A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587933



Internal ID16375342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45981279..45992789hg38UCSC Ensembl
Innerchr21:47401193..47412703hg19UCSC Ensembl
Innerchr21:46225621..46237131hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811511
hg1911511
hg1811511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949282
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587933
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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