A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249441



Internal ID22377273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:67597727..67618189hg38UCSC Ensembl
Outerchr13:68171859..68192321hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256752, nssv14256758, nssv14256754, nssv14256756, nssv14256753, nssv14256755, nssv14256759, nssv14256757
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249441
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