A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501920



Internal ID278805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42897777..43168501hg38UCSC Ensembl
chr13:43471913..43742637hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38270725
hg19270725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687249
Samples
Known GenesDNAJC15, EPSTI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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