A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5229n152



Internal ID22820932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:30600062..30656608hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3856547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3542242, nsv3213377
SamplesNA19238
Known Genes
MethodOptical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PlatformBioNano Genomics
Illumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5229n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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