A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587953



Internal ID16375362
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 StatusM
Merged Variants
Supporting Variantsnssv949305
Samples
Known GenesCOL6A2, FTCD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587953
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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