A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234585



Internal ID22373075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121324843..121330488hg38UCSC Ensembl
Outerchr11:121195552..121201197hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254174, nssv14254171, nssv14254173, nssv14254170, nssv14254169, nssv14254176, nssv14254175, nssv14254172
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234585
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer