A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4534379



Internal ID19917770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46670360..46754361hg38UCSC Ensembl
chr20:45298999..45383000hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3884002
hg1984002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1474n166
Supporting Variantsnssv15964378
Samples
Known GenesSLC13A3, SLC2A10, TP53RK
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 ID12345678
Accession Number(s)nsv4534379
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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