A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4292058



Internal ID20183734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:15980193..15986021hg38UCSC Ensembl
chr20:15960838..15966666hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg385829
hg195829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964847
Samples
Known GenesMACROD2
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)nsv4292058
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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