A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687249



Internal ID110915
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 StatusS
Merged Variantsnsv5501920
Supporting Variants
Samples
Known GenesDNAJC15, EPSTI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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