A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4167078



Internal ID20385507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99052772..99083772hg38UCSC Ensembl
chr8:100065000..100096000hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3831001
hg1931001
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984342, nssv15933422
Samples
Known GenesVPS13B
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)nsv4167078
Frequency
Sample Size10847
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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