A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719062



Internal ID142728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67463628..67593952hg38UCSC Ensembl
chr18:65130865..65261189hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38130325
hg19130325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528021
Supporting Variants
Samples
Known GenesDSEL, LOC643542
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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