A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv450n166



Internal ID22800349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118138912..118144865hg38UCSC Ensembl
chr11:118009627..118015580hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385954
hg195954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4203894, nsv4205845
Samples
Known GenesSCN4B
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)dgv450n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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