv6789139,essv6776926,essv6807362,essv6710571,essv6729608,essv6839961,essv6718157,essv6950538,essv6784476,essv6797437,essv6793271,essv6843874,essv6748198,essv6780856,essv6916584,essv6910030,essv6913989,essv6725841,essv6769507,essv6853219,essv6773425,essv6816632,essv6972321,essv6692749,essv6895839,essv6868702,essv6950117,essv6892309,essv6766531,essv6668928,essv6871705,essv6937667,essv6721994,essv6954725,essv6675191,essv6828992,essv6925679,essv6874692,essv6707254,essv6679152,essv6801611,essv6917412 M 96 0 54 PER3 SSM003,SSM004,SSM008,SSM009,SSM010,SSM012,SSM013,SSM015,SSM016,SSM017,SSM019,SSM020,SSM021,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM037,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM064,SSM065,SSM066,SSM067,SSM068,SSM070,SSM071,SSM072,SSM073,SSM075,SSM077,SSM079,SSM080,SSM081,SSM082,SSM084,SSM085,SSM086,SSM087,SSM090,SSM091,SSM092,SSM098,SSM099 esv2743028 1 7889939 7890032 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961539 M 96 0 1 PER3 SSM027 esv3680448 1 7889972 7890027 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501607 M 20 0 1 PER3 nsv3325533 1 7889973 7890026 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478588,nssv14474182,nssv14489442,nssv14482540,nssv14483395,nssv14482555,nssv14480699,nssv14476432,nssv14483027,nssv14479262,nssv14479231,nssv14472699 M 14 0 12 PER3 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv991458 1 7889987 7890040 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570335 M 3 0 1 PER3 HuRef nsv477904 1 7898709 7898709 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016187 M 9 1 0 PER3 NA18517 esv3653091 1 7899025 7899025 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476986 M 20 1 0 PER3 esv2660700 1 7908752 7909494 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5452478 M 1151 0 1 UTS2 HG00310 esv3585131 1 7908795 7909513 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847530,essv9847529,essv9847528,essv9847531,essv9847532 M 2504 0 5 UTS2 HG00310,HG01705,HG02224,NA21098,NA21128 nsv4048476 1 7908804 7909432 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854010 M 10847 0 1 UTS2 esv3653156 1 7914395 7914395 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477044 M 20 1 0 "" nsv4046747 1 7915161 7919864 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854019 M 10847 0 1 "" esv3668908 1 7916657 7916657 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491221 M 20 1 0 "" nsv3325227 1 7916658 7916658 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482399,nssv14476344,nssv14486519,nssv14482686,nssv14481819,nssv14480503,nssv14477702 M 14 7 0 "" CHM13,HG00268,HG01352,HG02818,NA12878,NA19240,NA19434 esv3451111 1 7916677 7916677 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701371 M 185 1 0 "" NA12878 esv3585132 1 7921468 7952768 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847533 M 2504 1 0 "" NA18941 nsv4039123 1 7921592 7957268 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965264 M 10847 1 0 "" esv3567897 1 7921952 7959991 CNV gain Uddin_et_al_2014 25503493 SNP array essv9789644 M 873 1 0 "" 400411TG esv2743139 1 7922901 7923112 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946481,essv6692750 M 96 0 2 "" SSM024,SSM037 esv2989084 1 7923036 7923115 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7258651 M 1 0 1 "" HuRef esv3680562 1 7923045 7923141 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501710 M 20 0 1 "" nsv3325535 1 7923047 7923106 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485493,nssv14473677 M 14 0 2 "" CHM1,NA19240 esv1585189 1 7923049 7923109 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3804508 M 2 0 1 "" HuRef nsv4534503 1 7923050 7923051 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024901 M 10847 1 0 "" nsv3325905 1 7923051 7923051 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487564 M 14 1 0 "" HG02106 nsv3325536 1 7923187 7923187 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477435,nssv14481346,nssv14479629,nssv14473422 M 14 4 0 "" HG01352,HG02059,HG02818,HX1 esv9095 1 7924866 7925645 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31536 M 1 0 0 "" esv5046 1 7924934 7925672 CNV loss Wang_et_al_2008 18987735 Sequencing essv27487 M 1 0 1 "" YH nsv160721 1 7924937 7925384 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179299 M 24 "" esv2666092 1 7924945 7925336 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5452962,essv6590580,essv5818900,essv5956820,essv5749682,essv6588926,essv5580851,essv6488901,essv5463498,essv6232486,essv5774770,essv6393424,essv5738581,essv6397283,essv5623821,essv6171239,essv5739240,essv6266602,essv5706376,essv6287297,essv5787385,essv6561835,essv5887726,essv6071672,essv5545435,essv5969046,essv5481507,essv6410868,essv5769304,essv6126445,essv5675803,essv6087682,essv5609501,essv6082818,essv5535767,essv6125308,essv5557584,essv6555651,essv5749862,essv6280524,essv5866722,essv6051596,essv5662041,essv6549133,essv5732882,essv6591211,essv5446050,essv6171633,essv5412831,essv6430122,essv5731566,essv6431536,essv5620420,essv6432049,essv5533668,essv6586392,essv5604893,essv5937051,essv5849787,essv6443466,essv5645969,essv6035737,essv5714806,essv6049443,essv5820660,essv6480407,essv5741919,essv6574163,essv5770734,essv6262983,essv5438546,essv5916279,essv5605737,essv6237111,essv5833541,essv6152229,essv5782284,essv6071488,essv5406419,essv6456380,essv5865517,essv6293654,essv5868308,essv6510402,essv5476783,essv6274257,essv5482282,essv5981820,essv5823164,essv6112075,essv5433918,essv6543789,essv5686994,essv6017867,essv5828338,essv6543548,essv5522498,essv6118058,essv5857566,essv6132482,essv5663920,essv6081705,essv5529064,essv6026868,essv5628583,essv6311558,essv5783009,essv6243959,essv5553418,essv6068574,essv5785920,essv6537226,essv5612438,essv6247186,essv5768657,essv6077919,essv5812895,essv6320462,essv5448321,essv6054870,essv5481799,essv6563493,essv5742128,essv6265135,essv5504634,essv6148849,essv5763197,essv6103553,essv5755871,essv6271673,essv5618733,essv5961735,essv5431965,essv6492955,essv5605498,essv6337729,essv5451346,essv5909595,essv5487791,essv6548934,essv5792118,essv6271034,essv5463023,essv5944620,essv5669965,essv6048322,essv5419681,essv6195881,essv5514785,essv6163458,essv5603289,essv6500087,essv5630473,essv6002534,essv5764081,essv6179194,essv5644539,essv6132893,essv5568558,essv5902168,essv5477186,essv6023986,essv5529811,essv6340838,essv5700534,essv6290565,essv5514645,essv6596517,essv5500862,essv6465980,essv5523146,essv6217184,essv5601098,essv6459955,essv5675700,essv6260868,essv5853694,essv6595168,essv5827539,essv6489640,essv5825612,essv6077397,essv5867074,essv6069827,essv5651255,essv5945998,essv5703301,essv6071609,essv5592926,essv6185869,essv5757180,essv6533523,essv5798382,essv6356675,essv5604664,essv6358896,essv5578543,essv6019104,essv5696355,essv6571214,essv5809859,essv6257924,essv5895385,essv6155420,essv5790466,essv6281345,essv6362683,essv6363300,essv6080098,essv6536918,essv6125274,essv6285255,essv6126415,essv6018911,essv6048485,essv6018318,essv6371896,essv6373175,essv5958114,essv6594272,essv6067271,essv6094165,essv6532343,essv6493965,essv5979087,essv5942016,essv6538912,essv6380029,essv6380499,essv6502651,essv6203039,essv6483548 M 1151 0 232 "" HG00108,HG00111,HG00125,HG00154,HG00158,HG00177,HG00236,HG00237,HG00246,HG00249,HG00251,HG00253,HG00257,HG00263,HG00267,HG00271,HG00273,HG00275,HG00276,HG00277,HG00278,HG00281,HG00284,HG00309,HG00315,HG00319,HG00326,HG00328,HG00329,HG00330,HG00331,HG00334,HG00337,HG00339,HG00342,HG00345,HG00346,HG00369,HG00375,HG00403,HG00404,HG00418,HG00419,HG00421,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00556,HG00557,HG00559,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00607,HG00608,HG00610,HG00613,HG00614,HG00619,HG00620,HG00626,HG00628,HG00638,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00701,HG00702,HG00704,HG00705,HG00707,HG00740,HG01051,HG01052,HG01061,HG01069,HG01072,HG01073,HG01101,HG01102,HG01107,HG01124,HG01125,HG01133,HG01134,HG01136,HG01148,HG01149,HG01171,HG01173,HG01174,HG01187,HG01342,HG01351,HG01354,HG01366,HG01383,HG01390,HG01440,HG01462,HG01491,HG01492,NA12546,NA18530,NA18532,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18550,NA18557,NA18559,NA18560,NA18561,NA18562,NA18567,NA18574,NA18576,NA18577,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18606,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18619,NA18620,NA18621,NA18623,NA18624,NA18626,NA18627,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18868,NA18941,NA18963,NA18977,NA18984,NA18985,NA18987,NA18990,NA18999,NA19002,NA19007,NA19062,NA19072,NA19075,NA19076,NA19077,NA19080,NA19082,NA19084,NA19085,NA19088,NA19130,NA19312,NA19359,NA19391,NA19396,NA19445,NA19446,NA19455,NA19663,NA19664,NA19681,NA19682,NA19685,NA19716,NA19717,NA19720,NA19723,NA19788,NA19818 esv3680604 1 7924945 7925451 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501748 M 20 0 1 "" nsv3325906 1 7924947 7925056 