A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967906



Internal ID20039846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46794681..46829965hg38UCSC Ensembl
chr2:47021820..47057104hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3835285
hg1935285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4058745
Supporting Variants
Samples
Known GenesLINC01118, LINC01119
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)nssv15967906
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