A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499951



Internal ID276903
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 StatusM
Merged Variants
Supporting Variantsnssv17687410
Samples
Known GenesSLC25A30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499951
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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