A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4279714



Internal ID20462943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56471321..56479896hg38UCSC Ensembl
chr20:55046377..55054952hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg388576
hg198576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15859853
Samples
Known GenesRTFDC1
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)nsv4279714
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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