A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239854



Internal ID22374551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87078328..87083775hg38UCSC Ensembl
Outerchr16:87111934..87117381hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260727, nssv14260726
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239854
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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