A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962883



Internal ID19688137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219948658..219968858hg38UCSC Ensembl
chr1:220122000..220142200hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3820201
hg1920201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4055421
Supporting Variants
Samples
Known GenesEPRS, RNU5F-1
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 ID12345678
Accession Number(s)nssv15962883
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