A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4229819



Internal ID20083855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:107716604..108517930hg38UCSC Ensembl
chr13:108368952..109170278hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38801327
hg19801327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955976
Samples
Known GenesABHD13, FAM155A, LIG4, TNFSF13B
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)nsv4229819
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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