A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587523



Internal ID16028246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41474235..41475394hg38UCSC Ensembl
Innerchr21:42846162..42847321hg19UCSC Ensembl
Innerchr21:41768032..41769191hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381160
hg191160
hg181160
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946999, nssv946996, nssv946995, nssv946997, nssv946998, nssv947000
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587523
Frequency
Sample Size17421
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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