A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1621n166



Internal ID22801520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18614359..18615931hg38UCSC Ensembl
chr3:18655851..18657423hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381573
hg191573
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4573476, nsv4337814
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)dgv1621n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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