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 146 regions match your request.

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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Name Type Description Position Match Score
nssv548306 supporting_variant:DGVa LOC100132832 chr7:76668797..76682355 200
nsv471448 toplevel_variant:DGVa LOC100132832 chr7:76668797..76682355 200
nssv558548 supporting_variant:DGVa PRSS33 chr16:2833954..2836708 200
nsv482187 toplevel_variant:DGVa PRSS33 chr16:2833954..2836708 200
nssv548143 supporting_variant:DGVa TP53TG3 chr16:33204980..33208179 200
nsv471390 toplevel_variant:DGVa TP53TG3 chr16:33204980..33208179 200
nssv548056 supporting_variant:DGVa CCL3L3 chr17:34481814..34674834 200
nssv547854 supporting_variant:DGVa LRRC37A3 chr17:62780539..62916265 200
nsv471504 toplevel_variant:DGVa LRRC37A3 chr17:62780539..62916265 200
nssv558433 supporting_variant:DGVa LOC51233 chr22:23950640..23974487 200
nsv482072 toplevel_variant:DGVa LOC51233 chr22:23950640..23974487 200
nssv558496 supporting_variant:DGVa ATAD3C chr1:1385069..1405538 100
nsv482135 toplevel_variant:DGVa ATAD3C chr1:1385069..1405538 100
nssv558507 supporting_variant:DGVa ATAD3B chr1:1407164..1431581 100
nsv482146 toplevel_variant:DGVa ATAD3B chr1:1407164..1431581 100
nssv558518 supporting_variant:DGVa ATAD3A chr1:1447555..1470064 100
nsv482157 toplevel_variant:DGVa ATAD3A chr1:1447555..1470064 100
nssv558464 supporting_variant:DGVa IGSF3 chr1:117117031..117210314 100
nsv482103 toplevel_variant:DGVa IGSF3 chr1:117117031..117210314 100
nssv558475 supporting_variant:DGVa FAM108A3 chr1:146075476..146080233 100
nsv482114 toplevel_variant:DGVa FAM108A3 chr1:146075476..146080233 100
nssv547821 supporting_variant:DGVa LCE3B chr1:152552928..152590274 100
nssv548044 supporting_variant:DGVa LCE3C chr1:152573208..152573491 100
nsv471350 toplevel_variant:DGVa LCE3C chr1:152573208..152573491 100
nssv558499 supporting_variant:DGVa FCGR3B chr1:161511551..161519800 100
nssv558500 supporting_variant:DGVa FCGR3A chr1:161511551..161520413 100
nssv548050 supporting_variant:DGVa CFHR3 chr1:196743930..196762872 100
nsv471352 toplevel_variant:DGVa CFHR3 chr1:196743930..196762872 100
nssv558411 supporting_variant:DGVa TCF23 chr2:27372002..27375733 100
nsv482050 toplevel_variant:DGVa TCF23 chr2:27372002..27375733 100
nssv558416 supporting_variant:DGVa MGC50273 chr2:132552534..132559234 100
nsv482055 toplevel_variant:DGVa MGC50273 chr2:132552534..132559234 100
nssv558443 supporting_variant:DGVa AMIGO3 chr3:49754965..49757123 100
nsv482082 toplevel_variant:DGVa AMIGO3 chr3:49754965..49757123 100
nssv547835 supporting_variant:DGVa LOC728340 chr5:68851245..69320933 100
nsv471498 toplevel_variant:DGVa LOC728340 chr5:68851245..69320933 100
nssv558452 supporting_variant:DGVa ZNF300 chr5:150273964..150284391 100
nsv482091 toplevel_variant:DGVa ZNF300 chr5:150273964..150284391 100
nssv548284 supporting_variant:DGVa BTNL3 chr5:180415901..180433726 100
nsv471441 toplevel_variant:DGVa BTNL3 chr5:180415901..180433726 100
nssv548296 supporting_variant:DGVa PMS2L3 chr7:75137070..75157394 100
nsv471445 toplevel_variant:DGVa PMS2L3 chr7:75137070..75157394 100
nssv548020 supporting_variant:DGVa ZP3 chr7:76063179..76134351 100
nssv558468 supporting_variant:DGVa UPK3B chr7:76139745..76157197 100
nsv482107 toplevel_variant:DGVa UPK3B chr7:76139745..76157197 100
nssv547939 supporting_variant:DGVa POMZP3 chr7:76147350..76808780 100
nssv548303 supporting_variant:DGVa POMZP3 chr7:76239304..76256620 100
nsv471447 toplevel_variant:DGVa POMZP3 chr7:76239304..76256620 100
