A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587944



Internal ID16375353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46116632..46129699hg38UCSC Ensembl
Innerchr21:47536546..47549613hg19UCSC Ensembl
Innerchr21:46360974..46374041hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813068
hg1913068
hg1813068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151244
SamplesHGDP00512
Known GenesCOL6A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587944
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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