A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982406



Internal ID20054346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14619149..14619150hg38UCSC Ensembl
chr11:14640695..14640696hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381609
hg191609
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4572083
Supporting Variants
Samples
Known GenesPSMA1
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)nssv15982406
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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