A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4079082



Internal ID20321597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:109424902..109455806hg38UCSC Ensembl
chr3:109143749..109174653hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3830905
hg1930905
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973267
Samples
Known GenesFLJ25363
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)nsv4079082
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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