A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4284941



Internal ID20118580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50006398..50235769hg38UCSC Ensembl
chr22:50444827..50674198hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38229372
hg19229372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965831
Samples
Known GenesIL17REL, MLC1, MOV10L1, PANX2, SELO, TRABD, TUBGCP6
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)nsv4284941
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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