A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4267820



Internal ID20109874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52158462..52201527hg38UCSC Ensembl
chr19:52661715..52704780hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3843066
hg1943066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961861
Samples
Known GenesPPP2R1A, ZNF836
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)nsv4267820
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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