A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4280767



Internal ID20463414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40161654..40176324hg38UCSC Ensembl
chr22:40557658..40572328hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3814671
hg1914671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967947
Samples
Known GenesTNRC6B
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)nsv4280767
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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