A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929370



Internal ID22704622
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 StatusM
Merged Variants
Supporting Variantsnssv17383230
Samples
Known GenesUCHL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929370
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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