A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948321



Internal ID16242277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44302559..44344514hg38UCSC Ensembl
Innerchr21:45722442..45764397hg19UCSC Ensembl
Innerchr21:44546870..44588825hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3841956
hg1941956
hg1841956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587780
Supporting Variants
Samples
Known GenesC21orf2, PFKL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948321
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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