A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220520



Internal ID20423939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36918958..36940231hg38UCSC Ensembl
chr13:37493095..37514368hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3821274
hg1921274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15816211
Samples
Known GenesSMAD9
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)nsv4220520
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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