A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243066



Internal ID22375462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88083288..88091120hg38UCSC Ensembl
Outerchr16:88116894..88124726hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259995
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243066
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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