A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247529



Internal ID22376743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43970800..43975568hg38UCSC Ensembl
Outerchr13:44544936..44549704hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257402
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247529
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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