A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717899



Internal ID141565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46371684..46374395hg38UCSC Ensembl
chr18:43951647..43954358hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382712
hg192712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514223
Supporting Variants
Samples
Known GenesRNF165
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717899
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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