A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687113



Internal ID110779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40808646..40808820hg38UCSC Ensembl
chr13:41382782..41382956hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509764
Supporting Variants
Samples
Known GenesSLC25A15, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687113
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017484


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