A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946817



Internal ID15894087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41471061..41475648hg38UCSC Ensembl
Innerchr21:42842988..42847575hg19UCSC Ensembl
Innerchr21:41764858..41769445hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384588
hg194588
hg184588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587507
Supporting Variants
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946817
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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