A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173877



Internal ID20390445
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 StatusM
Merged Variants
Supporting Variantsnssv15935789
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)nsv4173877
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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