nssv558470 supporting_variant:DGVa CYP3A4 chr7:99354604..99381808 100
nsv482109 toplevel_variant:DGVa CYP3A4 chr7:99354604..99381808 100
nssv547936 supporting_variant:DGVa POLR2J3 chr7:102114386..102418049 100
nssv548316 supporting_variant:DGVa LOC136157 chr7:124116425..124117009 100
nsv471452 toplevel_variant:DGVa LOC136157 chr7:124116425..124117009 100
nssv547803 supporting_variant:DGVa FLJ43692 chr7:143875685..144074379 100
nssv548323 supporting_variant:DGVa FLJ43692 chr7:143883677..143892736 100
nsv471454 toplevel_variant:DGVa FLJ43692 chr7:143883677..143892736 100
nssv547838 supporting_variant:DGVa LOC728358 chr8:6828591..6866195 100
nsv471499 toplevel_variant:DGVa LOC728358 chr8:6828591..6866195 100
nssv558480 supporting_variant:DGVa DEFA3 chr8:6873395..6875816 100
nsv482119 toplevel_variant:DGVa DEFA3 chr8:6873395..6875816 100
nssv548367 supporting_variant:DGVa DEFB103B chr8:7656169..7739590 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
nssv548345 supporting_variant:DGVa DUB3 chr8:11994677..11996269 100
nsv471462 toplevel_variant:DGVa DUB3 chr8:11994677..11996269 100
nssv548359 supporting_variant:DGVa CNTNAP3 chr9:39072766..39288300 100
nsv471466 toplevel_variant:DGVa CNTNAP3 chr9:39072766..39288300 100
nssv558520 supporting_variant:DGVa TIGD3 chr11:65122282..65125082 100
nsv482159 toplevel_variant:DGVa TIGD3 chr11:65122282..65125082 100
nssv558521 supporting_variant:DGVa UNC93B1 chr11:67758575..67771593 100
nsv482160 toplevel_variant:DGVa UNC93B1 chr11:67758575..67771593 100
nssv548081 supporting_variant:DGVa TAS2R43 chr12:11243886..11244912 100
nsv471366 toplevel_variant:DGVa TAS2R43 chr12:11243886..11244912 100
nssv558527 supporting_variant:DGVa TUBA3C chr13:19747920..19755936 100
nsv482166 toplevel_variant:DGVa TUBA3C chr13:19747920..19755936 100
nssv547918 supporting_variant:DGVa OR4Q3 chr14:20023852..20323162 100
nssv558532 supporting_variant:DGVa SDR39U1 chr14:24908974..24912007 100
nsv482171 toplevel_variant:DGVa SDR39U1 chr14:24908974..24912007 100
nssv558534 supporting_variant:DGVa LOC727832 chr15:20737094..20747114 100
nsv482173 toplevel_variant:DGVa LOC727832 chr15:20737094..20747114 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
nssv558535 supporting_variant:DGVa LOC283767 chr15:22736246..22746002 100
nsv482174 toplevel_variant:DGVa LOC283767 chr15:22736246..22746002 100
nssv558545 supporting_variant:DGVa GNG13 chr16:848041..850733 100
nsv482184 toplevel_variant:DGVa GNG13 chr16:848041..850733 100
nssv548129 supporting_variant:DGVa LOC100132247 chr16:22524844..22547828 100
nsv471386 toplevel_variant:DGVa LOC100132247 chr16:22524844..22547828 100
nssv548140 supporting_variant:DGVa SULT1A3 chr16:30206469..30215649 100
nsv471389 toplevel_variant:DGVa SULT1A3 chr16:30206469..30215649 100
nssv558553 supporting_variant:DGVa ORAI3 chr16:30960405..30966258 100
nsv482192 toplevel_variant:DGVa ORAI3 chr16:30960405..30966258 100
nssv547841 supporting_variant:DGVa LOC729355 chr16:32654337..33525342 100
nsv471500 toplevel_variant:DGVa LOC729355 chr16:32654337..33525342 100
nssv548157 supporting_variant:DGVa CCL3 chr17:34415603..34417506 100
nsv471395 toplevel_variant:DGVa CCL3 chr17:34415603..34417506 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
nssv547848 supporting_variant:DGVa LRRC37A chr17:44358055..44425425 100
nssv547851 supporting_variant:DGVa LRRC37A2 chr17:44559685..44643344 100
nssv548186 supporting_variant:DGVa TCEB3C chr18:44554573..44556449 100
nsv471406 toplevel_variant:DGVa TCEB3C chr18:44554573..44556449 100
nssv558428 supporting_variant:DGVa C20orf134 chr20:32254304..32256330 100
