A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4273181



Internal ID20460119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14433574..14478666hg38UCSC Ensembl
chr20:14414220..14459312hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3845093
hg1945093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15859231
Samples
Known GenesMACROD2
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)nsv4273181
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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