A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4194136



Internal ID20404923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56941216..56982466hg38UCSC Ensembl
chr12:57335000..57376250hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3841251
hg1941251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953178
Samples
Known GenesRDH16
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)nsv4194136
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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