A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447728



Internal ID226021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191302334..191460338hg38UCSC Ensembl
chr3:191020123..191178127hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38158005
hg19158005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944925
Samples
Known GenesCCDC50, UTS2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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