A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4272324



Internal ID20459721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3341368..3368662hg38UCSC Ensembl
chr20:3322015..3349309hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3827295
hg1927295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15856475
Samples
Known GenesC20orf194
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)nsv4272324
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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