A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587501



Internal ID16028224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41470061..41475648hg38UCSC Ensembl
Innerchr21:42841988..42847575hg19UCSC Ensembl
Innerchr21:41763858..41769445hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385588
hg195588
hg185588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7836n54
Supporting Variantsnssv946796, nssv946795, nssv946797
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587501
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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