A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804757



Internal ID19530157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126285953..126414692hg38UCSC Ensembl
chr11:126155848..126284587hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38128740
hg19128740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4202303
Supporting Variants
Samples
Known GenesDCPS, ST3GAL4, ST3GAL4-AS1, TIRAP
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)nssv15804757
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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