A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4263233



Internal ID20106661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6423889..6429989hg38UCSC Ensembl
chr19:6423900..6430000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386101
hg196101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961090
Samples
Known GenesKHSRP, SLC25A41
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)nsv4263233
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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