A curated catalogue of human genomic structural variation


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Examples: chr7:71890181..72690180, CFTR, AC108171.3, nsv529033.
  
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The following 271 regions match your request.

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr1
 
 
 
 
 
 
chr2
 
 
 
 
 
 
 
 
chr3
 
 
 
 
 
chr4
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr5
 
 
 
 
 
 
 
 
 
chr6
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr7
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr8
 
 
 
 
 
 
chr9
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr10
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr11
 
 
 
 
chr12
 
 
 
 
 
 
 
 
 
chr14
 
 
 
 
 
 
 
 
 
 
chr15
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr16
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr17
 
 
 
 
chr20
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
chr19
 
 
 
 
 
 
 
 
 
 
chr22
 
 
chrX

Name Type Description Position Match Score
nssv558484 supporting_variant:DGVa CYP11B1 chr8:143953775..143961236 300
nsv482123 toplevel_variant:DGVa CYP11B1 chr8:143953775..143961236 300
nssv558560 supporting_variant:DGVa SLC16A11 chr17:6944949..6947242 300
nsv482199 toplevel_variant:DGVa SLC16A11 chr17:6944949..6947242 300
nssv548236 supporting_variant:DGVa OR11H1 chr22:16448826..16449804 300
nsv471422 toplevel_variant:DGVa OR11H1 chr22:16448826..16449804 300
nssv547946 supporting_variant:DGVa PPP1R12B chr1:202432344..202528879 200
nsv471538 toplevel_variant:DGVa PPP1R12B chr1:202432344..202528879 200
nssv548058 supporting_variant:DGVa OR2T11 chr1:248789479..248790429 200
nsv471355 toplevel_variant:DGVa OR2T11 chr1:248789479..248790429 200
nssv547997 supporting_variant:DGVa UGT2B11 chr4:70029241..70181724 200
nssv558449 supporting_variant:DGVa UGT2B11 chr4:70066047..70080449 200
nsv482088 toplevel_variant:DGVa UGT2B11 chr4:70066047..70080449 200
nssv548014 supporting_variant:DGVa ZDHHC11 chr5:688001..815717 200
nssv548261 supporting_variant:DGVa ZDHHC11 chr5:795720..851101 200
nsv471431 toplevel_variant:DGVa ZDHHC11 chr5:795720..851101 200
nssv548306 supporting_variant:DGVa LOC100132832 chr7:76668797..76682355 200
nsv471448 toplevel_variant:DGVa LOC100132832 chr7:76668797..76682355 200
nssv547858 supporting_variant:DGVa MGC119295 chr7:102114386..102418049 200
nssv548316 supporting_variant:DGVa LOC136157 chr7:124116425..124117009 200
nsv471452 toplevel_variant:DGVa LOC136157 chr7:124116425..124117009 200
nssv547974 supporting_variant:DGVa SPAG11B chr8:7287818..7402590 200
nssv547972 supporting_variant:DGVa SPAG11A chr8:7656169..7739590 200
nssv548336 supporting_variant:DGVa SPAG11A chr8:7705402..7721319 200
nsv471458 toplevel_variant:DGVa SPAG11A chr8:7705402..7721319 200
nssv547955 supporting_variant:DGVa REXO1L1 chr8:86552570..86574324 200
nsv471542 toplevel_variant:DGVa REXO1L1 chr8:86552570..86574324 200
nssv558483 supporting_variant:DGVa REXO1L1 chr8:86568695..86575726 200
nsv482122 toplevel_variant:DGVa REXO1L1 chr8:86568695..86575726 200
nssv558487 supporting_variant:DGVa PPP1R16A chr8:145722109..145727503 200
nsv482126 toplevel_variant:DGVa PPP1R16A chr8:145722109..145727503 200
nssv558519 supporting_variant:DGVa KCNJ11 chr11:17406798..17410206 200
nsv482158 toplevel_variant:DGVa KCNJ11 chr11:17406798..17410206 200
nssv548129 supporting_variant:DGVa LOC100132247 chr16:22524844..22547828 200
nsv471386 toplevel_variant:DGVa LOC100132247 chr16:22524844..22547828 200
nssv547867 supporting_variant:DGVa ARL17P1 chr17:44559685..44643344 200
nssv558569 supporting_variant:DGVa FAM108A1 chr19:1876975..1885518 200
