A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv322n166



Internal ID22800221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3394539..3593770hg38UCSC Ensembl
chr11:3415769..3615000hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38199232
hg19199232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4528599, nsv4211893
Samples
Known GenesLOC650368
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)dgv322n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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