A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15857787



Internal ID19929727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:524674..525920hg38UCSC Ensembl
chr20:505318..506564hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4267143
Supporting Variants
Samples
Known GenesCSNK2A1
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)nssv15857787
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000184


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