A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4278108



Internal ID20115575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36161076..36253614hg38UCSC Ensembl
chr22:36557124..36649660hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3892539
hg1992537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968449
Samples
Known GenesAPOL1, APOL2, APOL3, APOL4
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)nsv4278108
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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