A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15867299



Internal ID19592553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50711572..50763572hg38UCSC Ensembl
chr22:51150000..51202000hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3852001
hg1952001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4276710
Supporting Variants
Samples
Known GenesACR, RPL23AP82, SHANK3
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)nssv15867299
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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