A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587508



Internal ID16028231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41471061..41475776hg38UCSC Ensembl
Innerchr21:42842988..42847703hg19UCSC Ensembl
Innerchr21:41764858..41769573hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384716
hg194716
hg184716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7837n54
Supporting Variantsnssv946819, nssv946820
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587508
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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