A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15780743



Internal ID19852726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58597633..58607533hg38UCSC Ensembl
chr19:59109000..59118900hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg389901
hg199901
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4048955
Supporting Variants
Samples
Known Genes
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)nssv15780743
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.010879


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