A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223422



Internal ID22367197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40481145..40543494hg38UCSC Ensembl
Outerchr22:40877149..40939498hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3862350
hg1962350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269374
SamplesHG00513
Known GenesMKL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223422
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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