A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967497



Internal ID19692751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36509952..36609953hg38UCSC Ensembl
chr22:36905999..37006000hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38100002
hg19100002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534260
Supporting Variants
Samples
Known GenesCACNG2, EIF3D
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)nssv15967497
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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