A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16010748



Internal ID20082704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47664406..47664407hg38UCSC Ensembl
chr15:47956603..47956604hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381231
hg191231
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4573893
Supporting Variants
Samples
Known GenesSEMA6D
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)nssv16010748
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008787


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