A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482832



Internal ID260278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48352110..48352242hg38UCSC Ensembl
chr8:49264670..49264802hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010879
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482832
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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