A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700446



Internal ID15090412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144270310..144285362hg38UCSC Ensembl
Innerchr8:145494298..145509128hg19UCSC Ensembl
Innerchr8:145465106..145479936hg18UCSC Ensembl
Innerchr8:145465106..145479936hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3815053
hg1914831
hg1814831
hg1714831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515809
Supporting Variants
Samples
Known GenesBOP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700446
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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