A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4090420



Internal ID19983205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38712131..38761031hg38UCSC Ensembl
chr3:38753622..38802522hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3848901
hg1948901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971580
Samples
Known GenesSCN10A
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 ID12345678
Accession Number(s)nsv4090420
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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