A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959405



Internal ID19684659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12913899..13184728hg38UCSC Ensembl
chr18:12913898..13184727hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38270830
hg19270830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4261179
Supporting Variants
Samples
Known GenesCEP192, SEH1L
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 ID12345678
Accession Number(s)nssv15959405
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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