A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7789n152



Internal ID22823492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26342543..26353604hg38UCSC Ensembl
chr6:26342771..26353832hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3811062
hg1911062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3289088, nsv3193526, nsv3210321
SamplesNA19239, NA19240
Known Genes
MethodMerging
Optical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
Illumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7789n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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