A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15806336



Internal ID19878422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10925220..10950133hg38UCSC Ensembl
chr12:11077819..11102732hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3824914
hg1924914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211102
Supporting Variants
Samples
Known GenesPRH1-PRR4, PRH2, TAS2R14
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)nssv15806336
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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