A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788640



Internal ID19860683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31939791..31940658hg38UCSC Ensembl
chr18:29519754..29520621hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4565985
Supporting Variants
Samples
Known GenesTRAPPC8
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)nssv15788640
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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