A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5281n152



Internal ID22820984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44641875..44722268hg38UCSC Ensembl
chr20:43270516..43350909hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3880394
hg1980394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216916, nsv3226799
SamplesNA19239, NA19240
Known GenesADA, LOC79015, WISP2
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)dgv5281n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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