A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336522



Internal ID20186507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49997239..49998057hg38UCSC Ensembl
chr14:50463957..50464775hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788138
Samples
Known GenesC14orf182
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4336522
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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