A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562427



Internal ID19945629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184595687..184667611hg38UCSC Ensembl
chr4:185516841..185588765hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3871925
hg1971925
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790394
Samples
Known GenesCASP3, PRIMPOL
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 ID12345678
Accession Number(s)nsv4562427
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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