A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15986533



Internal ID19711787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111310042..111650846hg38UCSC Ensembl
chr9:114072322..114413126hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38340805
hg19340805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4183371
Supporting Variants
Samples
Known GenesDNAJC25, DNAJC25-GNG10, KIAA0368, LRRC37A5P, OR2K2, PTGR1, ZNF483
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)nssv15986533
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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