A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196764



Internal ID22346722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90148078..90239585hg38UCSC Ensembl
Outerchr5:89443895..89535402hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3891508
hg1991508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274694
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196764
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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