A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9192n152



Internal ID22824895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59728500..59789452hg38UCSC Ensembl
chr8:60641059..60702011hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3860953
hg1960953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213623, nsv3219454, nsv3228542, nsv3284182
SamplesNA19238, HG00513, HG00514
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)dgv9192n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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