A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495536



Internal ID272645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68372676..68374632hg38UCSC Ensembl
chr14:68839393..68841349hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381957
hg191957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697788
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495536
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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