A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv423n166



Internal ID22800322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:90367325..90525643hg38UCSC Ensembl
chr11:90100493..90258811hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38158319
hg19158319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4209111, nsv4198276
Samples
Known GenesDISC1FP1
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)dgv423n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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