A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4090766



Internal ID20330140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163695865..163696655hg38UCSC Ensembl
chr2:164552375..164553165hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15875808
Samples
Known GenesFIGN
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)nsv4090766
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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