A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520421



Internal ID15101028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:35297999..35621950hg38UCSC Ensembl
Innerchr8:35155517..35479468hg19UCSC Ensembl
Innerchr8:35275059..35599010hg18UCSC Ensembl
Innerchr8:35275059..35599010hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38323952
hg19323952
hg18323952
hg17323952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689820, nssv671338
Samples
Known GenesUNC5D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520421
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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