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490553 M 14 0 1 "" CHM1 nsv3324796 1 7924947 7925337 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474195,nssv14478513,nssv14487920,nssv14484144,nssv14483266 M 14 0 5 "" HG00514,HG02059,HG02106,HX1,NA19240 esv29691 1 7924952 7925557 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10705 M 40 0 4 "" NA12004,NA12749,NA18502,NA18858 nsv821110 1 7924952 7925557 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420957 M 1 0 1 "" NA10851 esv2743250 1 7924995 7925521 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6832589,essv6780857,essv6902521,essv6941772,essv6906091,essv6824970,essv6682817,essv6821170,essv6883250,essv6710572,essv6843765,essv6789140,essv6929050,essv6742127,essv6776927,essv6756541,essv6807363,essv6729610,essv6950539,essv6885977,essv6718158,essv6797438,essv6843875,essv6669132,essv6967918,essv6725842,essv6913990,essv6748209,essv6888996,essv6853221,essv6910031,essv6773426,essv6816643,essv6895840,essv6972322,essv6937668,essv6868703,essv6761845,essv6804395,essv6892311,essv6950128,essv6666886,essv6721995,essv6679153,essv6668929,essv6898603,essv6793272,essv6954726,essv6695587,essv6863944,essv6707255,essv6874693,essv6747764,essv6917413 M 96 0 54 "" SSM004,SSM005,SSM006,SSM008,SSM010,SSM011,SSM013,SSM014,SSM015,SSM016,SSM017,SSM020,SSM022,SSM023,SSM025,SSM026,SSM028,SSM029,SSM030,SSM031,SSM033,SSM034,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM053,SSM056,SSM059,SSM062,SSM066,SSM067,SSM068,SSM070,SSM071,SSM072,SSM074,SSM075,SSM079,SSM080,SSM082,SSM085,SSM087,SSM089,SSM090,SSM092,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 nsv3325907 1 7925123 7925177 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475864 M 14 0 1 "" CHM1 nsv3325228 1 7925235 7925289 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475611,nssv14476255 M 14 0 2 "" CHM1,HG00733 nsv3325538 1 7925290 7925290 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480358 M 14 1 0 "" NA12878 nsv3325908 1 7925399 7925399 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472979 M 14 1 0 "" HG04217 nsv3325539 1 7925444 7925444 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475133 M 14 1 0 "" NA19240 nsv3325909 1 7925461 7925461 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477408 M 14 1 0 "" NA19434 nsv3325229 1 7925461 7925515 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477076,nssv14480972,nssv14472616,nssv14485970,nssv14472118,nssv14486620,nssv14486359 M 14 0 7 "" CHM1,HG00514,HG00733,HG02059,HG02106,HX1,NA19240 nsv4517323 1 7925496 7925551 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854028 M 10847 0 1 "" nsv3325540 1 7925516 7925516 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472292,nssv14478704 M 14 2 0 "" HG04217,NA19434 nsv4462675 1 7931882 7931883 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024910 M 10847 1 0 "" nsv1145317 1 7936824 7936885 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982410 M 2 0 1 "" KWS1 esv3653398 1 7947100 7947100 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477262 M 20 1 0 "" nsv4044156 1 7948141 7973575 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965271 M 10847 1 0 "" esv3653469 1 7949502 7949502 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477325 M 20 1 0 "" esv2743361 1 7962923 7963335 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6669143,essv6846997,essv6902522,essv6789141,essv6699590,essv6883251,essv6780858,essv6821171,essv6937669,essv6696982,essv6929051,essv6859175,essv6913991,essv6686148,essv6725844,essv6972323,essv6816572,essv6888997,essv6853222,essv6773427,essv6675192,essv6692751,essv6941774,essv6898604,essv6954727,essv6721996,essv6695599,essv6707256,essv6925680,essv6759030 M 96 0 30 "" SSM005,SSM006,SSM013,SSM016,SSM019,SSM020,SSM022,SSM023,SSM026,SSM029,SSM032,SSM035,SSM037,SSM038,SSM039,SSM041,SSM045,SSM046,SSM061,SSM066,SSM068,SSM070,SSM078,SSM079,SSM086,SSM087,SSM088,SSM095,SSM097,SSM100 nsv3325911 1 7963071 7963170 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472521,nssv14472871 M 14 0 2 "" HG04217,HX1 nsv3324800 1 7963072 7963287 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474010,nssv14472381,nssv14492002,nssv14477103,nssv14475461,nssv14476062,nssv14473908,nssv14479924,nssv14475460,nssv14473468 M 14 0 10 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,NA12878,NA19240,NA19434 esv3541677 1 7963106 7963394 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740424 M 767 0 1 "" nsv954686 1 7963167 7963401 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000470 M 1 0 1 "" BILGI_BIOE dgv4e201 1 7963169 7963334 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2740756,esv2743441 M 96 0 2 "" SSM031,SSM089 dgv5e201 1 7963169 7963486 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2740757,esv2743430,esv2741890,esv2741974,esv2742007 M 96 0 6 "" SSM031,SSM072,SSM075,SSM076,SSM080,SSM089 nsv4033548 1 7969826 7970910 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854039 M 10847 0 1 "" nsv4039804 1 7971398 7971462 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854048 M 10847 0 1 "" nsv4042514 1 7973195 7973521 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965276 M 10847 1 0 "" esv3302892 1 7973195 7973542 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7736127 M 185 1 0 "" NA19093 nsv1075541 1 7974099 7974500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767494 M 1 0 1 "" KWP1 esv3585133 1 7975281 7978202 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847534 M 2504 0 1 TNFRSF9 HG01531 esv2678721 1 7975392 7978304 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5580510 M 1151 0 1 TNFRSF9 HG00159 nsv4518421 1 7978032 7978748 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854066 M 10847 0 1 TNFRSF9 nsv4051438 1 7981241 7983767 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965345 M 10847 1 0 TNFRSF9 nsv4051646 1 7981698 7981892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854075 M 10847 0 1 TNFRSF9 esv3653529 1 7996515 7996515 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477380 M 20 1 0 TNFRSF9 esv2743452 1 8002070 8002379 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6941775 M 96 0 1 TNFRSF9 SSM023 nsv3325233 1 8013178 8013178 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488497,nssv14491218,nssv14482317,nssv14482884,nssv14485046,nssv14483563 M 14 6 0 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA19240 nsv4044335 1 8014100 8014156 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854096 M 10847 0 1 "" nsv1521 1 8014239 8047493 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2406 M 9 1 0 PARK7 NA18555 nsv4044413 1 8018494 8037060 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965354 M 10847 1 0 PARK7 esv3668974 1 8021881 8021881 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491281 M 20 1 0 PARK7 nsv4051129 1 8026309 8028645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854107 M 10847 0 1 PARK7 nsv4462818 1 8036526 8036527 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024920 M 10847 1 0 PARK7 nsv4535378 1 8043834 8043835 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024930 M 10847 1 0 PARK7 nsv1144348 1 8048222 8048287 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995097 M 2 0 1 "" KWS1 nsv1075124 1 8048251 8048318 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772577 M 1 0 1 "" KWP1 nsv1137724 1 8048524 8048591 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969375,nssv3995098 M 2 0 2 "" KWS1,KWS2 esv2403277 1 8050410 8050769 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4650492 M 1 0 1 "" NA18507 nsv4040707 1 8050419 8050701 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965356 M 10847 1 0 "" nsv4517759 1 8050463 8050594 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854116 M 10847 0 1 "" nsv4536537 1 8050594 8050595 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024939 M 10847 1 0 "" nsv3325552 1 8055056 8055056 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488100 M 14 1 0 "" HG02106 nsv4046350 1 8065971 8067801 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852868 M 10847 0 1 "" nsv4535227 1 8083105 8083106 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024949 M 10847 1 0 ERRFI1 esv6796 1 8086889 8087063 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29237 M 1 0 0 "" esv3668989 1 8087006 8087006 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491295 M 20 1 0 "" nsv3325914 1 8087026 8087026 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476593,nssv14479497,nssv14475486,nssv14477460,nssv14479841,nssv14487469,nssv14488432,nssv14490285,nssv14490238,nssv14486274 M 14 10 0 "" CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 esv3653733 1 8087064 8087064 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477563 M 20 1 0 "" esv3680901 1 8087194 8087262 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502015 M 20 0 1 "" nsv4038094 1 8093767 8099889 