A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4224497



Internal ID20426738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46950170..46950949hg38UCSC Ensembl
chr14:47419373..47420152hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15820219
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)nsv4224497
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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