A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689546



Internal ID15426198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132703440..132730188hg38UCSC Ensembl
Innerchr5:132039132..132065880hg19UCSC Ensembl
Innerchr5:132067031..132093779hg18UCSC Ensembl
Innerchr5:132067031..132093779hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3826749
hg1926749
hg1826749
hg1726749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521072
Supporting Variants
Samples
Known GenesKIF3A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689546
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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