A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587516



Internal ID16028239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41474022..41475776hg38UCSC Ensembl
Innerchr21:42845949..42847703hg19UCSC Ensembl
Innerchr21:41767819..41769573hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381755
hg191755
hg181755
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7839n54
Supporting Variantsnssv946967, nssv946968, nssv946963, nssv946962, nssv946964, nssv946965, nssv946966, nssv946961
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587516
Frequency
Sample Size17421
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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