A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2512n166



Internal ID22802411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1731753..1829609hg38UCSC Ensembl
chr8:1679919..1777775hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3897857
hg1997857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4168518, nsv4524300
Samples
Known GenesARHGEF10, CLN8, MIR596
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)dgv2512n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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