A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15994866



Internal ID19720120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119583992..119583993hg38UCSC Ensembl
chr10:121343504..121343505hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4576920
Supporting Variants
Samples
Known GenesTIAL1
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)nssv15994866
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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