A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4570479



Internal ID20300360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62290135..62290136hg38UCSC Ensembl
chr18:59957368..59957369hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16020932
Samples
Known GenesKIAA1468
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)nsv4570479
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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