A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964816



Internal ID19690073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13413087..13829480hg38UCSC Ensembl
chr20:13393734..13810126hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38416394
hg19416393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4287363
Supporting Variants
Samples
Known GenesESF1, NDUFAF5, TASP1
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)nssv15964816
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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