A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383230



Internal ID22441100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75581245..75582085hg38UCSC Ensembl
chr13:76155381..76156221hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929370
Supporting Variants
Samples
Known GenesUCHL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383230
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008


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