A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587662



Internal ID16028385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43029231..43063662hg38UCSC Ensembl
Innerchr21:44449341..44483772hg19UCSC Ensembl
Innerchr21:43322410..43356841hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3834432
hg1934432
hg1834432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152415
SamplesHGDP01240
Known GenesCBS, PKNOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587662
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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