A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9193n152



Internal ID22824896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60083368..60097578hg38UCSC Ensembl
chr8:60995927..61010137hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3814211
hg1914211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3220553, nsv3211993
SamplesNA19238, NA19240
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)dgv9193n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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