A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4534019



Internal ID19917421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42702474..42703012hg38UCSC Ensembl
chr22:43098480..43099018hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15864211
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)nsv4534019
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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