A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560940



Internal ID20290824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36229001..36264166hg38UCSC Ensembl
chr22:36625047..36660212hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3835166
hg1935166
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1548n166
Supporting Variantsnssv15789375
Samples
Known GenesAPOL1, APOL2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4560940
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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