A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212747



Internal ID22359906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:47726507..47744881hg38UCSC Ensembl
Outerchr13:48300642..48319016hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3818375
hg1918375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256939
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212747
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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