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 113 regions match your request.

 
 
 
 
 
 
 
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chr19
 
 
chr22

Name Type Description Position Match Score
nssv558466 supporting_variant:DGVa LOC442590 chr7:75124299..75133628 200
nsv482105 toplevel_variant:DGVa LOC442590 chr7:75124299..75133628 200
nssv548362 supporting_variant:DGVa FOXD4L4 chr9:70426625..70429731 200
nsv471467 toplevel_variant:DGVa FOXD4L4 chr9:70426625..70429731 200
nssv548074 supporting_variant:DGVa OR4P4 chr11:55405834..55406771 200
nsv471363 toplevel_variant:DGVa OR4P4 chr11:55405834..55406771 200
nssv547915 supporting_variant:DGVa OR4N4 chr15:22262638..22423288 200
nssv547901 supporting_variant:DGVa OR4F4 chr15:102401233..102518784 200
nsv471523 toplevel_variant:DGVa OR4F4 chr15:102401233..102518784 200
nssv547887 supporting_variant:DGVa OR4F16 chr1:318139..470924 100
nsv471518 toplevel_variant:DGVa OR4F16 chr1:318139..470924 100
nssv547897 supporting_variant:DGVa OR4F29 chr1:522139..756783 100
nsv471522 toplevel_variant:DGVa OR4F29 chr1:522139..756783 100
nssv548233 supporting_variant:DGVa CFHR4 chr1:196782097..196890345 100
nssv548055 supporting_variant:DGVa CFHR4 chr1:196857212..196887762 100
nsv471354 toplevel_variant:DGVa CFHR4 chr1:196857212..196887762 100
nssv558413 supporting_variant:DGVa TEKT4 chr2:95537232..95542568 100
nsv482052 toplevel_variant:DGVa TEKT4 chr2:95537232..95542568 100
nssv558414 supporting_variant:DGVa SMPD4 chr2:130908980..130939694 100
nsv482053 toplevel_variant:DGVa SMPD4 chr2:130908980..130939694 100
nssv547835 supporting_variant:DGVa LOC728340 chr5:68851245..69320933 100
nsv471498 toplevel_variant:DGVa LOC728340 chr5:68851245..69320933 100
nssv558454 supporting_variant:DGVa FGFR4 chr5:176516551..176525124 100
nsv482093 toplevel_variant:DGVa FGFR4 chr5:176516551..176525124 100
nssv548281 supporting_variant:DGVa LOC646227 chr5:180409218..180413252 100
nsv471440 toplevel_variant:DGVa LOC646227 chr5:180409218..180413252 100
nssv548286 supporting_variant:DGVa OR4F16 chr5:180794288..180795224 100
nsv471442 toplevel_variant:DGVa OR4F16 chr5:180794288..180795224 100
nssv547956 supporting_variant:DGVa C4A chr6:31958022..32013903 100
nssv548290 supporting_variant:DGVa C4A chr6:31982572..32003194 100
nsv471443 toplevel_variant:DGVa C4A chr6:31982572..32003194 100
nssv548293 supporting_variant:DGVa OR2A4 chr6:132021609..132022541 100
nsv471444 toplevel_variant:DGVa OR2A4 chr6:132021609..132022541 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
nssv548023 supporting_variant:DGVa CCDC146 chr7:76147350..76808780 100
nssv558470 supporting_variant:DGVa CYP3A4 chr7:99354604..99381808 100
nsv482109 toplevel_variant:DGVa CYP3A4 chr7:99354604..99381808 100
nssv547952 supporting_variant:DGVa RASA4 chr7:102114386..102418049 100
nssv548313 supporting_variant:DGVa RASA4 chr7:102220093..102257205 100
nsv471451 toplevel_variant:DGVa RASA4 chr7:102220093..102257205 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
nssv547894 supporting_variant:DGVa OR4F21 chr8:10002..170543 100
nsv471521 toplevel_variant:DGVa OR4F21 chr8:10002..170543 100
nssv548369 supporting_variant:DGVa DEFB104A chr8:7656169..7739590 100
nssv548383 supporting_variant:DGVa DEFB4 chr8:7751650..7787590 100
nsv471477 toplevel_variant:DGVa DEFB4 chr8:7751650..7787590 100
nssv558488 supporting_variant:DGVa LRRC14 chr8:145743391..145750557 100
nsv482127 toplevel_variant:DGVa LRRC14 chr8:145743391..145750557 100
nssv548395 supporting_variant:DGVa DUX4 chr10:135434120..135519371 100
nssv548063 supporting_variant:DGVa DUX4 chr10:135483679..135491883 100
nsv471357 toplevel_variant:DGVa DUX4 chr10:135483679..135491883 100
nssv558515 supporting_variant:DGVa EFCAB4A chr11:827585..831991 100
nsv482154 toplevel_variant:DGVa EFCAB4A chr11:827585..831991 100
nssv548066 supporting_variant:DGVa OR51A4 chr11:4967391..4968330 100
