A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687252



Internal ID110918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42914564..43294288hg38UCSC Ensembl
chr13:43488700..43868424hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38379725
hg19379725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511928
Supporting Variants
Samples
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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