A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15986087



Internal ID19711341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40173682..40231707hg38UCSC Ensembl
chr9:42318700..42376725hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3858026
hg1958026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4190166
Supporting Variants
Samples
Known GenesANKRD20A2, ANKRD20A3
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)nssv15986087
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017408


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