A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5680n152



Internal ID22821383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20335627..20364333hg38UCSC Ensembl
chr22:20323150..20718623hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3828707
hg19395474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219303, nsv3213816
SamplesNA19239, NA19240
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5680n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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