A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16024028



Internal ID20095984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66045743..66045744hg38UCSC Ensembl
chr1:66511426..66511427hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4559752
Supporting Variants
Samples
Known GenesPDE4B
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)nssv16024028
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004201


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