A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474122



Internal ID251790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125415762..125418874hg38UCSC Ensembl
chr8:126428004..126431116hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383113
hg193113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015396
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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