A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442753



Internal ID221170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184290396..184321664hg38UCSC Ensembl
chr3:184008184..184039452hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3831269
hg1931269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943335
Samples
Known GenesECE2, EIF4G1, PSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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