A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400619



Internal ID22458489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133384323..133384381hg38UCSC Ensembl
chr3:133103167..133103225hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899726
Supporting Variants
Samples
Known GenesTMEM108
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400619
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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