A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719994



Internal ID143660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80137758..80219156hg38UCSC Ensembl
chr18:77895641..77977039hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3881399
hg1981399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529535
Supporting Variants
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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