A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15809452



Internal ID19881538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61924439..61926032hg38UCSC Ensembl
chr12:62318220..62319813hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4209648
Supporting Variants
Samples
Known GenesFAM19A2
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)nssv15809452
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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