A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16049911



Internal ID20121867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141207643..141207644hg38UCSC Ensembl
chr3:140926485..140926486hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4469462
Supporting Variants
Samples
Known Genes
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)nssv16049911
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004554


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