A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969111



Internal ID19694365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233423899..233510445hg38UCSC Ensembl
chr2:234332545..234419091hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3886547
hg1986547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4074420
Supporting Variants
Samples
Known GenesDGKD, USP40
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)nssv15969111
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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