A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1956n166



Internal ID22801855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17411716..17511422hg38UCSC Ensembl
chr5:17411825..17511531hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3899707
hg1999707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4115134, nsv4130987
Samples
Known Genes
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)dgv1956n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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