A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337479



Internal ID20186699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:209410..248898hg38UCSC Ensembl
chr16:259409..298897hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3839489
hg1939489
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788333
Samples
Known GenesITFG3, LUC7L
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4337479
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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