A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474840



Internal ID252490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123157253..123157443hg38UCSC Ensembl
chr8:124169493..124169683hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018524
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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