A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458521



Internal ID22252381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50396569..50398974hg38UCSC Ensembl
chr22:50834998..50837403hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382406
hg192406
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194406
Supporting Variants
SamplesHG00733
Known GenesPPP6R2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14458521
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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