A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480510



Internal ID258017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41564925..41573205hg38UCSC Ensembl
chr8:41422444..41430724hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg388281
hg198281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009721
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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