A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240518



Internal ID22374721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113248298..113274512hg38UCSC Ensembl
Outerchr13:113902612..113928827hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257467, nssv14257469, nssv14257463, nssv14257465, nssv14257464, nssv14257468, nssv14257466, nssv14257462
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesCUL4A, MIR8075
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240518
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