A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987115



Internal ID19712369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:119168600..119168661hg38UCSC Ensembl
chr9:121930878..121930939hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4525663
Supporting Variants
Samples
Known GenesBRINP1
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)nssv15987115
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.114854


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