A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440833



Internal ID219331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141264031..141264110hg38UCSC Ensembl
chr3:140982873..140982952hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940347
Samples
Known GenesACPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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