A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5391n152



Internal ID22821094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64018827..64042348hg38UCSC Ensembl
chr20:62650180..62673701hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3823522
hg1923522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223956, nsv3219034
SamplesHG00514
Known GenesLINC00176, PRPF6
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)dgv5391n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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