A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587690



Internal ID16028413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43505454..43644719hg38UCSC Ensembl
Innerchr21:44925334..45064600hg19UCSC Ensembl
Innerchr21:43749762..43889028hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38139266
hg19139267
hg18139267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152421
SamplesHGDP01270
Known GenesHSF2BP, MIR6070
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587690
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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