A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493194



Internal ID270383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104204435..104204516hg38UCSC Ensembl
chr8:105216663..105216744hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015669
Samples
Known GenesRIMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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