A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv894n166



Internal ID22800793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47897092..47909308hg38UCSC Ensembl
chr16:47931003..47943219hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3812217
hg1912217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4246579, nsv4248688
Samples
Known Genes
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)dgv894n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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