A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697765



Internal ID121431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67982730..67982730hg38UCSC Ensembl
chr14:68449447..68449447hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421704
Supporting Variants
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.032643


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