A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv319n166



Internal ID22800218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1754426..1754625hg38UCSC Ensembl
chr11:1775656..1775855hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4196572, nsv4193910
Samples
Known GenesCTSD, MOB2
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)dgv319n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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