A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4568391



Internal ID19951588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42710329..42710330hg38UCSC Ensembl
chr8:42565472..42565473hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16078772
Samples
Known GenesCHRNB3
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)nsv4568391
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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