A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523212



Internal ID15103819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50301663..50762209hg38UCSC Ensembl
Innerchr5:49597497..50058043hg19UCSC Ensembl
Innerchr5:49633254..50093800hg18UCSC Ensembl
Innerchr5:49633254..50093800hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38460547
hg19460547
hg18460547
hg17460547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698933
Samples
Known GenesEMB, PARP8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523212
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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