A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv461n166



Internal ID22800360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134308987..134762905hg38UCSC Ensembl
chr11:134178881..134632799hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38453919
hg19453919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4209302, nsv4203578
Samples
Known GenesB3GAT1, GLB1L2, GLB1L3, LOC283177
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)dgv461n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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