A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16077985



Internal ID20149941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28564571..28564572hg38UCSC Ensembl
chr8:28422088..28422089hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4491530
Supporting Variants
Samples
Known GenesFZD3
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)nssv16077985
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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