A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474326



Internal ID251986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79968211..79989588hg38UCSC Ensembl
chr8:80880446..80901823hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3821378
hg1921378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013314
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474326
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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