A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4252189



Internal ID20445633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:77368676..77656230hg38UCSC Ensembl
chr16:77402573..77690127hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38287555
hg19287555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955652
Samples
Known GenesADAMTS18
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)nsv4252189
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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