A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2406n152



Internal ID22818109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101228957..101252525hg38UCSC Ensembl
chr13:101881308..101904876hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3823569
hg1923569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221111, nsv3221533
SamplesHG00731, NA19240, HG00733, HG00513
Known GenesNALCN
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2406n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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