A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697775



Internal ID121441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68195666..68195816hg38UCSC Ensembl
chr14:68662383..68662533hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509097
Supporting Variants
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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