A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947418



Internal ID19672672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67069614..67069980hg38UCSC Ensembl
chr11:66837085..66837451hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4198062
Supporting Variants
Samples
Known GenesRHOD
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)nssv15947418
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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