A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693477



Internal ID15083443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157786489..157808364hg38UCSC Ensembl
Innerchr5:157213497..157235372hg19UCSC Ensembl
Innerchr5:157146075..157167950hg18UCSC Ensembl
Innerchr5:157146075..157167950hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3821876
hg1921876
hg1821876
hg1721876
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521000
Supporting Variants
Samples
Known GenesCLINT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693477
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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