A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4120n152



Internal ID22819823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8166072..8181350hg38UCSC Ensembl
chr19:8230956..8246234hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3815279
hg1915279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211113, nsv3221944
SamplesHG00512, NA19239, NA19240, HG00513, HG00514
Known Genes
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)dgv4120n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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