A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969998



Internal ID20041938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214234293..214258166hg38UCSC Ensembl
chr2:215099017..215122890hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3823874
hg1923874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4084496
Supporting Variants
Samples
Known GenesSPAG16
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)nssv15969998
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000738


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