A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256627



Internal ID20448720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39111492..39148770hg38UCSC Ensembl
chr17:37267745..37305023hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3837279
hg1937279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958922
Samples
Known GenesPLXDC1
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)nsv4256627
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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