A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1593n166



Internal ID22801492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4028884..4133718hg38UCSC Ensembl
chr3:4070568..4175402hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38104835
hg19104835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4083063, nsv4087532, nsv4077725
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)dgv1593n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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