A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969972



Internal ID19695226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210339243..210681832hg38UCSC Ensembl
chr2:211203967..211546556hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38342590
hg19342590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4072671
Supporting Variants
Samples
Known GenesCPS1, CPS1-IT1, LANCL1
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)nssv15969972
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