A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205901



Internal ID22354522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50678804..50684835hg38UCSC Ensembl
chr22:51117232..51123263hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg386032
hg196032
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5824n152
Supporting Variantsnssv14409838
SamplesNA19240
Known GenesSHANK3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205901
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