A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15819589



Internal ID19544989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20775660..20783341hg38UCSC Ensembl
chr14:21243819..21251500hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg387682
hg197682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4224290
Supporting Variants
Samples
Known GenesRNASE6
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)nssv15819589
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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