A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105058



Internal ID19994129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194427521..194427986hg38UCSC Ensembl
chr3:194148250..194148715hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970766
Samples
Known GenesATP13A3
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)nsv4105058
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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