A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694462



Internal ID15431114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45999098..46003475hg38UCSC Ensembl
Innerchr21:47419012..47423389hg19UCSC Ensembl
Innerchr21:46243440..46247817hg18UCSC Ensembl
Innerchr21:46243440..46247817hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384378
hg194378
hg184378
hg174378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521579
Supporting Variants
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694462
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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