A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15820248



Internal ID19892334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47617930..47623317hg38UCSC Ensembl
chr14:48087133..48092520hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg385388
hg195388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4225215
Supporting Variants
Samples
Known GenesMDGA2
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)nssv15820248
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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