A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717889



Internal ID141555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46194709..46198832hg38UCSC Ensembl
chr18:43774675..43778798hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384124
hg194124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529460
Supporting Variants
Samples
Known GenesC18orf25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717889
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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