A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15812589



Internal ID19884675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104491465..104492553hg38UCSC Ensembl
chr12:104885243..104886331hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4220947
Supporting Variants
Samples
Known GenesCHST11
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)nssv15812589
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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