A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520349



Internal ID15100956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123023945..123120326hg38UCSC Ensembl
Innerchr5:122359640..122456021hg19UCSC Ensembl
Innerchr5:122387539..122483920hg18UCSC Ensembl
Innerchr5:122387539..122483920hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3896382
hg1996382
hg1896382
hg1796382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697362
Samples
Known GenesPPIC, PRDM6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520349
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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