A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2082n166



Internal ID20167510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175494699..175500776hg38UCSC Ensembl
chr5:174921702..174927779hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg386078
hg196078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4124586, nsv4123747
Samples
Known GenesSFXN1
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)dgv2082n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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