A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968911



Internal ID20040851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40448315..40466576hg38UCSC Ensembl
chr2:40675455..40693716hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3818262
hg1918262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4060449
Supporting Variants
Samples
Known GenesSLC8A1
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)nssv15968911
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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