A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587975



Internal ID16028698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46241321..46410929hg38UCSC Ensembl
Innerchr21:47661235..47830843hg19UCSC Ensembl
Innerchr21:46485663..46655271hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38169609
hg19169609
hg18169609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949342
Samples
Known GenesC21orf58, MCM3AP, MCM3AP-AS1, PCNT, YBEY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587975
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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