A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4083385



Internal ID20324748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54797617..54852514hg38UCSC Ensembl
chr3:54831644..54886541hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3854898
hg1954898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972456
Samples
Known GenesCACNA2D3
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)nsv4083385
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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