A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4159380



Internal ID20379898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90923123..90959654hg38UCSC Ensembl
chr8:91935351..91971882hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3836532
hg1936532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983705
Samples
Known GenesC8orf88, NECAB1
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)nsv4159380
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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