A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960651



Internal ID20032591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46082113..46108841hg38UCSC Ensembl
chr18:43662079..43688807hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3826729
hg1926729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4265992
Supporting Variants
Samples
Known GenesATP5A1, HAUS1
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)nssv15960651
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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