A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153945



Internal ID20375944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17530734..17861593hg38UCSC Ensembl
chr8:17388243..17719102hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38330860
hg19330860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983486
Samples
Known GenesMTUS1, PDGFRL, SLC7A2
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)nsv4153945
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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