A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15838459



Internal ID19910545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9362060..9363540hg38UCSC Ensembl
chr18:9362058..9363538hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381481
hg191481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4262303
Supporting Variants
Samples
Known GenesTWSG1
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)nssv15838459
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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