A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196994



Internal ID22346921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35735298..35741221hg38UCSC Ensembl
chr22:36131345..36137268hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385924
hg195924
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5722n152
Supporting Variantsnssv14395721
SamplesNA19240
Known GenesRBFOX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196994
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