A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16026378



Internal ID20098334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111758836..111758837hg38UCSC Ensembl
chr1:112301458..112301459hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4564157
Supporting Variants
Samples
Known GenesDDX20
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)nssv16026378
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer