A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4279547



Internal ID20116191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42671830..42713873hg38UCSC Ensembl
chr22:43067836..43109879hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3842044
hg1942044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15864209
Samples
Known GenesA4GALT
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)nsv4279547
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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