A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953737



Internal ID19678991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126264105..126275105hg38UCSC Ensembl
chr11:126134000..126145000hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3811001
hg1911001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4210792
Supporting Variants
Samples
Known GenesFOXRED1, SRPR
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)nssv15953737
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000668


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