A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482161



Internal ID259619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79982170..79982462hg38UCSC Ensembl
chr8:80894405..80894697hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013315
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482161
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