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852875 M 10847 0 1 "" esv3585135 1 8095411 8103255 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847537 M 2504 0 1 "" HG02323 nsv4049131 1 8096566 8101184 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852882 M 10847 0 1 "" nsv4037331 1 8105000 8112000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856127 M 10847 0 1 "" nsv1076074 1 8105038 8105102 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767844 M 1 0 1 "" KWP1 esv3585136 1 8110264 8113874 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847538,essv9847539 M 2504 0 2 "" HG02332,NA19307 nsv4042061 1 8110296 8113860 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856136 M 10847 0 1 "" nsv945757 1 8117076 8123756 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750944,nssv1750988,nssv1751015,nssv1751009,nssv1751021,nssv1751026,nssv1751019,nssv1750971,nssv1751022,nssv1751013,nssv1750943,nssv1752570,nssv1750966,nssv1750963,nssv1750951,nssv1750967,nssv1750959,nssv1750995,nssv1750950,nssv1752571,nssv1750952,nssv1750973,nssv1750939,nssv1750985,nssv1750968,nssv1750980,nssv1750940,nssv1751004,nssv1751017,nssv1750983,nssv1751020,nssv1750976,nssv1750942,nssv1750970,nssv1750961,nssv1750992,nssv1750948,nssv1751002,nssv1751018,nssv1752568,nssv1750953,nssv1751025,nssv1750941,nssv1750999,nssv1750958,nssv1750990,nssv1750946,nssv1751003,nssv1751016,nssv1750981,nssv1750949,nssv1751011,nssv1750945,nssv1750993,nssv1750947,nssv1752572,nssv1751023,nssv1750937,nssv1750965,nssv1751012,nssv1750955,nssv1751007,nssv1750957,nssv1750986,nssv1750954,nssv1750962,nssv1751014,nssv1751001,nssv1750938,nssv1750998,nssv1750956,nssv1750982,nssv1751000,nssv1750960,nssv1750969,nssv1750994,nssv1752573,nssv1750996,nssv1750975,nssv1750978,nssv1750984,nssv1750991,nssv1752569,nssv1750977,nssv1750974,nssv1751006,nssv1751005,nssv1751010,nssv1751008,nssv1750964,nssv1750989,nssv1751027,nssv1750979,nssv1750997,nssv1751024,nssv1750972,nssv1750987 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1014727 1 8119262 8375913 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478359 M 29084 1 0 "" esv3685574 1 8129123 8129176 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16470094 M 20 0 0 "" nsv4048337 1 8129297 8132188 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965357 M 10847 1 0 "" nsv528132 1 8145294 8147157 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704677 M 2026 0 1 "" esv2661294 1 8147356 8147708 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5647987,essv5434164 M 1151 0 2 "" HG00512,HG00524 nsv1077035 1 8149406 8149462 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764428 M 1 0 1 "" KWP1 dgv32n106 1 8149407 8149463 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1144349,nsv1122291 M 2 0 2 "" KWS1,KWS2 nsv4042112 1 8162001 8164224 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856145 M 10847 0 1 "" nsv1133805 1 8163713 8163770 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995100,nssv3990231 M 2 0 2 "" KWS1,KWS2 nsv1145318 1 8163984 8164040 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982411 M 2 0 1 "" KWS1 esv3585137 1 8164787 8186286 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847541,essv9847540 M 2504 2 0 "" NA20882,NA20900 esv3585138 1 8166041 8207035 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847543,essv9847542 M 2504 2 0 "" NA20882,NA20900 nsv4462684 1 8168564 8168565 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024968 M 10847 1 0 "" nsv4462120 1 8170441 8170442 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024978 M 10847 1 0 "" esv2764230 1 8173369 8189285 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 nsv4039397 1 8173524 8174350 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856154 M 10847 0 1 "" nsv1160951 1 8176626 8191792 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027767 M 369 0 1 "" nsv4537693 1 8179840 8179841 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024989 M 10847 1 0 "" esv3585139 1 8182402 8190870 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847544,essv9847561,essv9847546,essv9847551,essv9847545,essv9847560,essv9847550,essv9847547,essv9847548,essv9847549,essv9847554,essv9847552,essv9847559,essv9847553,essv9847555,essv9847558,essv9847557,essv9847556,essv9847563,essv9847576,essv9847567,essv9847562,essv9847566,essv9847565,essv9847564,essv9847568,essv9847570,essv9847575,essv9847569,essv9847574,essv9847571,essv9847573,essv9847572,essv9847578,essv9847583,essv9847577,essv9847582,essv9847579,essv9847580,essv9847581,essv9847584,essv9847586,essv9847585,essv9847587 M 2504 0 44 "" HG01058,HG01883,HG01889,HG02318,HG02502,HG02536,HG02583,HG02585,HG02642,HG02756,HG02798,HG02805,HG02854,HG02884,HG02923,HG02941,HG03063,HG03064,HG03124,HG03132,HG03160,HG03172,HG03212,HG03439,NA18876,NA18933,NA19035,NA19107,NA19108,NA19153,NA19204,NA19207,NA19213,NA19318,NA19321,NA19374,NA19403,NA19437,NA19471,NA19472,NA19664,NA19701,NA19704,NA20296 esv2672911 1 8182406 8190875 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6042179,essv6383717,essv5663474,essv6161910,essv5471431,essv5603109,essv5795918,essv5851511,essv5467236 M 1151 0 9 "" NA19107,NA19213,NA19373,NA19437,NA19471,NA19472,NA19664,NA19701,NA19704 nsv4044076 1 8182406 8190875 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856164 M 10847 0 1 "" esv25059 1 8182444 8191375 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14504 M 40 0 2 "" NA07045,NA19108 esv2421513 1 8182462 8189854 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 8182584 8189285 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617691,nssv1617658,nssv1617669,nssv1617702,nssv1617680,nssv1617647 M 270 0 6 "" NA19127,NA19153,NA19154,NA19204,NA19205,NA19207 nsv4036972 1 8185260 8185367 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856177 M 10847 0 1 "" esv3585140 1 8185308 8186282 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847596,essv9847595,essv9847594,essv9847593,essv9847592,essv9847591,essv9847590,essv9847588,essv9847589,essv9847608,essv9847607,essv9847602,essv9847597,essv9847601,essv9847599,essv9847598,essv9847600,essv9847603,essv9847606,essv9847605,essv9847604,essv9847610,essv9847615,essv9847609,essv9847614,essv9847611,essv9847613,essv9847612,essv9847617,essv9847616 M 2504 0 30 "" HG01883,HG01889,HG02318,HG02502,HG02583,HG02585,HG02642,HG02756,HG02798,HG02854,HG02941,HG03063,HG03064,HG03124,HG03132,HG03160,HG03172,HG03212,HG03439,NA18876,NA19107,NA19204,NA19213,NA19318,NA19374,NA19403,NA19437,NA19471,NA19472,NA19704 esv2660395 1 8185330 8186291 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5581631 M 1151 0 1 "" NA18534 nsv545337 1 8200690 8210935 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709644 M 17421 1 0 "" esv3585141 1 8200707 8211256 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847625,essv9847658,essv9847624,essv9847618,essv9847623,essv9847622,essv9847619,essv9847621,essv9847620,essv9847626,essv9847631,essv9847657,essv9847640,essv9847627,essv9847630,essv9847629,essv9847628,essv9847634,essv9847639,essv9847633,essv9847632,essv9847638,essv9847635,essv9847637,essv9847636,essv9847642,essv9847656,essv9847647,essv9847641,essv9847646,essv9847643,essv9847645,essv9847644,essv9847650,essv9847655,essv9847649,essv9847648,essv9847654,essv9847651,essv9847653,essv9847652 M 2504 41 0 "" HG00096,HG00102,HG00139,HG00179,HG00185,HG00239,HG00267,HG00306,HG00323,HG00330,HG00334,HG00378,HG00380,HG01080,HG01102,HG01188,HG01325,HG01384,HG01403,HG01612,HG01669,HG01680,HG01988,HG02337,HG03826,HG03888,NA10847,NA11831,NA11840,NA11931,NA12004,NA12043,NA12760,NA12778,NA12830,NA18962,NA20502,NA20507,NA20510,NA20900,NA21101 nsv4048684 1 8200930 8211163 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854121 M 10847 0 1 "" esv2763847 1 8202357 8209321 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 8203407 8354157 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442595,nssv1442641,nssv1442617,nssv1442630,nssv1442652,nssv1442606 M 95 0 6 "" nsv4049123 1 8203848 8211261 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965358 M 10847 1 0 "" esv22301 1 8204084 8211127 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10444 M 40 3 0 "" NA11931,NA12004,NA12239 dgv95n54 1 8204719 8211074 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545339,nsv545338,nsv545340 M 17421 4 0 "" nsv441679 1 8206130 8209321 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1656570,nssv1656573,nssv1656569,nssv1656568,nssv1656575,nssv1656577,nssv1656576,nssv1656574,nssv1656580,nssv1656571,nssv1656579,nssv1656572,nssv1656578 M 270 13 0 "" NA07019,NA07022,NA10854,NA10857,NA11831,NA11840,NA12004,NA12043,NA12146,NA12155,NA12236,NA12239,NA12752 nsv4462690 1 8215624 8215625 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024996 M 10847 1 0 "" nsv4033576 1 8216554 8240600 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965359 M 10847 1 0 "" esv23800 1 8216828 8240818 