A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957433



Internal ID19682687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48308890..48436813hg38UCSC Ensembl
chr15:48601087..48729010hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38127924
hg19127924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4238707
Supporting Variants
Samples
Known GenesDUT, FBN1
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)nssv15957433
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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