nsv482067 toplevel_variant:DGVa C20orf134 chr20:32254304..32256330 100
nssv558572 supporting_variant:DGVa MBD3L2 chr19:7049351..7051746 100
nsv482211 toplevel_variant:DGVa MBD3L2 chr19:7049351..7051746 100
nssv558575 supporting_variant:DGVa ZNF439 chr19:11976844..11980306 100
nsv482214 toplevel_variant:DGVa ZNF439 chr19:11976844..11980306 100
nssv558577 supporting_variant:DGVa RASAL3 chr19:15562438..15575382 100
nsv482216 toplevel_variant:DGVa RASAL3 chr19:15562438..15575382 100
nssv558583 supporting_variant:DGVa PSG3 chr19:43225795..43244668 100
nsv482222 toplevel_variant:DGVa PSG3 chr19:43225795..43244668 100
nssv547959 supporting_variant:DGVa RIMBP3 chr22:20305447..20504066 100
nssv558438 supporting_variant:DGVa APOBEC3B chr22:39378405..39388783 100
nsv482077 toplevel_variant:DGVa APOBEC3B chr22:39378405..39388783 100
nssv548169 supporting_variant:DGVa KRTAP9-3 chr17:39388715..39389705 33
nsv471399 toplevel_variant:DGVa KRTAP9-3 chr17:39388715..39389705 33
nsv443001 toplevel_variant:DGVa 24.7-kb deletion (fosmid AC193144) removes OR56B2 chr11:5784575..5809283 6
nsv443003 toplevel_variant:DGVa Fosmids AC193142 and AC210900 contain complex alternate structure chr11:55364518..55457755 6
nssv1607692 supporting_variant:DGVa retroCNV insertion of a retrotransposition of SKA3 mRNA. chr11:108585737..108585763 6
nsv930473 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of SKA3 mRNA. chr11:108585737..108585763 6
nssv1607688 supporting_variant:DGVa retroCNV insertion of a retrotransposition of MATR3 mRNA. chr12:113886996..113887027 6
nsv930494 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of MATR3 mRNA. chr12:113886996..113887027 6
nssv1607697 supporting_variant:DGVa retroCNV insertion of a retrotransposition of TYRO3 mRNA. chr13:44069808..44069836 6
nsv930476 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of TYRO3 mRNA. chr13:44069808..44069836 6
nssv1607681 supporting_variant:DGVa retroCNV insertion of a retrotransposition of CBX3 mRNA. chr15:40854166..40854191 6
nsv930488 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of CBX3 mRNA. chr15:40854166..40854191 6
nsv442997 toplevel_variant:DGVa unduplicated (b36.1). OR2G6 is in unique sequence flanked by a recent inverted ~100-kb duplication chr1:248684948..248685898 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 3
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 3
nsv443000 toplevel_variant:DGVa 8.6-kb deletion (fosmid AC193108) removes OR51A2 (also noted by Korbel et al. chr11:4968156..4976768 3
nsv442999 toplevel_variant:DGVa undeleted (b36.1). OR2T11 is in one arm of a recent inverted ~100-kb duplication (OR deleted from other arm) chr1:248789479..248790429 2
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 1
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 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
nssv1607674 supporting_variant:DGVa A processed transcript of the RPL36A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr11:16996261..16996591 1
nsv930483 toplevel_variant:DGVa A processed transcript of the RPL36A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr11:16996261..16996591 1
nssv1607673 supporting_variant:DGVa A processed transcript of the RPL3 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr14:99439148..99439638 1
nsv930482 toplevel_variant:DGVa A processed transcript of the RPL3 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr14:99439148..99439638 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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