A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7688n152



Internal ID22823391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181272960..181288658hg38UCSC Ensembl
chr5:180699961..180715659hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3815699
hg1915699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202216, nsv3202618
SamplesNA19239
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)dgv7688n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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