A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560676



Internal ID20290559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33502076..33522347hg38UCSC Ensembl
chr19:33992982..34013253hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3820272
hg1920272
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090111
Samples
Known GenesPEPD
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)nsv4560676
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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