A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7599n152



Internal ID22823302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166391611..166427389hg38UCSC Ensembl
chr5:165818616..165854394hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3835779
hg1935779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3207784, nsv3209677
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7599n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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