A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697930



Internal ID15087896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34384531..34515061hg38UCSC Ensembl
Innerchr21:35756829..35887359hg19UCSC Ensembl
Innerchr21:34678699..34809229hg18UCSC Ensembl
Innerchr21:34678699..34809229hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38130531
hg19130531
hg18130531
hg17130531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521323
Supporting Variants
Samples
Known GenesC21orf140, KCNE1, SMIM11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697930
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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