A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969381



Internal ID19694635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207552359..207834863hg38UCSC Ensembl
chr2:208417083..208699587hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38282505
hg19282505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088222
Supporting Variants
Samples
Known GenesCCNYL1, CREB1, FZD5, METTL21A, MIR4775, PLEKHM3
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)nssv15969381
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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