A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970607



Internal ID19695861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46975510..46980660hg38UCSC Ensembl
chr3:47017000..47022150hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385151
hg195151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4082472
Supporting Variants
Samples
Known GenesCCDC12, NBEAL2
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)nssv15970607
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003934


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