A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947303



Internal ID19672557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55023524..55598524hg38UCSC Ensembl
chr11:54791000..55366000hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38575001
hg19575001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4212277
Supporting Variants
Samples
Known GenesOR4A15, OR4A16, OR4C15, OR4C16, TRIM48, TRIM51HP
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)nssv15947303
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000462


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