A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969848



Internal ID20041788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171104973..171105031hg38UCSC Ensembl
chr3:170822762..170822820hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521511
Supporting Variants
Samples
Known GenesTNIK
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)nssv15969848
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012753


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