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv15760 M 40 1 0 "" NA12156 nsv545341 1 8217087 8225581 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709649 M 17421 1 0 "" nsv545342 1 8217087 8230180 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709650 M 17421 1 0 "" esv3541900 1 8217954 8218023 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740647 M 767 0 1 "" nsv4038018 1 8220272 8221422 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965360 M 10847 1 0 "" nsv545343 1 8223832 8275284 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709651 M 17421 0 1 "" nsv1632 1 8238409 8283574 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7290 M 9 0 1 "" NA12156 nsv4533475 1 8243945 8243946 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024026 M 10847 1 0 "" nsv4041056 1 8245582 8245706 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854132 M 10847 0 1 "" esv2673013 1 8247755 8250065 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5459203,essv6386418,essv5590716,essv6532958,essv5869405,essv6425063,essv6455515,essv6127302,essv6250393,essv6234149,essv6226674 M 1151 0 11 "" HG01107,NA18505,NA19107,NA19213,NA19373,NA19374,NA19437,NA19452,NA19471,NA19472,NA19704 nsv4048987 1 8247755 8250065 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854139 M 10847 0 1 "" esv3585142 1 8247757 8250067 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847672,essv9847663,essv9847689,essv9847662,essv9847661,essv9847660,essv9847659,essv9847666,essv9847671,essv9847665,essv9847664,essv9847670,essv9847667,essv9847669,essv9847668,essv9847679,essv9847674,essv9847688,essv9847673,essv9847678,essv9847675,essv9847677,essv9847676,essv9847682,essv9847687,essv9847681,essv9847680,essv9847686,essv9847683,essv9847685,essv9847684,essv9847695,essv9847691,essv9847690,essv9847694,essv9847693,essv9847692,essv9847698,essv9847697,essv9847696,essv9847699,essv9847701,essv9847700 M 2504 0 43 "" HG00742,HG01107,HG01883,HG01889,HG01988,HG02334,HG02429,HG02479,HG02481,HG02536,HG02573,HG02667,HG02895,HG02941,HG02971,HG03049,HG03054,HG03063,HG03095,HG03123,HG03132,HG03157,HG03168,HG03172,HG03352,HG03439,NA18505,NA18924,NA18933,NA18934,NA19035,NA19107,NA19152,NA19209,NA19213,NA19318,NA19374,NA19403,NA19437,NA19452,NA19471,NA19472,NA19704 nsv4034344 1 8248980 8254967 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854146 M 10847 0 1 "" esv3542011 1 8252849 8252985 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740758 M 767 0 1 "" nsv4049577 1 8252855 8252983 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854154 M 10847 0 1 "" nsv4332045 1 8255243 8257674 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788874 M 10847 0 0 "" nsv4049509 1 8264215 8290932 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854164 M 10847 0 1 "" esv3653951 1 8277000 8277000 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477760 M 20 1 0 "" nsv4035795 1 8277000 8282200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854546 M 10847 0 1 "" nsv4535484 1 8277046 8277047 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026164 M 10847 1 0 "" nsv3325923 1 8277047 8277047 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491977,nssv14485962,nssv14475604,nssv14486426,nssv14482183 M 14 5 0 "" HG00514,HG02818,HG04217,NA19240,NA19434 esv2676421 1 8283371 8284817 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6498094,essv6198697,essv6406057,essv5884882,essv6534122,essv5704499,essv6575204,essv5636477,essv6426066,essv5779092,essv6544502,essv5545977,essv6264533,essv5850095,essv6210977,essv5495917,essv6489753,essv5754571,essv6218567,essv5429899,essv6358608,essv5865835,essv6274360,essv5753462,essv6240205,essv6150189,essv6375769,essv5900225,essv6512348,essv5780250,essv6464576,essv5510957,essv5904040,essv5687952,essv5412219 M 1151 0 35 "" HG00119,HG00246,HG00275,HG00277,HG00328,HG00513,HG00537,HG00580,HG00613,HG00619,HG00657,HG01060,HG01061,HG01070,HG01171,HG01334,HG01375,NA06989,NA12058,NA18612,NA18910,NA18988,NA19004,NA19058,NA19062,NA19067,NA19070,NA19072,NA19347,NA19684,NA19685,NA19703,NA19719,NA19783,NA20581 esv3585143 1 8283918 8289540 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847702 M 2504 0 1 "" HG02053 nsv4517988 1 8288991 8289100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854583 M 10847 0 1 "" nsv4051592 1 8289100 8289236 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965361 M 10847 1 0 "" esv3654031 1 8294377 8294377 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477831 M 20 1 0 "" esv3654103 1 8296444 8296444 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477897 M 20 1 0 "" nsv4035993 1 8302476 8303329 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854600 M 10847 0 1 "" esv3654172 1 8305360 8305360 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477959 M 20 1 0 "" esv3654258 1 8305966 8305966 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478036 M 20 1 0 "" nsv1012977 1 8312582 8545270 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696766 M 29084 0 1 RERE,SLC45A1 nsv4040995 1 8312976 8313456 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854608 M 10847 0 1 "" nsv4046032 1 8315214 8315286 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854618 M 10847 0 1 "" nsv4535159 1 8315438 8315439 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026175 M 10847 1 0 "" nsv4517591 1 8321048 8322009 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854627 M 10847 0 1 "" nsv1133806 1 8322208 8322265 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969376 M 2 0 1 "" KWS2 nsv1126974 1 8326142 8326213 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985262 M 2 0 1 "" KWS1 nsv4038418 1 8327248 8327308 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854636 M 10847 0 1 "" esv1547514 1 8336937 8336937 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3685454 M 2 1 0 "" HuRef esv3673040 1 8336962 8336963 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494940 M 20 0 0 "" esv2658784 1 8338181 8338947 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5974633 M 1151 0 1 "" NA19371 esv3585144 1 8338196 8338929 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847703 M 2504 0 1 "" NA19454 nsv4043121 1 8352852 8359240 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852890 M 10847 0 1 "" esv3585145 1 8360182 8364098 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847723,essv9847722,essv9847721,essv9847704,essv9847720,essv9847711,essv9847706,essv9847705,essv9847710,essv9847707,essv9847709,essv9847708,essv9847714,essv9847719,essv9847712,essv9847713,essv9847715,essv9847718,essv9847717,essv9847716,essv9847727,essv9847724,essv9847736,essv9847726,essv9847725,essv9847753,essv9847730,essv9847728,essv9847735,essv9847729,essv9847731,essv9847734,essv9847733,essv9847732,essv9847743,essv9847738,essv9847752,essv9847737,essv9847742,essv9847739,essv9847741,essv9847740,essv9847751,essv9847746,essv9847745,essv9847744,essv9847750,essv9847747,essv9847749,essv9847748,essv9847754,essv9847768,essv9847759,essv9847755,essv9847758,essv9847757,essv9847756,essv9847767,essv9847762,essv9847761,essv9847760,essv9847763,essv9847766,essv9847765,essv9847764,essv9847775,essv9847770,essv9847769,essv9847774,essv9847771,essv9847773,essv9847772,essv9847776,essv9847777 M 2504 0 74 "" HG00625,HG01048,HG01098,HG01101,HG01121,HG01148,HG01149,HG01177,HG01257,HG01272,HG01323,HG01351,HG01360,HG01362,HG01390,HG01395,HG01413,HG01447,HG01492,HG01494,HG01556,HG01572,HG01577,HG01892,HG01918,HG01924,HG01936,HG01938,HG01939,HG01941,HG01948,HG01950,HG01951,HG01953,HG01954,HG01973,HG01977,HG01979,HG01982,HG01992,HG01997,HG02002,HG02090,HG02102,HG02104,HG02146,HG02150,HG02252,HG02266,HG02275,HG02277,HG02278,HG02291,HG02298,HG02304,HG02345,HG03234,NA18948,NA18954,NA18978,NA19657,NA19664,NA19681,NA19682,NA19717,NA19722,NA19726,NA19732,NA19740,NA19752,NA19762,NA19770,NA20274,NA20314 esv2663055 1 8360239 8364039 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5463476,essv5890810,essv5642347,essv6407017,essv5646640,essv5914197,essv5544793,essv6093244,essv5770868,essv5936414,essv6284524,essv5940148,essv5868670,essv6503910,essv6571256,essv5975382,essv6593461 M 1151 0 17 "" HG01048,HG01101,HG01148,HG01149,HG01351,HG01390,HG01492,HG01494,NA18948,NA19657,NA19664,NA19681,NA19682,NA19717,NA19722,NA19726,NA19732 nsv4040075 1 8360239 8364039 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852909 M 10847 0 1 "" nsv947411 1 8360755 8373234 CNV deletion Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2762787 M 97 0 1 "" HGDP00998 nsv4043815 1 8361226 8361296 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852917 M 10847 0 1 "" esv2743463 1 8361234 8361818 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6876654,essv6759032,essv6846999,essv6756542,essv6679156,essv6895841,essv6668934,essv6733473,essv6863946,essv6874694 M 96 0 10 "" SSM012,SSM031,SSM033,SSM049,SSM059,SSM061,SSM086,SSM089,SSM092,SSM099 nsv4517196 1 8361279 8403645 