A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345517



Internal ID20188255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58292396..58293570hg38UCSC Ensembl
chr20:56867452..56868626hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789275
Samples
Known GenesPPP4R1L
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4345517
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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