A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv493n166



Internal ID20165921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24735857..25111437hg38UCSC Ensembl
chr12:24888791..25264371hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38375581
hg19375581
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4204732, nsv4207916
Samples
Known GenesBCAT1, C12orf77, CASC1, LRMP
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)dgv493n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer