A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4259063



Internal ID20450439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42977848..42980910hg38UCSC Ensembl
chr17:41129865..41132927hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383063
hg193063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958944
Samples
Known GenesPTGES3L, PTGES3L-AARSD1, RUNDC1
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)nsv4259063
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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