A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15812584



Internal ID19884670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104336913..104338669hg38UCSC Ensembl
chr12:104730691..104732447hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4220383
Supporting Variants
Samples
Known GenesTXNRD1
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)nssv15812584
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.010003


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