A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487312



Internal ID264653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113915894..113946603hg38UCSC Ensembl
chr8:114928123..114958832hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3830710
hg1930710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015919
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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