A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156742



Internal ID20377980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108143011..108229992hg38UCSC Ensembl
chr8:109155239..109242221hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3886982
hg1986983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985001
Samples
Known GenesEIF3E
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)nsv4156742
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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