A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501532



Internal ID278428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48040377..48042940hg38UCSC Ensembl
chr13:48614513..48617076hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382564
hg192564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687572
Samples
Known GenesNUDT15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501532
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer