A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15858237



Internal ID19930177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38029852..38031836hg38UCSC Ensembl
chr20:36658254..36660238hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381985
hg191985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4289795
Supporting Variants
Samples
Known GenesTTI1
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)nssv15858237
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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