A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244476



Internal ID20440473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:229862..246485hg38UCSC Ensembl
chr16:279861..296484hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3816624
hg1916624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954008
Samples
Known GenesITFG3
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 ID32461652
Accession Number(s)nsv4244476
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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