A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223682



Internal ID22367373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158308825..158313597hg38UCSC Ensembl
Outerchr5:157735833..157740605hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276924, nssv14276923
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223682
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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