A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519831



Internal ID15100438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47845716..48338892hg38UCSC Ensembl
Innerchr2:48072855..48566031hg19UCSC Ensembl
Innerchr2:47926359..48419535hg18UCSC Ensembl
Innerchr2:47984506..48477682hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38493177
hg19493177
hg18493177
hg17493177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697074
Samples
Known GenesFBXO11, FOXN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519831
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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