A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949288



Internal ID16243244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45992789..45999098hg38UCSC Ensembl
Innerchr21:47412703..47419012hg19UCSC Ensembl
Innerchr21:46237131..46243440hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386310
hg196310
hg186310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587938
Supporting Variants
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949288
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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