A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694814



Internal ID15084780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179796951..179797037hg38UCSC Ensembl
Innerchr1:179766086..179766172hg19UCSC Ensembl
Innerchr1:178032709..178032795hg18UCSC Ensembl
Innerchr1:176497743..176497829hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
hg1787
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522044
Supporting Variants
Samples
Known GenesFAM163A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694814
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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