A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238227



Internal ID22374101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36504261..36516555hg38UCSC Ensembl
Outerchr11:36525811..36538105hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253677, nssv14253678
SamplesNA19238, HG00732
Known GenesTRAF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238227
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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