A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483143



Internal ID260586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29868569..29868721hg38UCSC Ensembl
chr8:29726085..29726237hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009261
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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