A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687410



Internal ID111076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45413787..45431604hg38UCSC Ensembl
chr13:45987922..46005739hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3817818
hg1917818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499951
Supporting Variants
Samples
Known GenesSLC25A30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687410
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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