A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216332



Internal ID22362357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:50232147..50261467hg38UCSC Ensembl
Outerchr5:49527981..49557301hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg382171
hg192171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275930
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216332
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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