A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16066697



Internal ID19791951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41066988..41066989hg38UCSC Ensembl
chr6:41034727..41034728hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382091
hg192091
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4570466
Supporting Variants
Samples
Known GenesOARD1
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 ID12345678
Accession Number(s)nssv16066697
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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