A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1085n166



Internal ID22800984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:71192253..71529978hg38UCSC Ensembl
chr18:68859489..69197214hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38337726
hg19337726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4269273, nsv4262599
Samples
Known GenesLOC100505776
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)dgv1085n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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