A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483181



Internal ID260623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23063245..23066854hg38UCSC Ensembl
chr8:22920758..22924367hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383610
hg193610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010310
Samples
Known GenesTNFRSF10B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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