A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520930



Internal ID15101537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131319806..131477413hg38UCSC Ensembl
Innerchr2:132077379..132234986hg19UCSC Ensembl
Innerchr2:131793849..131951456hg18UCSC Ensembl
Innerchr2:131911111..132068718hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38157608
hg19157608
hg18157608
hg17157608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697694
Samples
Known GenesLINC01120, LOC401010, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520930
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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