A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4266151



Internal ID20455375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14320521..14422868hg38UCSC Ensembl
chr18:14320520..14422867hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38102348
hg19102348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15838807
Samples
Known GenesCYP4F35P
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)nsv4266151
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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