A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949346



Internal ID20021286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94169224..94178224hg38UCSC Ensembl
chr12:94563000..94572000hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213483
Supporting Variants
Samples
Known GenesPLXNC1
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)nssv15949346
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00014


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