A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950432



Internal ID19675686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58716104..59011747hg38UCSC Ensembl
chr11:58483577..58779220hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38295644
hg19295644
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4207706
Supporting Variants
Samples
Known GenesGLYAT, GLYATL1, GLYATL2, LOC283194
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)nssv15950432
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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