A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16079858



Internal ID20151814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37719760..37719761hg38UCSC Ensembl
chr8:37577278..37577279hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4556458
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)nssv16079858
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.155574


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