A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559478



Internal ID20289360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103320106..103320107hg38UCSC Ensembl
chr8:104332334..104332335hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16080981
Samples
Known GenesFZD6
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)nsv4559478
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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