A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4287909



Internal ID20119891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17962311..17974209hg38UCSC Ensembl
chr20:17942954..17954852hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3811899
hg1911899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964863
Samples
Known GenesMGME1, SNORD17, SNX5
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)nsv4287909
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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