A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697922



Internal ID15434574
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521316
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697922
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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