A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477875



Internal ID255441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99109013..99141764hg38UCSC Ensembl
chr8:100121241..100153992hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3832752
hg1932752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016157
Samples
Known GenesVPS13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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