A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15814053



Internal ID19886139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116251433..116254782hg38UCSC Ensembl
chr12:116689238..116692587hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4230371
Supporting Variants
Samples
Known GenesMED13L
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)nssv15814053
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00378


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