A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247205



Internal ID22376645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:347010..379735hg38UCSC Ensembl
Outerchr11:347010..379735hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384036
hg194036
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253980, nssv14253984, nssv14253981, nssv14253982, nssv14253983
SamplesNA19239, HG00731, HG00732, HG00733, HG00514
Known GenesB4GALNT4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247205
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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