A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697019



Internal ID15086985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31127452..31141571hg38UCSC Ensembl
Innerchr18:28707415..28721534hg19UCSC Ensembl
Innerchr18:26961413..26975532hg18UCSC Ensembl
Innerchr18:26961413..26975532hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3814120
hg1914120
hg1814120
hg1714120
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519734
Supporting Variants
Samples
Known GenesDSC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697019
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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