A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697790



Internal ID121456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68391236..68395112hg38UCSC Ensembl
chr14:68857953..68861829hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg383877
hg193877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494509
Supporting Variants
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697790
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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