A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963051



Internal ID20034992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13826600..13835482hg38UCSC Ensembl
chr19:13937414..13946296hg19UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg388883
hg198883
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4258130
Supporting Variants
Samples
Known GenesLOC284454, ZSWIM4
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)nssv15963051
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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