A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478236



Internal ID255799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79953640..79958193hg38UCSC Ensembl
chr8:80865875..80870428hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384554
hg194554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013312
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478236
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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