A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1818n166



Internal ID22801717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:58786111..59400371hg38UCSC Ensembl
chr4:59652276..60266089hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38614261
hg19613814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4093611, nsv4520742
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)dgv1818n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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