A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566393



Internal ID20296279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10908561..10908562hg38UCSC Ensembl
chr12:11061160..11061161hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15998747
Samples
Known GenesPRH1-PRR4, TAS2R13
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)nsv4566393
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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