nsv482208 toplevel_variant:DGVa FAM108A1 chr19:1876975..1885518 200
nssv548206 supporting_variant:DGVa PSG11 chr19:43511809..43530631 200
nsv471412 toplevel_variant:DGVa PSG11 chr19:43511809..43530631 200
nssv547887 supporting_variant:DGVa OR4F16 chr1:318139..470924 100
nsv471518 toplevel_variant:DGVa OR4F16 chr1:318139..470924 100
nssv558397 supporting_variant:DGVa KLHL17 chr1:895967..901095 100
nsv482036 toplevel_variant:DGVa KLHL17 chr1:895967..901095 100
nssv547949 supporting_variant:DGVa PRAMEF1 chr1:12840259..12865371 100
nsv471539 toplevel_variant:DGVa PRAMEF1 chr1:12840259..12865371 100
nssv548025 supporting_variant:DGVa NBPF10 chr1:16890412..16918689 100
nsv471343 toplevel_variant:DGVa NBPF10 chr1:16890412..16918689 100
nssv548028 supporting_variant:DGVa NBPF1 chr1:16890412..16939982 100
nsv471344 toplevel_variant:DGVa NBPF1 chr1:16890412..16939982 100
nssv547800 supporting_variant:DGVa AMY1A chr1:104159280..104210501 100
nssv548133 supporting_variant:DGVa AMY1B chr1:104212667..104307019 100
nsv471437 toplevel_variant:DGVa AMY1B chr1:104212667..104307019 100
nssv548035 supporting_variant:DGVa AMY1A chr1:104292440..104301310 100
nsv471346 toplevel_variant:DGVa AMY1A chr1:104292440..104301310 100
nssv558453 supporting_variant:DGVa GSTM1 chr1:110230418..110236366 100
nsv482092 toplevel_variant:DGVa GSTM1 chr1:110230418..110236366 100
nssv558475 supporting_variant:DGVa FAM108A3 chr1:146075476..146080233 100
nsv482114 toplevel_variant:DGVa FAM108A3 chr1:146075476..146080233 100
nssv548048 supporting_variant:DGVa LCE1D chr1:152769227..152770657 100
nsv471351 toplevel_variant:DGVa LCE1D chr1:152769227..152770657 100
nssv558495 supporting_variant:DGVa MSTO1 chr1:155580007..155584757 100
nsv482134 toplevel_variant:DGVa MSTO1 chr1:155580007..155584757 100
nssv558497 supporting_variant:DGVa FCER1G chr1:161185087..161189038 100
nsv482136 toplevel_variant:DGVa FCER1G chr1:161185087..161189038 100
nssv548211 supporting_variant:DGVa CFHR1 chr1:196782097..196890345 100
nssv548052 supporting_variant:DGVa CFHR1 chr1:196788861..196801316 100
nsv471353 toplevel_variant:DGVa CFHR1 chr1:196788861..196801316 100
nssv548256 supporting_variant:DGVa CR1 chr1:207696946..207751607 100
nsv471426 toplevel_variant:DGVa CR1 chr1:207696946..207751607 100
nssv547885 supporting_variant:DGVa OR2T10 chr1:248745960..248795103 100
nsv471517 toplevel_variant:DGVa OR2T10 chr1:248745960..248795103 100
nssv558422 supporting_variant:DGVa NDUFA10 chr2:240900156..240964798 100
nsv482061 toplevel_variant:DGVa NDUFA10 chr2:240900156..240964798 100
nssv558423 supporting_variant:DGVa RNPEPL1 chr2:241508104..241518141 100
nsv482062 toplevel_variant:DGVa RNPEPL1 chr2:241508104..241518141 100
nssv558424 supporting_variant:DGVa AQP12A chr2:241631262..241637899 100
nsv482063 toplevel_variant:DGVa AQP12A chr2:241631262..241637899 100
nssv548243 supporting_variant:DGVa MST1 chr3:49721381..49726196 100
nsv471425 toplevel_variant:DGVa MST1 chr3:49721381..49726196 100
nssv548248 supporting_variant:DGVa ZNF717 chr3:75786029..75834255 100
nsv471427 toplevel_variant:DGVa ZNF717 chr3:75786029..75834255 100
nssv548254 supporting_variant:DGVa FAM157A chr3:197879237..197907728 100
nsv471429 toplevel_variant:DGVa FAM157A chr3:197879237..197907728 100
nssv558447 supporting_variant:DGVa SLC26A1 chr4:981447..987224 100
nsv482086 toplevel_variant:DGVa SLC26A1 chr4:981447..987224 100
nssv548122 supporting_variant:DGVa CDH12 chr5:21935604..22015545 100
nsv471371 toplevel_variant:DGVa CDH12 chr5:21935604..22015545 100
nssv547965 supporting_variant:DGVa SERF1B chr5:70196076..70280244 100
nssv548264 supporting_variant:DGVa SERF1A chr5:70196490..70214356 100
