A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4230625



Internal ID20431102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89942832..89969270hg38UCSC Ensembl
chr14:90409176..90435614hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3826439
hg1926439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952572
Samples
Known GenesEFCAB11, TDP1
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)nsv4230625
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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