A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956493



Internal ID20028433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:45026602..45034027hg38UCSC Ensembl
chr15:45318800..45326225hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg387426
hg197426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4233237
Supporting Variants
Samples
Known GenesSORD
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)nssv15956493
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.392482


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