A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562800



Internal ID20292688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45899318..45899319hg38UCSC Ensembl
chr6:45867055..45867056hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385658
hg195658
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16067342
Samples
Known GenesCLIC5
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)nsv4562800
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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