A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582198



Internal ID16369607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71488535..71529515hg38UCSC Ensembl
Innerchr2:71715665..71756645hg19UCSC Ensembl
Innerchr2:71569173..71610153hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3840981
hg1940981
hg1840981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv912173
Samples
Known GenesDYSF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582198
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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