A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246119



Internal ID22376333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63880825..63904634hg38UCSC Ensembl
Outerchr11:63648297..63672106hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1420n152
Supporting Variantsnssv14254511, nssv14254512
SamplesNA19238, HG00513
Known GenesMARK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246119
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