A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699485



Internal ID15436137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6421990..6439029hg38UCSC Ensembl
Innerchr8:6279511..6296550hg19UCSC Ensembl
Innerchr8:6266919..6283958hg18UCSC Ensembl
Innerchr8:6266919..6283958hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3817040
hg1917040
hg1817040
hg1717040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523681
Supporting Variants
Samples
Known GenesMCPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699485
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