A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016147



Internal ID78414
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 StatusS
Merged Variantsnsv5474630
Supporting Variants
Samples
Known GenesVPS13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016147
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer