A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248137



Internal ID22342993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:70329675..70384404hg38UCSC Ensembl
Outerchr13:70903807..70958536hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256770, nssv14256771, nssv14256769
SamplesNA19238, NA19239, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248137
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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