A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv843n166



Internal ID22800742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3260423..3266388hg38UCSC Ensembl
chr16:3310423..3316388hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385966
hg195966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4241073, nsv4248373, nsv4233203
Samples
Known GenesLINC00921
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)dgv843n166
Frequency
Sample Size10847
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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