A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975347



Internal ID20047287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177506161..177506884hg38UCSC Ensembl
chr5:176933162..176933885hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522658
Supporting Variants
Samples
Known GenesDOK3
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)nssv15975347
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000465


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