A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583240



Internal ID16370649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142214630..142240996hg38UCSC Ensembl
Innerchr2:142972199..142998565hg19UCSC Ensembl
Innerchr2:142688669..142715035hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3826367
hg1926367
hg1826367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151322
SamplesHGDP00129
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583240
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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