A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4214889



Internal ID20073248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18918478..19123233hg38UCSC Ensembl
chr13:19492618..19697373hg19UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38204756
hg19204756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955939
Samples
Known GenesLINC00408, LINC00442
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)nsv4214889
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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