A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv918n166



Internal ID20166346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81124816..81259353hg38UCSC Ensembl
chr16:81158421..81292958hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38134538
hg19134538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4235410, nsv4241534
Samples
Known GenesBCMO1, PKD1L2
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 ID12345678
Accession Number(s)dgv918n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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