A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581742



Internal ID16022465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45794467..45825358hg38UCSC Ensembl
Innerchr2:46021606..46052497hg19UCSC Ensembl
Innerchr2:45875110..45906001hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3830892
hg1930892
hg1830892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150438
SamplesHGDP00756
Known GenesPRKCE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581742
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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