A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948017



Internal ID15895287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43708309..43761565hg38UCSC Ensembl
Innerchr21:45128190..45181446hg19UCSC Ensembl
Innerchr21:43952618..44005874hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853257
hg1953257
hg1853257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587701
Supporting Variants
Samples
Known GenesPDXK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948017
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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