A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv113n166



Internal ID20165541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109224828..109227735hg38UCSC Ensembl
chr1:109767450..109770357hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382908
hg192908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4058373, nsv4069944
Samples
Known GenesSARS
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 ID12345678
Accession Number(s)dgv113n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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