nsv471358 toplevel_variant:DGVa OR51A4 chr11:4967391..4968330 100
nssv548073 supporting_variant:DGVa OR52E4 chr11:5905523..5906459 100
nsv471362 toplevel_variant:DGVa OR52E4 chr11:5905523..5906459 100
nssv548075 supporting_variant:DGVa OR4S2 chr11:55418380..55419315 100
nsv471364 toplevel_variant:DGVa OR4S2 chr11:55418380..55419315 100
nssv548081 supporting_variant:DGVa TAS2R43 chr12:11243886..11244912 100
nsv471366 toplevel_variant:DGVa TAS2R43 chr12:11243886..11244912 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
nssv548094 supporting_variant:DGVa OR4K2 chr14:20344427..20345371 100
nsv471370 toplevel_variant:DGVa OR4K2 chr14:20344427..20345371 100
nssv548096 supporting_variant:DGVa OR4K5 chr14:20388766..20389735 100
nsv471372 toplevel_variant:DGVa OR4K5 chr14:20388766..20389735 100
nssv558530 supporting_variant:DGVa DHRS4L2 chr14:24458027..24475619 100
nsv482169 toplevel_variant:DGVa DHRS4L2 chr14:24458027..24475619 100
nssv558531 supporting_variant:DGVa DHRS4L1 chr14:24505710..24520580 100
nsv482170 toplevel_variant:DGVa DHRS4L1 chr14:24505710..24520580 100
nssv558544 supporting_variant:DGVa WDR24 chr16:734702..740400 100
nsv482183 toplevel_variant:DGVa WDR24 chr16:734702..740400 100
nssv548129 supporting_variant:DGVa LOC100132247 chr16:22524844..22547828 100
nsv471386 toplevel_variant:DGVa LOC100132247 chr16:22524844..22547828 100
nssv548160 supporting_variant:DGVa CCL4 chr17:34431220..34433014 100
nsv471396 toplevel_variant:DGVa CCL4 chr17:34431220..34433014 100
nssv548089 supporting_variant:DGVa CCL4L2 chr17:34481814..34674834 100
nssv548172 supporting_variant:DGVa KRT14 chr17:39738533..39743147 100
nsv471400 toplevel_variant:DGVa KRT14 chr17:39738533..39743147 100
nssv558427 supporting_variant:DGVa CST4 chr20:23666277..23669662 100
nsv482066 toplevel_variant:DGVa CST4 chr20:23666277..23669662 100
nssv558428 supporting_variant:DGVa C20orf134 chr20:32254304..32256330 100
nsv482067 toplevel_variant:DGVa C20orf134 chr20:32254304..32256330 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
nssv558575 supporting_variant:DGVa ZNF439 chr19:11976844..11980306 100
nsv482214 toplevel_variant:DGVa ZNF439 chr19:11976844..11980306 100
nssv558405 supporting_variant:DGVa PSG4 chr19:43696856..43709790 100
nsv482044 toplevel_variant:DGVa PSG4 chr19:43696856..43709790 100
nssv548219 supporting_variant:DGVa KIR2DS4 chr19:55344174..55360023 100
nsv471417 toplevel_variant:DGVa KIR2DS4 chr19:55344174..55360023 100
nssv558408 supporting_variant:DGVa RFPL4A chr19:56270507..56274539 100
nsv482047 toplevel_variant:DGVa RFPL4A chr19:56270507..56274539 100
nssv547929 supporting_variant:DGVa PI4KA chr22:21032637..21072748 100
nsv471533 toplevel_variant:DGVa PI4KA chr22:21032637..21072748 100
nsv443001 toplevel_variant:DGVa 24.7-kb deletion (fosmid AC193144) removes OR56B2 chr11:5784575..5809283 20
nssv1607699 supporting_variant:DGVa retroCNV insertion of a retrotransposition of ZNF664 mRNA. chr2:3931683..3931712 6
nsv930501 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of ZNF664 mRNA. chr2:3931683..3931712 6
nssv1607679 supporting_variant:DGVa retroCNV insertion of a retrotransposition of C14orf109 mRNA. chr3:169729732..169729759 6
nsv930484 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of C14orf109 mRNA. chr3:169729732..169729759 6
nssv1607687 supporting_variant:DGVa retroCNV insertion of a retrotransposition of LAPTM4B mRNA. chr6:167333951..167333973 6
nsv930493 toplevel_variant:DGVa retroCNV insertion of a retrotransposition of LAPTM4B mRNA. chr6:167333951..167333973 6
nsv443002 toplevel_variant:DGVa 9.5-kb deletion (fosmid AC206475) removes OR52E8 chr11:5873985..5883493 6
nsv443003 toplevel_variant:DGVa Fosmids AC193142 and AC210900 contain complex alternate structure chr11:55364518..55457755 6
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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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