A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520390



Internal ID15447683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3415240..3431897hg38UCSC Ensembl
Innerchr2:3419011..3435668hg19UCSC Ensembl
Innerchr2:3398018..3414675hg18UCSC Ensembl
Innerchr2:4957294..4973951hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3816658
hg1916658
hg1816658
hg1716658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663545, nssv683084, nssv679759
Samples
Known GenesTRAPPC12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520390
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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