A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240511



Internal ID22374719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:82154547..82162369hg38UCSC Ensembl
Outerchr11:81865589..81873411hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381044
hg191044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254309, nssv14254307, nssv14254304, nssv14254305, nssv14254306, nssv14254310, nssv14254308
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240511
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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