A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587936



Internal ID16375345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45991017..45997419hg38UCSC Ensembl
Innerchr21:47410931..47417333hg19UCSC Ensembl
Innerchr21:46235359..46241761hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386403
hg196403
hg186403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7920n54
Supporting Variantsnssv949285, nssv949286
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587936
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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