A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492923



Internal ID270119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83562838..83562988hg38UCSC Ensembl
chr8:84475073..84475223hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014098
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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