A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482794



Internal ID260241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:82710325..82714448hg38UCSC Ensembl
chr8:83622560..83626683hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384124
hg194124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014021
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482794
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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