A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4089295



Internal ID20329050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126534567..126535567hg38UCSC Ensembl
chr3:126253410..126254410hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1694n166
Supporting Variantsnssv15972216
Samples
Known GenesCHST13
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)nsv4089295
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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