A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv436n166



Internal ID22800335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107555139..107556285hg38UCSC Ensembl
chr11:107425865..107427011hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4206612, nsv4528159
Samples
Known GenesALKBH8
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)dgv436n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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