A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248836



Internal ID22377107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24848111..24892299hg38UCSC Ensembl
Outerchr16:24859432..24903620hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259207, nssv14259211, nssv14259210, nssv14259206, nssv14259205, nssv14259209, nssv14259213, nssv14259208, nssv14259212
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC5A11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248836
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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