A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235458



Internal ID22373296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:65876730..65879637hg38UCSC Ensembl
Outerchr16:65910633..65913540hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg384089
hg194089
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260707, nssv14260706
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235458
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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