A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587575



Internal ID16374984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41887220..41907962hg38UCSC Ensembl
Innerchr21:43307329..43328071hg19UCSC Ensembl
Innerchr21:42180398..42201140hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3820743
hg1920743
hg1820743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152410
SamplesHGDP00210
Known GenesC2CD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587575
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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