A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420349



Internal ID22478219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64547483..64549935hg38UCSC Ensembl
chr3:64533159..64535611hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901595
Supporting Variants
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420349
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02


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