A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4228454



Internal ID20429544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:98350998..98979706hg38UCSC Ensembl
chr14:98817335..99446043hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38628709
hg19628709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956976
Samples
Known GenesC14orf177
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)nsv4228454
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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