A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951118



Internal ID20023058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107699176..107902808hg38UCSC Ensembl
chr11:107569902..107773534hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38203633
hg19203633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4208296
Supporting Variants
Samples
Known GenesSLC35F2, SLN
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 ID32461652
Accession Number(s)nssv15951118
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000049


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