A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16087401



Internal ID20159357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98701201..98701202hg38UCSC Ensembl
chr9:101463483..101463484hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4569831
Supporting Variants
Samples
Known GenesGABBR2
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)nssv16087401
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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