A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2189n152



Internal ID22817892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27060305..27066359hg38UCSC Ensembl
chr13:27634442..27640496hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg386055
hg196055
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3233102, nsv3232251
SamplesNA19238, HG00731, NA19240, HG00733
Known GenesUSP12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2189n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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