A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339422



Internal ID19840400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36077026..36614161hg38UCSC Ensembl
chr22:36473074..37010208hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38537136
hg19537135
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789373
Samples
Known GenesAPOL1, APOL2, APOL3, APOL4, CACNG2, EIF3D, FOXRED2, MIR6819, MYH9, TXN2
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 ID12345678
Accession Number(s)nsv4339422
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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