A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4079112



Internal ID20321617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58340454..58360997hg38UCSC Ensembl
chr3:58326181..58346724hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3820544
hg1920544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972494
Samples
Known GenesPXK
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)nsv4079112
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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