A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1601n166



Internal ID22801500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4172503..4285947hg38UCSC Ensembl
chr3:4214187..4327631hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38113445
hg19113445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4073853, nsv4090941, nsv4074356
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)dgv1601n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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