A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1443n166



Internal ID22801342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14868497..15258760hg38UCSC Ensembl
chr20:14849143..15239406hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38390264
hg19390264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4274880, nsv4279630, nsv4280255, nsv4285152, nsv4275614
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)dgv1443n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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