nsv471432 toplevel_variant:DGVa SERF1A chr5:70196490..70214356 100
nssv548266 supporting_variant:DGVa SMN1 chr5:70220768..70248836 100
nsv471433 toplevel_variant:DGVa SMN1 chr5:70220768..70248836 100
nssv548271 supporting_variant:DGVa DND1 chr5:140050382..140053171 100
nsv471435 toplevel_variant:DGVa DND1 chr5:140050382..140053171 100
nssv548286 supporting_variant:DGVa OR4F16 chr5:180794288..180795224 100
nsv471442 toplevel_variant:DGVa OR4F16 chr5:180794288..180795224 100
nssv558455 supporting_variant:DGVa HSPA1A chr6:31783291..31785719 100
nsv482094 toplevel_variant:DGVa HSPA1A chr6:31783291..31785719 100
nssv548333 supporting_variant:DGVa CYP21A2 chr6:31958022..32013903 100
nssv558456 supporting_variant:DGVa TREML1 chr6:41117344..41122070 100
nsv482095 toplevel_variant:DGVa TREML1 chr6:41117344..41122070 100
nssv558457 supporting_variant:DGVa GSTA1 chr6:52656179..52668664 100
nsv482096 toplevel_variant:DGVa GSTA1 chr6:52656179..52668664 100
nssv558460 supporting_variant:DGVa CYP2W1 chr7:1022835..1029276 100
nsv482099 toplevel_variant:DGVa CYP2W1 chr7:1022835..1029276 100
nssv558461 supporting_variant:DGVa TMEM184A chr7:1581871..1596066 100
nsv482100 toplevel_variant:DGVa TMEM184A chr7:1581871..1596066 100
nssv558462 supporting_variant:DGVa KIAA0415 chr7:4815264..4831397 100
nsv482101 toplevel_variant:DGVa KIAA0415 chr7:4815264..4831397 100
nssv558463 supporting_variant:DGVa NCF1 chr7:74188309..74203658 100
nsv482102 toplevel_variant:DGVa NCF1 chr7:74188309..74203658 100
nssv548023 supporting_variant:DGVa CCDC146 chr7:76147350..76808780 100
nssv548326 supporting_variant:DGVa OR2A1 chr7:144015218..144016148 100
nsv471455 toplevel_variant:DGVa OR2A1 chr7:144015218..144016148 100
nssv547894 supporting_variant:DGVa OR4F21 chr8:10002..170543 100
nsv471521 toplevel_variant:DGVa OR4F21 chr8:10002..170543 100
nssv558479 supporting_variant:DGVa DEFA1 chr8:6854288..6856712 100
nsv482118 toplevel_variant:DGVa DEFA1 chr8:6854288..6856712 100
nssv548338 supporting_variant:DGVa DEFB103A chr8:7738914..7740180 100
nsv471459 toplevel_variant:DGVa DEFB103A chr8:7738914..7740180 100
nssv548380 supporting_variant:DGVa DEFB130 chr8:11860822..12059955 100
nssv558488 supporting_variant:DGVa LRRC14 chr8:145743391..145750557 100
nsv482127 toplevel_variant:DGVa LRRC14 chr8:145743391..145750557 100
nssv548351 supporting_variant:DGVa WASH1 chr9:14511..29739 100
nsv471464 toplevel_variant:DGVa WASH1 chr9:14511..29739 100
nssv548354 supporting_variant:DGVa CBWD1 chr9:121038..179075 100
nsv471465 toplevel_variant:DGVa CBWD1 chr9:121038..179075 100
nssv558491 supporting_variant:DGVa FAM75A1 chr9:39884975..39891207 100
nsv482130 toplevel_variant:DGVa FAM75A1 chr9:39884975..39891207 100
nssv558505 supporting_variant:DGVa SYT15 chr10:46958528..46970601 100
nsv482144 toplevel_variant:DGVa SYT15 chr10:46958528..46970601 100
nssv548060 supporting_variant:DGVa FAM21A chr10:51827684..51893268 100
nsv471356 toplevel_variant:DGVa FAM21A chr10:51827684..51893268 100
nssv558511 supporting_variant:DGVa CYP2E1 chr10:135340867..135352620 100
nsv482150 toplevel_variant:DGVa CYP2E1 chr10:135340867..135352620 100
nssv558512 supporting_variant:DGVa SYCE1 chr10:135367404..135382876 100
nsv482151 toplevel_variant:DGVa SYCE1 chr10:135367404..135382876 100
nssv558517 supporting_variant:DGVa CHRNA10 chr11:3686817..3692614 100
nsv482156 toplevel_variant:DGVa CHRNA10 chr11:3686817..3692614 100
nssv548066 supporting_variant:DGVa OR51A4 chr11:4967391..4968330 100
nsv471358 toplevel_variant:DGVa OR51A4 chr11:4967391..4968330 100
nssv548069 supporting_variant:DGVa OR51A2 chr11:4976004..4976943 100
nsv471359 toplevel_variant:DGVa OR51A2 chr11:4976004..4976943 100
