A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15935720



Internal ID20007660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:20958194..20972585hg38UCSC Ensembl
chr9:20958193..20972584hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3814392
hg1914392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4188754
Supporting Variants
Samples
Known GenesFOCAD
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)nssv15935720
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00106


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