A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946690



Internal ID15893960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34359171..34532399hg38UCSC Ensembl
Innerchr21:35731470..35904697hg19UCSC Ensembl
Innerchr21:34653340..34826567hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38173229
hg19173228
hg18173228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587426
Supporting Variants
Samples
Known GenesC21orf140, KCNE1, KCNE2, RCAN1, SMIM11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946690
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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