A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587657



Internal ID16028380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42752699..43087910hg38UCSC Ensembl
Innerchr21:44172809..44508020hg19UCSC Ensembl
Innerchr21:43045878..43381089hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38335212
hg19335212
hg18335212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv947402
Samples
Known GenesCBS, NDUFV3, PDE9A, PKNOX1, WDR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587657
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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