A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1080n166



Internal ID22800979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68693002..68847604hg38UCSC Ensembl
chr18:66360239..66514841hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38154603
hg19154603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4271048, nsv4260426
Samples
Known GenesCCDC102B, TMX3
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)dgv1080n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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