A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15862719



Internal ID19587973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31106327..31120518hg38UCSC Ensembl
chr22:31502313..31516504hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3814192
hg1914192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4276986
Supporting Variants
Samples
Known GenesSELM
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)nssv15862719
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00005


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