A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694123



Internal ID15430775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47457010..47464600hg38UCSC Ensembl
Innerchr18:44983381..44990971hg19UCSC Ensembl
Innerchr18:43237379..43244969hg18UCSC Ensembl
Innerchr18:43237379..43244969hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387591
hg197591
hg187591
hg177591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517425
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694123
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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