A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950888



Internal ID19676142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23322268..23333319hg38UCSC Ensembl
chr14:23791477..23802528hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3811052
hg1911052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4221190
Supporting Variants
Samples
Known GenesBCL2L2-PABPN1, PABPN1
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)nssv15950888
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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