A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1105n166



Internal ID22801004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2084027..2091669hg38UCSC Ensembl
chr19:2084026..2091668hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387643
hg197643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4262697, nsv4270713
Samples
Known GenesMOB3A
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)dgv1105n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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