A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958348



Internal ID20030288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79323692..79463597hg38UCSC Ensembl
chr17:77319774..77459679hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38139906
hg19139906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4254929
Supporting Variants
Samples
Known GenesRBFOX3
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)nssv15958348
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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