A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229479



Internal ID22367886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:106560363..106602545hg38UCSC Ensembl
Outerchr5:105896064..105938246hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg382537
hg192537
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276795
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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