A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15986186



Internal ID20058127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34197964..34392077hg38UCSC Ensembl
chr9:34197962..34392075hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38194114
hg19194114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4188495
Supporting Variants
Samples
Known GenesC9orf24, KIAA1161, KIF24, NUDT2, UBAP1
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)nssv15986186
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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