A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447484



Internal ID225787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184327674..184327748hg38UCSC Ensembl
chr3:184045462..184045536hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943336
Samples
Known GenesEIF4G1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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