A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963980



Internal ID20035920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44958084..44958143hg38UCSC Ensembl
chr20:43586725..43586784hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4286519
Supporting Variants
Samples
Known GenesTOMM34
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)nssv15963980
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001063


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