A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209722



Internal ID22357752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50342875..50346660hg38UCSC Ensembl
chr22:50781304..50785089hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383786
hg193786
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410196, nssv14410197
SamplesNA19240
Known GenesPPP6R2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209722
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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