A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691244



Internal ID114910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69178438..69178489hg38UCSC Ensembl
chr13:69752570..69752621hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429984
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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