A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789660



Internal ID19861712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160034459..160034891hg38UCSC Ensembl
chr2:160890970..160891402hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4342236
Supporting Variants
Samples
Known GenesPLA2R1
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)nssv15789660
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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