A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7282n152



Internal ID22822985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34302758..34383550hg38UCSC Ensembl
chr5:34302863..34383655hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3880793
hg1980793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198623, nsv3191102
SamplesNA19240
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)dgv7282n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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