A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246283



Internal ID22376368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59277656..59284048hg38UCSC Ensembl
Outerchr11:59045129..59051521hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253958, nssv14253959, nssv14253957, nssv14253956, nssv14253962, nssv14253960, nssv14253961, nssv14253955, nssv14253954
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246283
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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