A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970242



Internal ID19695496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191835274..191929274hg38UCSC Ensembl
chr2:192700000..192794000hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3894001
hg1994001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4091128
Supporting Variants
Samples
Known GenesSDPR
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)nssv15970242
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