A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15812389



Internal ID19884475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107730621..107733747hg38UCSC Ensembl
chr12:108124398..108127524hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383127
hg193127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4219050
Supporting Variants
Samples
Known GenesPRDM4
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)nssv15812389
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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