A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15810398



Internal ID19882484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69260870..69261500hg38UCSC Ensembl
chr12:69654650..69655280hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4198509
Supporting Variants
Samples
Known GenesCPSF6
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)nssv15810398
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000796


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