A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587935



Internal ID16375344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45989589..46068473hg38UCSC Ensembl
Innerchr21:47409503..47488387hg19UCSC Ensembl
Innerchr21:46233931..46312815hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3878885
hg1978885
hg1878885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949284
Samples
Known GenesCOL6A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587935
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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