A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582192



Internal ID16022915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70752058..70797428hg38UCSC Ensembl
Innerchr2:70979190..71024560hg19UCSC Ensembl
Innerchr2:70832698..70878068hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3845371
hg1945371
hg1845371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv912168
Samples
Known GenesADD2, FIGLA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582192
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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