A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518038



Internal ID15098645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10726169..11238510hg38UCSC Ensembl
Innerchr5:10726281..11238622hg19UCSC Ensembl
Innerchr5:10779281..11291622hg18UCSC Ensembl
Innerchr5:10779281..11291622hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38512342
hg19512342
hg18512342
hg17512342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695449
Samples
Known GenesCTNND2, DAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518038
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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