A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239016



Internal ID22369180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4093435..4136402hg38UCSC Ensembl
Outerchr20:4074082..4117049hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381614
hg191614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266436
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239016
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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