A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696364



Internal ID15433016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18308012..18313088hg38UCSC Ensembl
Innerchr21:19680329..19685405hg19UCSC Ensembl
Innerchr21:18602200..18607276hg18UCSC Ensembl
Innerchr21:18602200..18607276hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg385077
hg195077
hg185077
hg175077
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518906
Supporting Variants
Samples
Known GenesTMPRSS15
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696364
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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