A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4291874



Internal ID19837034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42449479..42927761hg38UCSC Ensembl
chr22:42845485..43323767hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38478283
hg19478283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968000
Samples
Known GenesA4GALT, ARFGAP3, ATP5L2, CYB5R3, PACSIN2, POLDIP3, RNU12, RRP7A, RRP7B, SERHL, SERHL2
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)nsv4291874
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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