A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15858189



Internal ID19583443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36989124..37036797hg38UCSC Ensembl
chr20:35617527..35665200hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3847674
hg1947674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4292361
Supporting Variants
Samples
Known GenesRBL1
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)nssv15858189
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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