A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4113668



Internal ID20347138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178363618..178365471hg38UCSC Ensembl
chr5:177790619..177792472hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381854
hg191854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15906326
Samples
Known GenesCOL23A1
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)nsv4113668
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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