A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4189193



Internal ID20054641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113277622..113445488hg38UCSC Ensembl
chr9:116039902..116207768hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38167867
hg19167867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987299
Samples
Known GenesALAD, BSPRY, C9orf43, HDHD3, POLE3, PRPF4, RGS3, RNF183, WDR31
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)nsv4189193
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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