A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498522



Internal ID275512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68872632..68875798hg38UCSC Ensembl
chr13:69446764..69449930hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg383167
hg193167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691764
Samples
Known GenesLINC00550
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498522
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