A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191758



Internal ID22342423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:89300398..89313807hg38UCSC Ensembl
Outerchr5:88596215..88609624hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3813410
hg1913410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273310, nssv14273309
SamplesNA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191758
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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