A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4270718



Internal ID20458582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66716568..66726387hg38UCSC Ensembl
chr17:64712686..64722505hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg389820
hg199820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1006n166
Supporting Variantsnssv15835249
Samples
Known GenesPRKCA
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)nsv4270718
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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