nssv547921 supporting_variant:DGVa OR52N1 chr11:5783425..5809305 100
nssv548071 supporting_variant:DGVa OR52N1 chr11:5809086..5810046 100
nsv471361 toplevel_variant:DGVa OR52N1 chr11:5809086..5810046 100
nssv558521 supporting_variant:DGVa UNC93B1 chr11:67758575..67771593 100
nsv482160 toplevel_variant:DGVa UNC93B1 chr11:67758575..67771593 100
nssv558524 supporting_variant:DGVa PATE1 chr11:125616188..125619742 100
nsv482163 toplevel_variant:DGVa PATE1 chr11:125616188..125619742 100
nssv558525 supporting_variant:DGVa PRB1 chr12:11504757..11508524 100
nsv482164 toplevel_variant:DGVa PRB1 chr12:11504757..11508524 100
nssv547904 supporting_variant:DGVa OR4M1 chr14:20023852..20323162 100
nssv548091 supporting_variant:DGVa OR4M1 chr14:20248482..20249422 100
nsv471369 toplevel_variant:DGVa OR4M1 chr14:20248482..20249422 100
nssv558531 supporting_variant:DGVa DHRS4L1 chr14:24505710..24520580 100
nsv482170 toplevel_variant:DGVa DHRS4L1 chr14:24505710..24520580 100
nssv558532 supporting_variant:DGVa SDR39U1 chr14:24908974..24912007 100
nsv482171 toplevel_variant:DGVa SDR39U1 chr14:24908974..24912007 100
nssv558533 supporting_variant:DGVa ACOT1 chr14:74003928..74010498 100
nsv482172 toplevel_variant:DGVa ACOT1 chr14:74003928..74010498 100
nssv547831 supporting_variant:DGVa LOC650137 chr15:22262638..22423288 100
nssv548102 supporting_variant:DGVa LOC650137 chr15:22413702..22414385 100
nsv471374 toplevel_variant:DGVa LOC650137 chr15:22413702..22414385 100
nssv548322 supporting_variant:DGVa CYFIP1 chr15:22805637..22912605 100
nssv548106 supporting_variant:DGVa CYFIP1 chr15:22955755..23003602 100
nsv471376 toplevel_variant:DGVa CYFIP1 chr15:22955755..23003602 100
nssv547871 supporting_variant:DGVa NIPA1 chr15:22994560..23085249 100
nssv548108 supporting_variant:DGVa NIPA1 chr15:23043281..23086843 100
nsv471378 toplevel_variant:DGVa NIPA1 chr15:23043281..23086843 100
nssv547861 supporting_variant:DGVa MNS1 chr15:56659709..56896385 100
nssv558542 supporting_variant:DGVa STUB1 chr16:730115..732767 100
nsv482181 toplevel_variant:DGVa STUB1 chr16:730115..732767 100
nssv558545 supporting_variant:DGVa GNG13 chr16:848041..850733 100
nsv482184 toplevel_variant:DGVa GNG13 chr16:848041..850733 100
nssv548116 supporting_variant:DGVa PKD1 chr16:2138711..2185899 100
nsv471381 toplevel_variant:DGVa PKD1 chr16:2138711..2185899 100
nssv558549 supporting_variant:DGVa ALG1 chr16:5121810..5137378 100
nsv482188 toplevel_variant:DGVa ALG1 chr16:5121810..5137378 100
nssv548119 supporting_variant:DGVa NOMO1 chr16:14927643..14990013 100
nsv471383 toplevel_variant:DGVa NOMO1 chr16:14927643..14990013 100
nssv547926 supporting_variant:DGVa PDXDC1 chr16:15059319..15127605 100
nssv548126 supporting_variant:DGVa PDXDC1 chr16:15068833..15131552 100
nsv482191 toplevel_variant:DGVa PDXDC1 chr16:15068833..15131552 100
nssv548137 supporting_variant:DGVa GIYD1 chr16:30205217..30208880 100
nsv471388 toplevel_variant:DGVa GIYD1 chr16:30205217..30208880 100
nssv548140 supporting_variant:DGVa SULT1A3 chr16:30206469..30215649 100
nsv471389 toplevel_variant:DGVa SULT1A3 chr16:30206469..30215649 100
nssv548156 supporting_variant:DGVa CES1 chr16:55821500..55864062 100
nsv471382 toplevel_variant:DGVa CES1 chr16:55821500..55864062 100
nssv558559 supporting_variant:DGVa CTRB1 chr16:75252884..75258821 100
nsv482198 toplevel_variant:DGVa CTRB1 chr16:75252884..75258821 100
nssv548153 supporting_variant:DGVa TBC1D29 chr17:28886584..28890507 100
nsv471394 toplevel_variant:DGVa TBC1D29 chr17:28886584..28890507 100
nssv547979 supporting_variant:DGVa TBC1D3B chr17:34481814..34674834 100
nssv548163 supporting_variant:DGVa CCL3L1 chr17:34623845..34625730 100
