A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15856387



Internal ID19581641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2096949..2099004hg38UCSC Ensembl
chr20:2077595..2079650hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382056
hg192056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4267691
Supporting Variants
Samples
Known Genes
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)nssv15856387
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001014


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