A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236242



Internal ID22333143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:16247290..16267971hg38UCSC Ensembl
Outerchr20:16227935..16248616hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381113
hg191113
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265853, nssv14265850, nssv14265854, nssv14265852, nssv14265851, nssv14265849
SamplesHG00512, NA19238, NA19239, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236242
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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