A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483260



Internal ID260701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105905274..105905377hg38UCSC Ensembl
chr8:106917502..106917605hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015852
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483260
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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