A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4530189



Internal ID20260308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70322423..70322487hg38UCSC Ensembl
chr12:70716203..70716267hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948665
Samples
Known GenesCNOT2
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)nsv4530189
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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