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965362 M 10847 1 0 SLC45A1 esv2743475 1 8361352 8361590 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6895841,essv6668934 M 96 0 2 "" SSM031,SSM099 esv2743486 1 8361491 8361570 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863946 M 96 0 1 "" SSM089 nsv3325267 1 8361505 8361617 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479181 M 14 0 1 "" HG02818 nsv4042437 1 8361900 8362007 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965363 M 10847 1 0 "" nsv4048458 1 8368420 8370934 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852928 M 10847 0 1 "" nsv1150714 1 8373337 8373401 CNV insertion John_et_al_2014 26484159 Sequencing nssv3996190 M 1 1 0 "" KWB1 nsv1743 1 8377753 8411716 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3033 M 9 1 0 SLC45A1 NA18555 nsv512716 1 8381685 8382557 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625340 M 1 1 0 "" 1 esv2601359 1 8381817 8382614 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5225689 M 1 1 0 "" NA18507 esv3681139 1 8381857 8382019 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502230 M 20 0 1 "" nsv4036745 1 8381943 8382491 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965364 M 10847 1 0 "" nsv3325269 1 8382353 8382353 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478256,nssv14472318,nssv14478733,nssv14478505,nssv14475707,nssv14478654,nssv14484291,nssv14481662,nssv14487359,nssv14485644,nssv14485831,nssv14485152,nssv14472183,nssv14475522 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3325270 1 8382393 8382393 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473451,nssv14475155,nssv14484196,nssv14479719 M 14 4 0 "" CHM1,HG00268,HG00514,HG04217 nsv516827 1 8390888 8423510 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv693483,nssv685632,nssv671511,nssv693424,nssv657128,nssv679037,nssv684816,nssv654276,nssv656941 M 2026 0 9 RERE,SLC45A1 nsv3325571 1 8391317 8391317 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485232 M 14 1 0 SLC45A1 HX1 esv3681177 1 8391437 8391506 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502264 M 20 0 1 SLC45A1 esv1250756 1 8391507 8391507 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4006791 M 2 1 0 SLC45A1 HuRef esv2624373 1 8404405 8405339 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5304328 M 1 1 0 "" NA18507 dgv33n106 1 8404851 8404951 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1125454,nsv1129457 M 2 2 0 "" KWS1,KWS2 nsv1137725 1 8404882 8404952 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990232 M 2 0 1 "" KWS2 esv3669132 1 8404952 8404952 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491422 M 20 1 0 "" nsv3325276 1 8404953 8404953 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476773,nssv14476860,nssv14484046,nssv14477194,nssv14478528,nssv14476594,nssv14481485,nssv14487587,nssv14484564,nssv14472585,nssv14473909,nssv14478171,nssv14474689,nssv14475900 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1162151 1 8404955 8404955 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4276612 M 2 1 0 "" HuRef esv3681266 1 8405090 8405187 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502343 M 20 0 1 "" nsv4517410 1 8412567 8412654 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852949 M 10847 0 1 RERE nsv545344 1 8415521 8434000 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709652 M 17421 0 1 RERE nsv819494 1 8416148 8421431 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419699 M 2 1 0 RERE AK1 nsv4048634 1 8428841 8429582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852957 M 10847 0 1 RERE esv3681336 1 8435573 8435826 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502406 M 20 0 1 RERE esv990980 1 8435579 8435579 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3583268 M 3 1 0 RERE HuRef nsv3325574 1 8435717 8435717 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488403,nssv14478807,nssv14477078 M 14 3 0 RERE HG02059,HG02106,HX1 nsv4044451 1 8446067 8449359 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965366 M 10847 1 0 RERE esv3404682 1 8446618 8446637 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 esv3673081 1 8446627 8446628 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494977 M 20 0 0 RERE nsv4462133 1 8446627 8446628 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026194 M 10847 1 0 RERE nsv1140406 1 8446627 8448679 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960952,nssv3979112 M 2 2 0 RERE KWS1,KWS2 nsv3325937 1 8446628 8446628 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14476712,nssv14489574,nssv14474020,nssv14489601,nssv14481671 M 14 5 0 RERE HG00514,HG02059,HG02106,HX1,NA19434 esv3585147 1 8447277 8475460 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849159 M 2504 0 1 RERE NA19676 esv2674889 1 8447365 8475544 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5500893 M 1151 0 1 RERE NA19676 nsv4033238 1 8447369 8475544 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852977 M 10847 0 1 RERE nsv4462845 1 8450779 8450780 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026764 M 10847 1 0 RERE nsv524946 1 8455712 8472164 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700963 M 2026 0 1 RERE nsv4034870 1 8460288 8460360 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852987 M 10847 0 1 RERE nsv4462703 1 8462399 8462400 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026774 M 10847 1 0 RERE nsv4047858 1 8465349 8470435 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965367 M 10847 1 0 RERE nsv4051768 1 8476113 8476368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852996 M 10847 0 1 RERE nsv4462848 1 8477486 8477487 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025010 M 10847 1 0 RERE nsv947412 1 8479574 8482106 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2762537 M 97 1 0 RERE HGDP00998 nsv1012632 1 8480150 8883506 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473413 M 29084 1 0 RERE nsv4516789 1 8490513 8498561 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853006 M 10847 0 1 RERE nsv4048482 1 8493421 8497535 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853016 M 10847 0 1 RERE nsv1113071 1 8493918 8501990 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982412,nssv3990233 M 2 0 2 RERE KWS1,KWS2 nsv4037106 1 8493925 8501990 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853025 M 10847 0 1 RERE esv3687179 1 8500668 8500768 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16471538 M 20 0 0 RERE esv3360802 1 8501982 8502001 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 nsv4535946 1 8501990 8501991 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025020 M 10847 1 0 RERE nsv3325942 1 8501991 8501991 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491923 M 14 1 0 RERE HG00514 esv3305985 1 8501991 8501992 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 8509983 8509983 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019838 M 9 0 0 RERE nsv1122292 1 8527820 8527880 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969743 M 2 0 1 RERE KWS2 esv3441259 1 8528307 8528326 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593646 M 185 1 0 RERE NA11931 esv3569008 1 8534109 8540476 CNV gain Uddin_et_al_2014 25503493 SNP array essv9791866,essv9791089,essv9791422 M 873 3 0 RERE 400888MS,401391PJ,401792KR esv3577717 1 8534109 8540476 CNV loss Uddin_et_al_2014 25503493 SNP array essv9791200,essv9791311,essv9791644,essv9791755,essv9791977,essv9790977,essv9790755,essv9790533,essv9789978,essv9789866,essv9790089,essv9790644,essv9789755,essv9791533,essv9790311,essv9790200,essv9790422,essv9790866,essv9792088 M 873 0 19 RERE 400177SJ,400207HN,400234CA,400316SL,400319HT,400501SJ,400512LR,400629BM,400634MP,400686BM,400717BD,400793BR,401215MJ,401347DH,401437MJ,401465TB,401498HH,401813DN,401913GT nsv4050168 1 8545686 8548834 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853042 M 10847 0 1 RERE esv3585149 1 8550232 8551315 