A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv414n152



Internal ID22816117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149475051..149556941hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3881891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3218589, nsv3221314
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv414n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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