A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv172n166



Internal ID20165600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222720047..222720794hg38UCSC Ensembl
chr1:222893389..222894136hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4059517, nsv4059223
Samples
Known GenesBROX
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)dgv172n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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