A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16010888



Internal ID20082844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89833182..89833183hg38UCSC Ensembl
chr14:90299526..90299527hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4328536
Supporting Variants
Samples
Known GenesEFCAB11
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)nssv16010888
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003595


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