A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406116



Internal ID22463986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42798273..42798453hg38UCSC Ensembl
chr22:43194279..43194459hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952717
Supporting Variants
Samples
Known GenesARFGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406116
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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