A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15865156



Internal ID19937096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46982440..46995477hg38UCSC Ensembl
chr22:47378336..47391373hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3813038
hg1913038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4289807
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)nssv15865156
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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