A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787677



Internal ID19513018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134185935..134481160hg38UCSC Ensembl
chr11:134055830..134351054hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38295226
hg19295225
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334486
Supporting Variants
Samples
Known GenesACAD8, B3GAT1, GLB1L2, GLB1L3, LOC283177, NCAPD3, THYN1, VPS26B
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)nssv15787677
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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