A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952769



Internal ID19678023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55381347..55453758hg38UCSC Ensembl
chr14:55848065..55920476hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3872412
hg1972412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4216429
Supporting Variants
Samples
Known GenesATG14, TBPL2
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)nssv15952769
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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