A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587505



Internal ID16028228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41471061..41475509hg38UCSC Ensembl
Innerchr21:42842988..42847436hg19UCSC Ensembl
Innerchr21:41764858..41769306hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384449
hg194449
hg184449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7837n54
Supporting Variantsnssv946802, nssv946806, nssv946807, nssv946805, nssv946803, nssv946808, nssv946804
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587505
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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