A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787668



Internal ID19513009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125961132..125961367hg38UCSC Ensembl
chr11:125831027..125831262hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4564319
Supporting Variants
Samples
Known GenesCDON
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)nssv15787668
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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