A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705931



Internal ID15442583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38925109..38941539hg38UCSC Ensembl
Innerchr8:38782627..38799057hg19UCSC Ensembl
Innerchr8:38901784..38918214hg18UCSC Ensembl
Innerchr8:38901784..38918214hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3816431
hg1916431
hg1816431
hg1716431
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522550
Supporting Variants
Samples
Known GenesPLEKHA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705931
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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