A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972199



Internal ID20044139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45201485..45248810hg38UCSC Ensembl
chr3:45242977..45290302hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3847326
hg1947326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4075064
Supporting Variants
Samples
Known GenesTMEM158
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)nssv15972199
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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