A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697721



Internal ID15434373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69673603..69674126hg38UCSC Ensembl
Innerchr18:67340839..67341362hg19UCSC Ensembl
Innerchr18:65491819..65492342hg18UCSC Ensembl
Innerchr18:65491819..65492342hg17UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38524
hg19524
hg18524
hg17524
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520983
Supporting Variants
Samples
Known GenesDOK6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697721
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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