A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217344



Internal ID20421675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65471160..65488421hg38UCSC Ensembl
chr14:65937878..65955139hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3817262
hg1917262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15821892
Samples
Known GenesFUT8
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)nsv4217344
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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