A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505423



Internal ID282198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114141020..114353020hg38UCSC Ensembl
chr13:114906495..115109878hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38212001
hg19203384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695662
Samples
Known GenesCDC16, CHAMP1, UPF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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