A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276041



Internal ID20461343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35728754..35728830hg38UCSC Ensembl
chr22:36124801..36124877hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968440
Samples
Known GenesAPOL5
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)nsv4276041
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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