A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789812



Internal ID19515178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:73008047..73009097hg38UCSC Ensembl
chr3:73057198..73058248hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334561
Supporting Variants
Samples
Known GenesPPP4R2
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)nssv15789812
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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