A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534267



Internal ID310088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30703641..30710752hg38UCSC Ensembl
chr22:31099628..31106739hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg387112
hg197112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728438
Samples
Known GenesOSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534267
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