A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486049



Internal ID263424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104840548..104870115hg38UCSC Ensembl
chr8:105852776..105882343hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3829568
hg1929568
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015706
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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