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849533,essv9849625,essv9849532,essv9849564,essv9849531,essv9849526,essv9849530,essv9849527,essv9849529,essv9849528,essv9849548,essv9849539,essv9849538,essv9849535,essv9849534,essv9849537,essv9849536,essv9849542,essv9849547,essv9849541,essv9849540,essv9849546,essv9849543,essv9849545,essv9849544,essv9849550,essv9849563,essv9849549,essv9849562,essv9849552,essv9849553,essv9849551,essv9849556,essv9849561,essv9849555,essv9849554,essv9849557,essv9849560,essv9849559,essv9849558,essv9849569,essv9849624,essv9849568,essv9849567,essv9849566,essv9849565,essv9849593,essv9849571,essv9849575,essv9849570,essv9849576,essv9849574,essv9849573,essv9849572,essv9849578,essv9849583,essv9849577,essv9849592,essv9849579,essv9849582,essv9849581,essv9849580,essv9849586,essv9849591,essv9849585,essv9849584,essv9849587,essv9849590,essv9849589,essv9849588,essv9849594,essv9849599,essv9849598,essv9849595,essv9849597,essv9849596,essv9849606,essv9849600,essv9849623,essv9849605,essv9849601,essv9849604,essv9849603,essv9849602,essv9849613,essv9849608,essv9849622,essv9849607,essv9849612,essv9849609,essv9849611,essv9849610,essv9849616,essv9849621,essv9849615,essv9849614,essv9849617,essv9849620,essv9849619,essv9849618,essv9849631,essv9849637,essv9849630,essv9849629,essv9849626,essv9849628,essv9849627,essv9849636,essv9849635,essv9849639,essv9849638,essv9849634,essv9849633,essv9849632,essv9849642,essv9849641,essv9849640,essv9849643,essv9849645,essv9849644,essv9849646,essv9849654,essv9849653,essv9849652,essv9849651,essv9849647,essv9849650,essv9849649,essv9849648,essv9849657,essv9849658,essv9849656,essv9849655,essv9849660,essv9849664,essv9849682,essv9849659,essv9849665,essv9849663,essv9849662,essv9849661,essv9849681,essv9849672,essv9849667,essv9849666,essv9849671,essv9849668,essv9849670,essv9849669,essv9849675,essv9849680,essv9849674,essv9849673,essv9849679,essv9849676,essv9849678,essv9849677,essv9849688,essv9849687,essv9849684,essv9849683,essv9849686,essv9849685,essv9849695,essv9849689,essv9849694,essv9849690,essv9849693,essv9849692,essv9849691,essv9849697,essv9849702,essv9849696,essv9849701,essv9849698,essv9849700,essv9849699,essv9849704,essv9849703 M 2504 0 179 RERE HG01108,HG01167,HG01174,HG01247,HG01350,HG01384,HG01485,HG01489,HG01879,HG01883,HG01886,HG01894,HG01896,HG01914,HG01915,HG01951,HG01956,HG01985,HG02012,HG02013,HG02107,HG02108,HG02144,HG02256,HG02284,HG02314,HG02323,HG02325,HG02332,HG02427,HG02445,HG02470,HG02477,HG02484,HG02496,HG02505,HG02545,HG02571,HG02573,HG02580,HG02585,HG02586,HG02595,HG02678,HG02703,HG02722,HG02757,HG02768,HG02769,HG02798,HG02805,HG02808,HG02810,HG02813,HG02814,HG02817,HG02820,HG02837,HG02839,HG02854,HG02861,HG02878,HG02882,HG02884,HG02923,HG02943,HG02952,HG02953,HG02968,HG02973,HG02974,HG02977,HG03025,HG03028,HG03040,HG03045,HG03064,HG03069,HG03082,HG03086,HG03088,HG03103,HG03108,HG03115,HG03129,HG03132,HG03133,HG03160,HG03168,HG03190,HG03196,HG03224,HG03225,HG03259,HG03304,HG03311,HG03343,HG03366,HG03372,HG03391,HG03428,HG03433,HG03436,HG03442,HG03455,HG03458,HG03469,HG03476,HG03485,HG03517,HG03520,HG03521,HG03571,NA18508,NA18517,NA18520,NA18856,NA18858,NA18864,NA18865,NA18870,NA18874,NA18876,NA18915,NA18934,NA19027,NA19028,NA19030,NA19036,NA19093,NA19096,NA19116,NA19117,NA19118,NA19121,NA19129,NA19130,NA19146,NA19147,NA19153,NA19172,NA19185,NA19190,NA19197,NA19204,NA19206,NA19210,NA19235,NA19247,NA19248,NA19257,NA19310,NA19316,NA19317,NA19321,NA19355,NA19376,NA19379,NA19401,NA19429,NA19434,NA19438,NA19439,NA19445,NA19449,NA19454,NA19457,NA19462,NA19625,NA19658,NA19682,NA19684,NA19703,NA19835,NA20281,NA20287,NA20296,NA20299,NA20359 esv2658508 1 8550246 8551326 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6564525,essv6498976,essv6587455,essv6251894,essv5626398,essv6414719,essv5559262,essv6233344,essv5411462,essv6437544,essv5440404,essv6056060,essv5485459,essv6104798,essv5684596,essv5979257,essv5580820,essv6062960,essv5573556,essv5997657,essv5459792,essv6049526,essv5438161,essv6184313,essv5705056,essv6002612,essv5396045,essv5951206,essv5722851,essv5794451,essv5525731,essv6458320,essv5473287,essv6060066,essv5406895,essv5860653,essv5928864,essv6361968,essv5769185,essv6364724,essv5781398,essv5999450,essv6218155,essv5883424,essv6380234 M 1151 0 45 RERE HG01108,HG01174,HG01350,HG01384,HG01489,NA11931,NA18508,NA18517,NA18593,NA18856,NA18858,NA18870,NA18874,NA18934,NA19093,NA19129,NA19130,NA19147,NA19153,NA19190,NA19197,NA19204,NA19210,NA19235,NA19247,NA19257,NA19311,NA19316,NA19355,NA19371,NA19376,NA19379,NA19398,NA19401,NA19429,NA19434,NA19444,NA19445,NA19457,NA19462,NA19625,NA19682,NA19684,NA19703,NA19835 nsv3325282 1 8550248 8551327 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474315,nssv14484033 M 14 0 2 RERE HG01352,NA19434 nsv4047019 1 8550270 8551299 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853612 M 10847 0 1 RERE esv25533 1 8550458 8551722 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13828,esv11693 M 40 0 4 RERE NA18517,NA18858,NA19129,NA19190 nsv4039664 1 8561089 8561279 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853629 M 10847 0 1 RERE nsv4050831 1 8561092 8561582 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965368 M 10847 1 0 RERE nsv3325944 1 8561097 8561179 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14813570 M 14 0 1 RERE HG02818 nsv3325945 1 8561267 8561393 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14813571 M 14 0 1 RERE HG02818 nsv3325946 1 8561927 8561927 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475219 M 14 1 0 RERE HG02106 nsv3325285 1 8562063 8562063 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14490155,nssv14476700,nssv14487163 M 14 3 0 RERE HG00268,HG01352,HG02106 nsv3324833 1 8562103 8562103 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14487698,nssv14474204,nssv14491370,nssv14477270,nssv14473690,nssv14483890,nssv14482043,nssv14490435,nssv14479089,nssv14487643 M 14 10 0 RERE CHM13,HG00268,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv3325286 1 8562190 8562190 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474345,nssv14480827,nssv14486260,nssv14483736,nssv14485741,nssv14482634,nssv14486920,nssv14473007,nssv14490903,nssv14491858,nssv14490088,nssv14476452,nssv14474996 M 14 13 0 RERE CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv4562577 1 8563150 8563151 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025038 M 10847 1 0 RERE nsv4565848 1 8563163 8563164 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025049 M 10847 1 0 RERE esv3391677 1 8569463 8569463 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740979 M 185 1 0 RERE NA19240 nsv159615 1 8577616 8581235 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178193 M 24 RERE nsv4462449 1 8601607 8601608 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025063 M 10847 1 0 RERE nsv4462450 1 8604804 8604805 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025073 M 10847 1 0 RERE nsv4462451 1 8607599 8607600 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025650 M 10847 1 0 RERE nsv4516906 1 8613021 8613079 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853645 M 10847 0 1 RERE nsv4049239 1 8613448 8613547 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853655 M 10847 0 1 RERE esv3687351 1 8614889 8614961 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16471693 M 20 0 0 RERE nsv4462144 1 8617096 8617097 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025661 M 10847 1 0 RERE nsv4035978 1 8619540 8619738 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853666 M 10847 0 1 RERE nsv4037531 1 8640907 8656353 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853681 M 10847 0 1 RERE nsv4462860 1 8666326 8666327 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025675 M 10847 1 0 RERE nsv947413 1 8669419 8674457 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 8671390 8673970 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423363 M 31 1 0 RERE NA18968 esv26500 1 8671618 8685734 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 8674457 8676429 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752582,nssv1752574,nssv1752579,nssv1752581,nssv1752575,nssv1752576,nssv1752580,nssv1752583,nssv1752578,nssv1752577 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv827030 1 8674560 8685010 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1435647 M 31 0 1 RERE NA18566 nsv4536734 1 8677442 8677443 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024031 M 10847 1 0 RERE esv3673117 1 8680477 8680478 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495009 M 20 0 0 RERE dgv11e212 1 8690933 8716080 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577719,esv3577718 M 873 0 2 RERE 401357MH,401804FG nsv4049648 1 8695180 8715880 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855640 M 10847 0 1 RERE esv3577720 1 8695755 8707826 CNV loss Uddin_et_al_2014 25503493 SNP array essv9792422 M 873 0 1 RERE 400882DD esv2743497 1 8705665 8706618 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6780859,essv6699591,essv6902523,essv6689251,essv6824972,essv6847000,essv6967919,essv6748220,essv6729611,essv6714231,essv6950541,essv6789142,essv6679157,essv6832590,essv6769508,essv6916596,essv6876665,essv6972324,essv6853223,essv6921704,essv6773428,essv6910032,essv6946482,essv6784985,essv6692752,essv6668935,essv6954728,essv6950139,essv6721997,essv6917414,essv6793273,essv6738800 M 96 0 32 RERE SSM003,SSM004,SSM008,SSM012,SSM013,SSM015,SSM017,SSM018,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM033,SSM036,SSM037,SSM039,SSM043,SSM045,SSM047,SSM052,SSM065,SSM066,SSM068,SSM069,SSM070,SSM071,SSM080,SSM082,SSM086,SSM087 esv2743508 1 8705833 8706336 