A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16041376



Internal ID20113332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144486951..144486952hg38UCSC Ensembl
chr2:145244518..145244519hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg383955
hg193955
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562306
Supporting Variants
Samples
Known GenesZEB2
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)nssv16041376
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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