A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536275



Internal ID311778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:25376768..25376781hg38UCSC Ensembl
chr15:25621915..25621928hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700021
Samples
Known GenesUBE3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536275
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