A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191109



Internal ID22341863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115387657..115466655hg38UCSC Ensembl
Outerchr5:114723354..114802352hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3878999
hg1978999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7489n152
Supporting Variantsnssv14274697, nssv14273314
SamplesNA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191109
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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