A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1559n166



Internal ID20166987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43015512..43043103hg38UCSC Ensembl
chr22:43411518..43439109hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3827592
hg1927592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4283457, nsv4285322
Samples
Known GenesTTLL1
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 ID12345678
Accession Number(s)dgv1559n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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