A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520488



Internal ID15101095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:69055601..69064854hg38UCSC Ensembl
Innerchr3:69104752..69114005hg19UCSC Ensembl
Innerchr3:69187442..69196695hg18UCSC Ensembl
Innerchr3:69187442..69196695hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg389254
hg199254
hg189254
hg179254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671813, nssv687300
Samples
Known GenesUBA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520488
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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