A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4535368



Internal ID19918724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17093109..17241110hg38UCSC Ensembl
chr22:17573999..17722000hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38148002
hg19148002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965665
Samples
Known GenesCECR1, CECR5, CECR5-AS1, CECR6, IL17RA, LOC100996342
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)nsv4535368
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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