A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587676



Internal ID16028399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43404974..43419802hg38UCSC Ensembl
Innerchr21:44824854..44839682hg19UCSC Ensembl
Innerchr21:43649282..43664110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814829
hg1914829
hg1814829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7868n54
Supporting Variantsnssv947427
Samples
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587676
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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