A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968364



Internal ID19693618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31456014..31552014hg38UCSC Ensembl
chr22:31852000..31948000hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3896001
hg1996001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4278913
Supporting Variants
Samples
Known GenesEIF4ENIF1, SFI1
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)nssv15968364
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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