A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563909



Internal ID19947115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83152023..83152024hg38UCSC Ensembl
chr6:83861742..83861743hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg382371
hg192371
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16069273
Samples
Known GenesDOPEY1
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)nsv4563909
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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