A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719167



Internal ID142833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69215066..69215117hg38UCSC Ensembl
chr18:66882303..66882354hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433055
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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