A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700021



Internal ID123687
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 StatusS
Merged Variantsnsv5536275
Supporting Variants
Samples
Known GenesUBE3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700021
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.304246


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