A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271814



Internal ID20112670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49337146..49662981hg38UCSC Ensembl
chr18:46863516..47189351hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38325836
hg19325836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960687
Samples
Known GenesC18orf32, DYM, LIPG, MIR1539, RPL17, RPL17-C18orf32, SNORD58A, SNORD58B, SNORD58C
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)nsv4271814
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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