A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196389



Internal ID22346406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128440471..128449824hg38UCSC Ensembl
Outerchr5:127776164..127785517hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg389354
hg199354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272673
SamplesNA19238
Known GenesFBN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196389
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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