A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526248



Internal ID302386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62249692..62251526hg38UCSC Ensembl
chr20:60824748..60826582hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381835
hg191835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733558
Samples
Known GenesOSBPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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