A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450467



Internal ID228673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133480395..133495864hg38UCSC Ensembl
chr3:133199239..133214708hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3815470
hg1915470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937767
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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