A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703350



Internal ID15440002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17723282..17724895hg38UCSC Ensembl
Innerchr8:17580791..17582404hg19UCSC Ensembl
Innerchr8:17625071..17626684hg18UCSC Ensembl
Innerchr8:17625071..17626684hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381614
hg191614
hg181614
hg171614
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526978
Supporting Variants
Samples
Known GenesMTUS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703350
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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