A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4110331



Internal ID19998026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22706354..22789087hg38UCSC Ensembl
chr4:22707977..22790710hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3882734
hg1982734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1785n166
Supporting Variantsnssv15889938
Samples
Known GenesGBA3
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)nsv4110331
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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