nsv471397 toplevel_variant:DGVa CCL3L1 chr17:34623845..34625730 100
nssv547982 supporting_variant:DGVa TBC1D3C chr17:34725889..34815074 100
nsv471328 toplevel_variant:DGVa TBC1D3C chr17:34725889..34815074 100
nssv548165 supporting_variant:DGVa TBC1D3 chr17:36284019..36294914 100
nsv471398 toplevel_variant:DGVa TBC1D3 chr17:36284019..36294914 100
nssv548172 supporting_variant:DGVa KRT14 chr17:39738533..39743147 100
nsv471400 toplevel_variant:DGVa KRT14 chr17:39738533..39743147 100
nssv547820 supporting_variant:DGVa KIAA1267 chr17:44213224..44293223 100
nsv471492 toplevel_variant:DGVa KIAA1267 chr17:44213224..44293223 100
nssv547834 supporting_variant:DGVa ARL17 chr17:44358055..44425425 100
nssv548174 supporting_variant:DGVa ARL17 chr17:44634620..44657059 100
nsv471401 toplevel_variant:DGVa ARL17 chr17:44634620..44657059 100
nssv547962 supporting_variant:DGVa RNFT1 chr17:57999306..58033220 100
nsv471544 toplevel_variant:DGVa RNFT1 chr17:57999306..58033220 100
nssv548183 supporting_variant:DGVa C17orf58 chr17:65987217..65989765 100
nsv471405 toplevel_variant:DGVa C17orf58 chr17:65987217..65989765 100
nssv558428 supporting_variant:DGVa C20orf134 chr20:32254304..32256330 100
nsv482067 toplevel_variant:DGVa C20orf134 chr20:32254304..32256330 100
nssv558429 supporting_variant:DGVa SEMG1 chr20:43835674..43838408 100
nsv482068 toplevel_variant:DGVa SEMG1 chr20:43835674..43838408 100
nssv547891 supporting_variant:DGVa OR4F17 chr19:60002..259400 100
nsv471520 toplevel_variant:DGVa OR4F17 chr19:60002..259400 100
nssv548190 supporting_variant:DGVa OR4F17 chr19:110679..111596 100
nsv471407 toplevel_variant:DGVa OR4F17 chr19:110679..111596 100
nssv558567 supporting_variant:DGVa KISS1R chr19:917342..921015 100
nsv482206 toplevel_variant:DGVa KISS1R chr19:917342..921015 100
nssv558578 supporting_variant:DGVa ISYNA1 chr19:18545625..18548943 100
nsv482217 toplevel_variant:DGVa ISYNA1 chr19:18545625..18548943 100
nssv548196 supporting_variant:DGVa PSG1 chr19:43371358..43383871 100
nsv471409 toplevel_variant:DGVa PSG1 chr19:43371358..43383871 100
nssv558407 supporting_variant:DGVa SEPW1 chr19:48281842..48287939 100
nsv482046 toplevel_variant:DGVa SEPW1 chr19:48281842..48287939 100
nssv548010 supporting_variant:DGVa USP18 chr22:18643447..18890535 100
nsv471339 toplevel_variant:DGVa USP18 chr22:18643447..18890535 100
nssv558433 supporting_variant:DGVa LOC51233 chr22:23950640..23974487 100
nsv482072 toplevel_variant:DGVa LOC51233 chr22:23950640..23974487 100
nssv558436 supporting_variant:DGVa GSTT1 chr22:24376139..24384284 100
nsv482075 toplevel_variant:DGVa GSTT1 chr22:24376139..24384284 100
nssv558437 supporting_variant:DGVa GGT1 chr22:25003655..25024972 100
nsv482076 toplevel_variant:DGVa GGT1 chr22:25003655..25024972 100
nsv443003 toplevel_variant:DGVa Fosmids AC193142 and AC210900 contain complex alternate structure chr11:55364518..55457755 20
nsv443001 toplevel_variant:DGVa 24.7-kb deletion (fosmid AC193144) removes OR56B2 chr11:5784575..5809283 13
nssv1607679 supporting_variant:DGVa retroCNV insertion of a retrotransposition of C14orf109 mRNA. chr3:169729732..169729759 12
nsv930484 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of C14orf109 mRNA. chr3:169729732..169729759 12
nsv443000 toplevel_variant:DGVa 8.6-kb deletion (fosmid AC193108) removes OR51A2 (also noted by Korbel et al. chr11:4968156..4976768 10
nssv1607698 supporting_variant:DGVa retroCNV insertion of a retrotransposition of UQCR10 mRNA. chr1:109650628..109650654 6
nsv930465 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of UQCR10 mRNA. chr1:109650628..109650654 6
nssv1607680 supporting_variant:DGVa retroCNV insertion of a retrotransposition of CACNA1B mRNA. chr1:147499917..147500462 6
