A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694353



Internal ID15084319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46163592..46461396hg38UCSC Ensembl
Innerchr21:47583506..47881309hg19UCSC Ensembl
Innerchr21:46407934..46705737hg18UCSC Ensembl
Innerchr21:46407934..46705737hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38297805
hg19297804
hg18297804
hg17297804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519904
Supporting Variants
Samples
Known GenesC21orf58, DIP2A, LSS, MCM3AP, MCM3AP-AS1, PCNT, SPATC1L, YBEY
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694353
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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