A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587139



Internal ID16374548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18381189..18411575hg38UCSC Ensembl
Innerchr21:19753506..19783892hg19UCSC Ensembl
Innerchr21:18675377..18705763hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3830387
hg1930387
hg1830387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150979
Samples1787431198_A
Known GenesTMPRSS15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587139
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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