A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1695n166



Internal ID20167123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126592559..126593436hg38UCSC Ensembl
chr3:126311402..126312279hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4074677, nsv4085521
Samples
Known GenesTXNRD3NB
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)dgv1695n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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