A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156078



Internal ID20030797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79883927..80359280hg38UCSC Ensembl
chr8:80796162..81271515hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38475354
hg19475354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984304
Samples
Known GenesMIR5708, MRPS28, TPD52
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 ID12345678
Accession Number(s)nsv4156078
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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