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6832590,essv6946482,essv6967919,essv6902523,essv6689251,essv6699591,essv6789142,essv6824972,essv6780859,essv6847000,essv6950541,essv6729611,essv6748220,essv6714231,essv6921704,essv6910032,essv6853223,essv6784985,essv6692752,essv6679157,essv6668935,essv6954728,essv6876665,essv6950139,essv6721997,essv6793273,essv6917414 M 96 0 27 RERE SSM004,SSM008,SSM012,SSM013,SSM015,SSM017,SSM018,SSM024,SSM025,SSM026,SSM028,SSM031,SSM033,SSM036,SSM037,SSM039,SSM043,SSM045,SSM047,SSM068,SSM069,SSM070,SSM071,SSM080,SSM082,SSM086,SSM087 esv2407042 1 8705946 8706370 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4792099 M 1 0 1 RERE NA18507 nsv1129127 1 8713261 8713320 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3961803 M 2 1 0 RERE KWS1 esv27511 1 8715188 8720239 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17675 M 40 2 0 RERE NA15510,NA18861 nsv827141 1 8715751 8719780 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423374 M 31 1 0 RERE NA18968 esv2743519 1 8728615 8729481 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961541,essv6847001,essv6742128,essv6776928,essv6859177,essv6759033,essv6714233,essv6735969,essv6972325,essv6773429,essv6668936,essv6747766,essv6753485,essv6954730,essv6876676,essv6738801 M 96 0 16 RERE SSM012,SSM026,SSM027,SSM029,SSM031,SSM043,SSM050,SSM052,SSM053,SSM056,SSM058,SSM061,SSM066,SSM067,SSM086,SSM088 esv2384996 1 8728829 8729270 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4771378 M 1 0 1 RERE NA18507 esv2743530 1 8728882 8729237 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961541,essv6776928,essv6847001,essv6859177,essv6668936,essv6954730 M 96 0 6 RERE SSM026,SSM027,SSM031,SSM067,SSM086,SSM088 nsv3325952 1 8728955 8729054 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473003,nssv14479791,nssv14487276,nssv14474997,nssv14478180,nssv14484414,nssv14481515,nssv14479350,nssv14490136 M 14 0 9 RERE CHM13,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 esv3681534 1 8728983 8729102 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502585 M 20 0 1 RERE esv2743541 1 8728984 8729140 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961541,essv6847001,essv6859177,essv6668936,essv6954730 M 96 0 5 RERE SSM026,SSM027,SSM031,SSM086,SSM088 esv2743552 1 8729027 8729101 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6847001,essv6961541,essv6859177,essv6954730 M 96 0 4 RERE SSM026,SSM027,SSM086,SSM088 nsv4534771 1 8750341 8750342 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024047 M 10847 1 0 RERE nsv4462150 1 8753864 8753865 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024057 M 10847 1 0 RERE nsv4048909 1 8759337 8759417 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855668 M 10847 0 1 RERE nsv953453 1 8763001 8775100 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001734 M 1 1 0 RERE BILGI_BIOE nsv1126175 1 8763200 8763500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984404 M 2 0 1 RERE KWS1 nsv3325959 1 8763600 8763720 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480073 M 14 0 1 RERE HG02059 esv3585150 1 8765907 8775376 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849705 M 2504 0 1 RERE NA18508 esv25426 1 8766443 8774912 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17965 M 40 0 1 RERE NA18508 nsv1006756 1 8771440 8809049 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469495 M 29084 1 0 RERE nsv4462457 1 8771667 8771668 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024077 M 10847 1 0 RERE nsv4032496 1 8786219 8787097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855678 M 10847 0 1 RERE nsv4042444 1 8786618 8791068 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855685 M 10847 0 1 RERE nsv4039455 1 8792435 8792679 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855695 M 10847 0 1 RERE nsv4040391 1 8795716 8795772 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855705 M 10847 0 1 RERE nsv4462153 1 8800179 8800180 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024087 M 10847 1 0 RERE nsv4533930 1 8800622 8800623 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024097 M 10847 1 0 RERE esv3655011 1 8802926 8802926 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478713 M 20 1 0 RERE nsv4564417 1 8804607 8804608 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024108 M 10847 1 0 RERE nsv945760 1 8808975 8811704 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752628,nssv1752585,nssv1752623,nssv1752600,nssv1752652,nssv1752587,nssv1752636,nssv1752591,nssv1752611,nssv1752669,nssv1752634,nssv1752668,nssv1752635,nssv1752586,nssv1752632,nssv1752593,nssv1752654,nssv1752603,nssv1752618,nssv1752604,nssv1752646,nssv1752664,nssv1752656,nssv1752598,nssv1752626,nssv1752615,nssv1752642,nssv1752661,nssv1752672,nssv1752595,nssv1752640,nssv1752662,nssv1752633,nssv1752612,nssv1752638,nssv1752590,nssv1752647,nssv1752605,nssv1752648,nssv1752594,nssv1752644,nssv1752606,nssv1752607,nssv1752613,nssv1752649,nssv1752665,nssv1752629,nssv1752608,nssv1752620,nssv1752597,nssv1752637,nssv1752596,nssv1752614,nssv1752599,nssv1752678,nssv1752589,nssv1752651,nssv1752588,nssv1752621,nssv1752667,nssv1752677,nssv1752592,nssv1752674,nssv1752666,nssv1752627,nssv1752663,nssv1752584,nssv1752670,nssv1752643,nssv1752602,nssv1752645,nssv1752601,nssv1752680,nssv1752609,nssv1752610,nssv1752625,nssv1752675,nssv1752631,nssv1752673,nssv1752655,nssv1752624,nssv1752671,nssv1752679,nssv1752659,nssv1752653,nssv1752657,nssv1752660,nssv1752619,nssv1752641,nssv1752650,nssv1752617,nssv1752639,nssv1752616,nssv1752630,nssv1752622,nssv1752658,nssv1752676 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1854 1 8826155 8859690 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7349 M 9 1 0 RERE NA12156 nsv945761 1 8845223 8849700 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752709,nssv1752750,nssv1752682,nssv1752747,nssv1752699,nssv1752738,nssv1752688,nssv1752706,nssv1752765,nssv1752757,nssv1752759,nssv1752733,nssv1752695,nssv1752717,nssv1752683,nssv1752727,nssv1752766,nssv1752731,nssv1752710,nssv1752751,nssv1752702,nssv1752707,nssv1752761,nssv1752708,nssv1752684,nssv1752741,nssv1752700,nssv1752715,nssv1752692,nssv1752756,nssv1752687,nssv1752714,nssv1752758,nssv1752732,nssv1752701,nssv1752725,nssv1752691,nssv1752713,nssv1752703,nssv1752777,nssv1752686,nssv1752737,nssv1752762,nssv1752739,nssv1752763,nssv1752749,nssv1752705,nssv1752755,nssv1752697,nssv1752735,nssv1752693,nssv1752743,nssv1752764,nssv1752704,nssv1752685,nssv1752773,nssv1752694,nssv1752753,nssv1752712,nssv1752730,nssv1752689,nssv1752745,nssv1752760,nssv1752723,nssv1752696,nssv1752748,nssv1752690,nssv1752719,nssv1752698,nssv1752774,nssv1752767,nssv1752744,nssv1752769,nssv1752736,nssv1752716,nssv1752726,nssv1752771,nssv1752775,nssv1752681,nssv1752734,nssv1752718,nssv1752728,nssv1752711,nssv1752729,nssv1752740,nssv1752742,nssv1752746,nssv1752768,nssv1752776,nssv1752772,nssv1752722,nssv1752754,nssv1752724,nssv1752721,nssv1752770,nssv1752752,nssv1752720 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4040691 1 8847543 8847598 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855711 M 10847 0 1 RERE nsv4044141 1 8854304 8858307 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855721 M 10847 0 1 RERE nsv1113072 1 8863422 8863507 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967962 M 2 0 1 RERE KWS2 nsv4462871 1 8864567 8864568 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024118 M 10847 1 0 RERE nsv4534711 1 8882279 8882280 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024127 M 10847 1 0 "" nsv945762 1 8883369 8896803 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752799,nssv1753238,nssv1752793,nssv1753258,nssv1752779,nssv1752839,nssv1752806,nssv1752808,nssv1753255,nssv1752816,nssv1752788,nssv1752825,nssv1752809,nssv1753240,nssv1752786,nssv1752828,nssv1752785,nssv1753236,nssv1753253,nssv1753264,nssv1753248,nssv1753256,nssv1752790,nssv1752833,nssv1752797,nssv1752819,nssv1753251,nssv1752813,nssv1752784,nssv1753257,nssv1752807,nssv1753243,nssv1753249,nssv1753242,nssv1752789,nssv1753241,nssv1752792,nssv1753235,nssv1752798,nssv1752835,nssv1752800,nssv1753265,nssv1752802,nssv1753239,nssv1753246,nssv1752814,nssv1753254,nssv1752810,nssv1752783,nssv1753259,nssv1753250,nssv1753245,nssv1752794,nssv1752826,nssv1752787,nssv1752836,nssv1753247,nssv1752824,nssv1752795,nssv1752830,nssv1753252,nssv1752803,nssv1752781,nssv1753237,nssv1752782,nssv1752805,nssv1752780,nssv1752838,nssv1752791,nssv1753261,nssv1752796,nssv1752820,nssv1752811,nssv1752831,nssv1752812,nssv1752804,nssv1753263,nssv1752821,nssv1752801,nssv1752834,nssv1753262,nssv1752827,nssv1752841,nssv1752829,nssv1753233,nssv1752832,nssv1752823,nssv1752817,nssv1753244,nssv1752840,nssv1752818,nssv1752822,nssv1753234,nssv1752778,nssv1752815,nssv1753260,nssv1752837 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4033651 1 8884821 8888465 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855729 M 10847 0 1 "" nsv4036295 1 8884931 8885825 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965369 M 10847 1 0 "" nsv4042964 1 8885000 