A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509692



Internal ID286340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68160240..68161587hg38UCSC Ensembl
chr14:68626957..68628304hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697774
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509692
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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