A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16007788



Internal ID20079744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70651538..70651539hg38UCSC Ensembl
chr14:71118255..71118256hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg385978
hg195978
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562614
Supporting Variants
Samples
Known GenesTTC9
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)nssv16007788
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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