A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15935789



Internal ID20007729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34598462..34640256hg38UCSC Ensembl
chr9:34598460..34640253hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3841795
hg1941794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4173877
Supporting Variants
Samples
Known GenesARID3C, DCTN3, RPP25L, SIGMAR1
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)nssv15935789
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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