A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4568434



Internal ID20298317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26373136..26373137hg38UCSC Ensembl
chr4:26374758..26374759hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381241
hg191241
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16052906
Samples
Known GenesRBPJ
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)nsv4568434
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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