A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697034



Internal ID15087000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22404116..22528966hg38UCSC Ensembl
Innerchr8:22261629..22386479hg19UCSC Ensembl
Innerchr8:22317574..22442424hg18UCSC Ensembl
Innerchr8:22317574..22442424hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38124851
hg19124851
hg18124851
hg17124851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519758
Supporting Variants
Samples
Known GenesPPP3CC, SLC39A14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697034
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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