A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957431



Internal ID20029371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48228918..48324308hg38UCSC Ensembl
chr15:48521115..48616505hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3895391
hg1995391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4237088
Supporting Variants
Samples
Known GenesSLC12A1
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)nssv15957431
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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