A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151413



Internal ID15877215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44863754..44891349hg38UCSC Ensembl
Innerchr21:46283669..46311264hg19UCSC Ensembl
Innerchr21:45108097..45135692hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3827596
hg1927596
hg1827596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587814
Supporting Variants
SamplesHGDP00951
Known GenesITGB2, PTTG1IP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151413
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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