A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221444



Internal ID22365832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30408282..30419970hg38UCSC Ensembl
Outerchr13:30982419..30994107hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3811689
hg1911689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256882, nssv14256881
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221444
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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