A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949305



Internal ID16243261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46130681..46136895hg38UCSC Ensembl
Innerchr21:47550595..47556809hg19UCSC Ensembl
Innerchr21:46375023..46381237hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386215
hg196215
hg186215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587953
Supporting Variants
Samples
Known GenesCOL6A2, FTCD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949305
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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