A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569064



Internal ID19952259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210189358..210189359hg38UCSC Ensembl
chr2:211054082..211054083hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16042614
Samples
Known GenesACADL
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)nsv4569064
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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