A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717373



Internal ID141039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36535172..36872733hg38UCSC Ensembl
chr18:34115135..34452696hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38337562
hg19337562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531688
Supporting Variants
Samples
Known GenesFHOD3, KIAA1328, TPGS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717373
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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