A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16036318



Internal ID20108274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46569876..46569877hg38UCSC Ensembl
chr2:46797015..46797016hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382374
hg192374
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4572054
Supporting Variants
Samples
Known GenesLOC100506142, RHOQ
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)nssv16036318
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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