8890000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856183 M 10847 0 1 "" nsv4561132 1 8885039 8885040 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025687 M 10847 1 0 "" nsv4038383 1 8885825 8886876 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856190 M 10847 0 1 "" nsv4038338 1 8886697 8890335 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965370 M 10847 1 0 "" esv2758919 1 8888241 8916640 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757721 M 270 1 0 "" NA18863 nsv4517255 1 8888312 8889408 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965371 M 10847 1 0 "" nsv1010058 1 8890782 8905149 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469656 M 29084 1 0 "" nsv545345 1 8891125 9095610 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709653 M 17421 1 0 CA6,ENO1,ENO1-AS1,MIR6728,SLC2A7 nsv4044433 1 8893052 8897372 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856571 M 10847 0 1 "" esv3585151 1 8896797 8908252 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849706 M 2504 1 0 "" HG00437 esv3585152 1 8902400 8903006 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849707 M 2504 0 1 "" HG02238 nsv1001865 1 8903931 8933242 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463122 M 29084 1 0 ENO1,MIR6728 nsv4039935 1 8911627 8912277 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853696 M 10847 0 1 "" nsv4462735 1 8922642 8922643 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025697 M 10847 1 0 ENO1 nsv4048588 1 8923652 8923737 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853716 M 10847 0 1 ENO1 esv3585154 1 8924066 8925394 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849709 M 2504 0 1 ENO1 HG02058 nsv4048278 1 8924742 8924926 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853725 M 10847 0 1 ENO1 nsv4462465 1 8924826 8924827 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025706 M 10847 1 0 ENO1 nsv4532828 1 8929287 8929288 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025717 M 10847 1 0 ENO1 nsv3325964 1 8929288 8929288 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14474727 M 14 1 0 ENO1 HG02818 nsv4046883 1 8950867 8951367 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853735 M 10847 0 1 "" nsv945763 1 8953626 8964009 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753276,nssv1753316,nssv1753267,nssv1753320,nssv1753284,nssv1753305,nssv1753294,nssv1753359,nssv1753287,nssv1753291,nssv1753351,nssv1753354,nssv1753268,nssv1753357,nssv1753283,nssv1753356,nssv1753350,nssv1753303,nssv1753279,nssv1753326,nssv1753275,nssv1753330,nssv1753273,nssv1753310,nssv1753295,nssv1753296,nssv1753297,nssv1753314,nssv1753343,nssv1753361,nssv1753285,nssv1753353,nssv1753272,nssv1753319,nssv1753346,nssv1753313,nssv1753269,nssv1753337,nssv1753344,nssv1753324,nssv1753345,nssv1753327,nssv1753352,nssv1753341,nssv1753348,nssv1753333,nssv1753349,nssv1753318,nssv1753280,nssv1753302,nssv1753278,nssv1753336,nssv1753277,nssv1753300,nssv1753347,nssv1753301,nssv1753290,nssv1753322,nssv1753271,nssv1753340,nssv1753282,nssv1753317,nssv1753288,nssv1753332,nssv1753274,nssv1753307,nssv1753286,nssv1753342,nssv1753281,nssv1753266,nssv1753270,nssv1753325,nssv1753311,nssv1753362,nssv1753355,nssv1753339,nssv1753331,nssv1753338,nssv1753323,nssv1753321,nssv1753289,nssv1753358,nssv1753293,nssv1753312,nssv1753315,nssv1753329,nssv1753306,nssv1753334,nssv1753360,nssv1753309,nssv1753292,nssv1753308,nssv1753328,nssv1753298,nssv1753299,nssv1753335,nssv1753304 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4462161 1 8958081 8958082 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025726 M 10847 1 0 "" nsv4047397 1 8958253 8959722 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853744 M 10847 0 1 "" nsv1113073 1 8960279 8960338 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967963 M 2 0 1 "" KWS2 nsv945764 1 8965818 8969898 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753442,nssv1753426,nssv1753377,nssv1753427,nssv1753449,nssv1753435,nssv1753445,nssv1753405,nssv1753364,nssv1753402,nssv1753391,nssv1753390,nssv1753383,nssv1753432,nssv1753380,nssv1753431,nssv1753384,nssv1753456,nssv1753378,nssv1753454,nssv1753371,nssv1753403,nssv1753448,nssv1753401,nssv1753447,nssv1753395,nssv1753376,nssv1753438,nssv1753373,nssv1753389,nssv1753446,nssv1753416,nssv1753370,nssv1753450,nssv1753381,nssv1753412,nssv1753382,nssv1753363,nssv1753443,nssv1753393,nssv1753392,nssv1753423,nssv1753366,nssv1753417,nssv1753365,nssv1753421,nssv1753375,nssv1753396,nssv1753367,nssv1753430,nssv1753394,nssv1753434,nssv1753368,nssv1753451,nssv1753374,nssv1753458,nssv1753444,nssv1753410,nssv1753441,nssv1753407,nssv1753372,nssv1753436,nssv1753387,nssv1753419,nssv1753379,nssv1753399,nssv1753385,nssv1753422,nssv1753369,nssv1753398,nssv1753440,nssv1753400,nssv1753437,nssv1753428,nssv1753413,nssv1753424,nssv1753439,nssv1753411,nssv1753459,nssv1753453,nssv1753425,nssv1753397,nssv1753404,nssv1753455,nssv1753429,nssv1753388,nssv1753418,nssv1753414,nssv1753415,nssv1753433,nssv1753420,nssv1753406,nssv1753409,nssv1753457,nssv1753408,nssv1753452,nssv1753386 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4049777 1 8966531 8966832 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853761 M 10847 0 1 "" nsv3325308 1 8972285 8972285 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481052,nssv14488139,nssv14486026 M 14 3 0 "" HG00733,HG01352,NA19434 esv3655079 1 8976768 8976768 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478775 M 20 1 0 "" esv2670913 1 8976892 8978092 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6311641,essv5746434 M 1151 0 2 "" HG01108,NA18523 esv3585157 1 8977136 8978028 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850134,essv9850136,essv9850135 M 2504 0 3 "" HG01108,HG02317,HG02462 nsv4033085 1 8979826 8988177 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853768 M 10847 0 1 "" nsv4051041 1 8980079 8980200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853778 M 10847 0 1 "" esv3655143 1 8989510 8989510 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478832 M 20 1 0 "" nsv4517207 1 8990943 8992010 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853787 M 10847 0 1 "" nsv527110 1 8991141 8991873 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703492 M 2026 0 1 "" esv3585158 1 8998691 9000106 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850139,essv9850138,essv9850137,essv9850140,essv9850141 M 2504 0 5 "" HG00266,HG01625,HG01631,HG01784,HG02277 esv2763506 1 9001487 9027914 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7031523 M 1109 1 0 CA6 SW_1056 esv3585159 1 9001741 9002484 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850142 M 2504 0 1 "" HG03713 nsv1965 1 9003738 9007657 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3239 M 9 1 0 CA6 NA12878 esv3585160 1 9006369 9012990 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850144,essv9850143,essv9850147,essv9850146,essv9850145,essv9850148,essv9850150,essv9850149 M 2504 0 8 CA6 HG02481,HG02836,HG02878,HG03224,HG03363,HG03410,NA18881,NA20289 nsv4048844 1 9006378 9012943 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854362 M 10847 0 1 CA6 esv2762130 1 9007556 9012737 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004941 M 1109 0 1 CA6 RW_0183 nsv516097 1 9009406 9011722 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv660321,nssv660728,nssv671923,nssv666175,nssv660579,nssv671111,nssv671439,nssv692368,nssv669183 M 2026 0 9 CA6 esv3890637 1 9015436 9044562 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25789263 M 3017 1 0 CA6 nsv4533728 1 9015675 9015676 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025736 M 10847 1 0 CA6 nsv471857 1 9020717 9020717 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020083 M 9 1 0 CA6 NA18555 nsv4558019 1 9025086 9025087 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025746 M 10847 1 0 CA6 nsv4532988 1 9037769 9037770 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025767 M 10847 1 0 "" nsv4536154 1 9037773 9037774 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025776 M 10847 1 0 "" nsv4534892 1 9037785 9037786 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025787,nssv16025798 M 10847 2 0 "" nsv4517913 1 9038375 9044053 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854380 M 10847 0 1 "" nsv4039730 1 9038644 9055455 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854398 M 10847 0 1 "" nsv526389 1 9039022 9049872 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702688 M 2026 0 1 "" esv2763512 1 9039022 9056507 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7031634 M 1109 0 1 "" SW_1309 nsv1009004 1 9039704 9074465 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482463 M 29084 0 1 SLC2A7 esv3655200 1 9044497 9044497 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478884 M 20 1 0 "" nsv4517197 1 9046599 9046792 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv1596537