A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521316



Internal ID15448609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:125775670..125798670hg38UCSC Ensembl
Innerchr5:125111363..125134363hg19UCSC Ensembl
Innerchr5:125139262..125162262hg18UCSC Ensembl
Innerchr5:125139262..125162262hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3823001
hg1923001
hg1823001
hg1723001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697922
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521316
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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