A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1976n166



Internal ID22801875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:20995671..20999804hg38UCSC Ensembl
chr5:20995780..20999913hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg384134
hg194134
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4561501, nsv4564989
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)dgv1976n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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