A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498031



Internal ID275042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108347563..108353379hg38UCSC Ensembl
chr13:108999911..109005727hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg385817
hg195817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692427
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498031
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