A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2633n166



Internal ID22802532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112786237..112791771hg38UCSC Ensembl
chr8:113798466..113804000hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg385535
hg195535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4164169, nsv4161034
Samples
Known GenesCSMD3
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)dgv2633n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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