A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260569



Internal ID20104794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11419825..11453219hg38UCSC Ensembl
chr19:11530501..11564034hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3833395
hg1933534
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962248
Samples
Known GenesCCDC151, ELAVL3, PRKCSH
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)nsv4260569
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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