A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672760



Internal ID15409412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80449247..80457125hg38UCSC Ensembl
Innerchr14:80915590..80923468hg19UCSC Ensembl
Innerchr14:79985343..79993221hg18UCSC Ensembl
Innerchr14:79985343..79993221hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg387879
hg197879
hg187879
hg177879
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520394
Supporting Variants
Samples
Known GenesDIO2-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672760
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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