A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230238



Internal ID22371821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44833236..44854643hg38UCSC Ensembl
Outerchr13:45407372..45428779hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3821408
hg1921408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256958
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230238
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