A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474630



Internal ID252286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99052222..99084222hg38UCSC Ensembl
chr8:100064450..100096450hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016147
Samples
Known GenesVPS13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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