A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4209302



Internal ID20415925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134361888..134762905hg38UCSC Ensembl
chr11:134231782..134632799hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38401018
hg19401018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n166
Supporting Variantsnssv15954386
Samples
Known GenesB3GAT1, GLB1L2, 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)nsv4209302
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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