A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1712n166



Internal ID22801611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:158503272..158521247hg38UCSC Ensembl
chr3:158221061..158239036hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg3817976
hg1917976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4093777, nsv4093442
Samples
Known GenesRSRC1
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)dgv1712n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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