A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904050



Internal ID22679223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141264031..141264109hg38UCSC Ensembl
chr3:140982873..140982951hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398194
Samples
Known GenesACPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904050
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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