A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717918



Internal ID141584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46773426..46773472hg38UCSC Ensembl
chr18:44353389..44353435hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548085
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717918
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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