nsv930466 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of CACNA1B mRNA. chr1:147499917..147500462 6
nsv442997 toplevel_variant:DGVa unduplicated (b36.1). OR2G6 is in unique sequence flanked by a recent inverted ~100-kb duplication chr1:248684948..248685898 6
nssv1607694 supporting_variant:DGVa retroCNV insertion of a retrotransposition of TMEM126B mRNA. chr10:12256152..12256177 6
nsv930475 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of TMEM126B mRNA. chr10:12256152..12256177 6
nssv1607686 supporting_variant:DGVa retroCNV insertion of a retrotransposition of KRR1 mRNA. chr10:23199446..23199474 6
nsv930492 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of KRR1 mRNA. chr10:23199446..23199474 6
nssv1607690 supporting_variant:DGVa retroCNV insertion of a retrotransposition of MIER1 mRNA. chr16:77788935..77788972 6
nsv930499 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of MIER1 mRNA. chr16:77788935..77788972 6
nssv1607695 supporting_variant:DGVa retroCNV insertion of a retrotransposition of TMEM126B mRNA. chrX:121150771..121150796 6
nsv930500 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of TMEM126B mRNA. chrX:121150771..121150796 6
nssv1607664 supporting_variant:DGVa A processed transcript of the FAM103A1 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr6:166998987..167000150 3
nsv930495 toplevel_variant:DGVa A processed transcript of the FAM103A1 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr6:166998987..167000150 3
nssv1607665 supporting_variant:DGVa A processed transcript of the FAM133B gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr5:60670885..60672859 1
nsv930487 toplevel_variant:DGVa A processed transcript of the FAM133B gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr5:60670885..60672859 1
nssv1607662 supporting_variant:DGVa A processed transcript of the CKS1B gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr5:61807580..61808309 1
nsv930480 toplevel_variant:DGVa A processed transcript of the CKS1B gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr5:61807580..61808309 1
nssv1607669 supporting_variant:DGVa A processed transcript of the RPL13A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr10:98510023..98510680 1
nsv930478 toplevel_variant:DGVa A processed transcript of the RPL13A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr10:98510023..98510680 1
nssv1607667 supporting_variant:DGVa A processed transcript of the GNG10 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr11:10292761..10293730 1
nsv930477 toplevel_variant:DGVa A processed transcript of the GNG10 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr11:10292761..10293730 1
nssv1607670 supporting_variant:DGVa A processed transcript of the RPL18A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr12:104659052..104659669 1
nsv930479 toplevel_variant:DGVa A processed transcript of the RPL18A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr12:104659052..104659669 1
nssv1607671 supporting_variant:DGVa A processed transcript of the RPL21 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr16:9250199..9250778 1
nsv930470 toplevel_variant:DGVa A processed transcript of the RPL21 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr16:9250199..9250778 1
nssv1607668 supporting_variant:DGVa A processed transcript of the ITGB1 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr19:14732345..14733056 1
nsv930502 toplevel_variant:DGVa A processed transcript of the ITGB1 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr19:14732345..14733056 1
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- Tracks
- Breakpoints
   
