A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1989n166



Internal ID20167417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37163589..37718935hg38UCSC Ensembl
chr5:37163691..37719037hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38555347
hg19555347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4126991, nsv4130576, nsv4120041
Samples
Known GenesC5orf42, NUP155, WDR70
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)dgv1989n166
Frequency
Sample Size10847
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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