A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583181



Internal ID16370590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137712774..137780063hg38UCSC Ensembl
Innerchr2:138470344..138537633hg19UCSC Ensembl
Innerchr2:138186814..138254103hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3867290
hg1967290
hg1867290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920105
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583181
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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