A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966819



Internal ID19692073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:492354..967357hg38UCSC Ensembl
chr20:472998..948000hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38475004
hg19475003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4532730
Supporting Variants
Samples
Known GenesANGPT4, CSNK2A1, FAM110A, RSPO4, SCRT2, SLC52A3, SRXN1, TCF15
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)nssv15966819
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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