A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201646



Internal ID20063683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107607844..108089534hg38UCSC Ensembl
chr11:107478570..107960261hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38481691
hg19481692
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv437n166
Supporting Variantsnssv15951112
Samples
Known GenesCUL5, ELMOD1, RAB39A, SLC35F2, SLN
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 ID12345678
Accession Number(s)nsv4201646
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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