Breakpoint annotations from Lam et al (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?] Annotations from Conrad et al [?] Breakpoint annotations from Pang 2012 (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?]
- CGH Arrays
   
Agilent 244k [?] Clones on SMRT BAC Array [?] 
- CN Assays
   
Life Technologies TaqMan Copy Number Assays [?]  
- Chromosome
   
Cytogenetic Bands [?] Assembly [?] Gap [?]
- Clones
   
BAC End Pairs [?] Fosmid End Pairs [?] 
- Disease
   
ISCA Curated clinically relevant regions [?] Disease Genes (OMIM) [?] DECIPHER: Chromosomal Imbalance and Phenotype in Humans (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?]
ISCA Clinical cytogenetic testing (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?] DECIPHER Genomic Disorders [?] 
- Gene
   
RefSeq Genes [?] mRNA [?] microRNA [?]
- General
   
Personal Genome Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] SNPs [?] 
dbRIP [?] RepeatMasker [?] 
- SNP Arrays
   
AFFY SNP Array 5.0 [?] ILMN HumanHap 300 [?] ILMN HumanHap 650Y [?]
AFFY SNP Array 6.0 [?] ILMN HumanHap 550 [?] ILMN Human 660W [?]
AFFY CytoScan HD [?] ILMN Human 610 Quad [?] ILMN HumanHap 1M [?]
- Segmental Duplications
   
UCSC segmental duplications [?]  
- Study Variants
   
DGV Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] Unannotated Studies (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] DGV Gold Standard Variants (blue=Gain; red=Loss; brown=Gain+Loss) [?]
Supporting Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inverison;Black:Unknown) [?] Nat. Rev. Gen. CNV Map - Inclusive (blue=Gain; red=Loss; brown=Gain+Loss) [?] OPGP Affymetrix CytoHD Variants (blue=Gain; red=Loss; solidbox=AFFY_FILTER; solidline=MULTI_ALGO; dashedline=ONLY_CHAS) [?]
DGV Version 1 Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] Nat. Rev. Gen. CNV Map - Stringent (blue=Gain; red=Loss; brown=Gain+Loss) [?] 
- Overview
   
Chromosome (overview)   

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