A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1440n166



Internal ID22801339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14814431..15084747hg38UCSC Ensembl
chr20:14795077..15065393hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38270317
hg19270317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4280431, nsv4280686, nsv4286802, nsv4287070
Samples
Known GenesMACROD2, MACROD2-AS1
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)dgv1440n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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