A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16036166



Internal ID20108122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46902832..46902833hg38UCSC Ensembl
chr22:47298728..47298729hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4561236
Supporting Variants
Samples
Known GenesTBC1D22A
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 ID32461652
Accession Number(s)nssv16036166
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010563


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