A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524374



Internal ID15451667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46838986..46839143hg38UCSC Ensembl
Innerchr2:47066125..47066282hg19UCSC Ensembl
Innerchr2:46919629..46919786hg18UCSC Ensembl
Innerchr2:46977776..46977933hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
hg17158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700286
Samples
Known GenesLINC01119
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524374
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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