A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450858



Internal ID229053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100337655..100347383hg38UCSC Ensembl
chr3:100056499..100066227hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg389729
hg199729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937089
Samples
Known GenesNIT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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