A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681265



Internal ID15417917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132703440..132720455hg38UCSC Ensembl
Innerchr5:132039132..132056147hg19UCSC Ensembl
Innerchr5:132067031..132084046hg18UCSC Ensembl
Innerchr5:132067031..132084046hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3817016
hg1917016
hg1817016
hg1717016
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)nssv681265
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer