A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957424



Internal ID20029364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47405997..47406408hg38UCSC Ensembl
chr15:47698194..47698605hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4242454
Supporting Variants
Samples
Known GenesSEMA6D
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)nssv15957424
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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