A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967675



Internal ID19692929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18020233..18128233hg38UCSC Ensembl
chr22:18502999..18611000hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38108001
hg19108002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534042
Supporting Variants
Samples
Known GenesFLJ41941, MICAL3, PEX26, TUBA8
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)nssv15967675
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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