A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483763



Internal ID261191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84612500..84619265hg38UCSC Ensembl
chr8:85524735..85531500hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg386766
hg196766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013834
Samples
Known GenesRALYL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483763
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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