A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4169112



Internal ID20386989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127740065..127745937hg38UCSC Ensembl
chr8:128752311..128758183hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385873
hg195873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985229
Samples
Known GenesMYC
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)nsv4169112
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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