A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587506



Internal ID16028229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41471061..41475581hg38UCSC Ensembl
Innerchr21:42842988..42847508hg19UCSC Ensembl
Innerchr21:41764858..41769378hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384521
hg194521
hg184521
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946810, nssv946812, nssv946811, nssv946809, nssv946814, nssv946813
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587506
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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