A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950833



Internal ID20022773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20411985..20432580hg38UCSC Ensembl
chr14:20880144..20900739hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3820596
hg1920596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4214051
Supporting Variants
Samples
Known GenesKLHL33, TEP1
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 ID32461652
Accession Number(s)nssv15950833
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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