A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719993



Internal ID143659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80129151..80195471hg38UCSC Ensembl
chr18:77887034..77953354hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3866321
hg1966321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529865
Supporting Variants
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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