A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245349



Internal ID22376126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81757155..81767012hg38UCSC Ensembl
Outerchr16:81790760..81800617hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260409, nssv14260406, nssv14260407, nssv14260408
SamplesHG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245349
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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