A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243019



Internal ID22375445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:47778552..47779718hg38UCSC Ensembl
Outerchr16:47812463..47813629hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg389832
hg199832
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260704, nssv14260703
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243019
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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