A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245211



Internal ID22376086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46958344..46985268hg38UCSC Ensembl
Outerchr12:47352127..47379051hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381384
hg191384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255856, nssv14255855, nssv14255854, nssv14255853
SamplesNA19238, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245211
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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