A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16046120



Internal ID20118076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9905058..9905059hg38UCSC Ensembl
chr3:9946742..9946743hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568753
Supporting Variants
Samples
Known GenesIL17RE
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)nssv16046120
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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