A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv559n166



Internal ID22800458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117075860..117075971hg38UCSC Ensembl
chr12:117513665..117513776hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4529110, nsv4530656, nsv4232421
Samples
Known GenesTESC
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)dgv559n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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