A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4274446



Internal ID20113970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21686410..21720699hg38UCSC Ensembl
chr20:21667048..21701337hg19UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg3834290
hg1934290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964905
Samples
Known GenesPAX1
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)nsv4274446
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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