A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15994867



Internal ID20066823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119592445..119592446hg38UCSC Ensembl
chr10:121351957..121351958hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4483101
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 ID32461652
Accession Number(s)nssv15994867
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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