A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410197



Internal ID22295032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50342875..50346660hg38UCSC Ensembl
chr22:50781304..50785089hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383786
hg193786
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209722
Supporting Variants
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)nssv14410197
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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