A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1908n166



Internal ID20167336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183655518..183660998hg38UCSC Ensembl
chr4:184576671..184582151hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385481
hg195481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4119080, nsv4132208
Samples
Known GenesRWDD4, TRAPPC11
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)dgv1908n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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