A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4215526



Internal ID20420396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80618593..80781304hg38UCSC Ensembl
chr14:81084937..81247648hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38162712
hg19162712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15820612
Samples
Known GenesCEP128
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)nsv4215526
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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