A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987310



Internal ID20059251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114297855..114322418hg38UCSC Ensembl
chr9:117060135..117084698hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3824564
hg1924564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4175099
Supporting Variants
Samples
Known GenesCOL27A1
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)nssv15987310
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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