A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15792741



Internal ID19864824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18214147..18214660hg38UCSC Ensembl
chr10:18503076..18503589hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4173663
Supporting Variants
Samples
Known GenesCACNB2
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)nssv15792741
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.552211


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