A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949473



Internal ID19674727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117986195..118046595hg38UCSC Ensembl
chr12:118424000..118484400hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3860401
hg1960401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4219619
Supporting Variants
Samples
Known GenesRFC5, WSB2
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)nssv15949473
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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