A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583187



Internal ID16370596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139955786..140021119hg38UCSC Ensembl
Innerchr2:140713355..140778688hg19UCSC Ensembl
Innerchr2:140429825..140495158hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3865334
hg1965334
hg1865334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920111
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583187
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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