A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1603n166



Internal ID22801502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4223615..4308772hg38UCSC Ensembl
chr3:4265299..4350456hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3885158
hg1985158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4085040, nsv4081889
Samples
Known GenesSETMAR
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)dgv1603n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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