A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1745n166



Internal ID22801644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195864690..195865641hg38UCSC Ensembl
chr3:195591561..195592512hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38952
hg19952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4110395, nsv4110241
Samples
Known GenesTNK2
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)dgv1745n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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