A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16041235



Internal ID20113191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203405636..203405637hg38UCSC Ensembl
chr2:204270359..204270360hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4565882
Supporting Variants
Samples
Known GenesABI2
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)nssv16041235
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000507


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