A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2818n166



Internal ID22802717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138092481..138200239hg38UCSC Ensembl
chr9:140986933..141090689hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38107759
hg19103757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4176930, nsv4186431
Samples
Known GenesCACNA1B, TUBBP5
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)dgv2818n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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