A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527387



Internal ID15454680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:214984..310716hg38UCSC Ensembl
Innerchr8:164984..260716hg19UCSC Ensembl
Innerchr8:154984..250716hg18UCSC Ensembl
Innerchr8:154984..250716hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3895733
hg1995733
hg1895733
hg1795733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703822
Samples
Known GenesRPL23AP53, ZNF596
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527387
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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