A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193059



Internal ID20404135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55216429..55221392hg38UCSC Ensembl
chr12:55610213..55615176hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384964
hg194964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv513n166
Supporting Variantsnssv15809394
Samples
Known GenesOR10A7
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)nsv4193059
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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