A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202040



Internal ID22351254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50396738..50398974hg38UCSC Ensembl
chr22:50835167..50837403hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382237
hg192237
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5819n152
Supporting Variantsnssv14434557
SamplesHG00514
Known GenesPPP6R2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202040
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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