A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520816



Internal ID15101423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184855353..184863129hg38UCSC Ensembl
Innerchr3:184573141..184580917hg19UCSC Ensembl
Innerchr3:186055835..186063611hg18UCSC Ensembl
Innerchr3:186055843..186063619hg17UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg387777
hg197777
hg187777
hg177777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697628
Samples
Known GenesVPS8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520816
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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