A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453618



Internal ID231734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138130649..138217748hg38UCSC Ensembl
chr3:137849491..137936590hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3887100
hg1987100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940000
Samples
Known GenesA4GNT, ARMC8, DBR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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