A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153230



Internal ID20375420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108462605..108463807hg38UCSC Ensembl
chr8:109474834..109476036hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381203
hg191203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985006
Samples
Known GenesEMC2
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)nsv4153230
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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