A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949347



Internal ID15896617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46295382..46302616hg38UCSC Ensembl
Innerchr21:47715296..47722530hg19UCSC Ensembl
Innerchr21:46539724..46546958hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387235
hg197235
hg187235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587980
Supporting Variants
Samples
Known GenesC21orf58, YBEY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949347
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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