A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4550251



Internal ID20280126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197661093..197661094hg38UCSC Ensembl
chr2:198525817..198525818hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16043010
Samples
Known GenesRFTN2
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)nsv4550251
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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