A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397268



Internal ID22455138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141272528..141272703hg38UCSC Ensembl
chr3:140991370..140991545hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900616
Supporting Variants
Samples
Known GenesACPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397268
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.032


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