A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4574540



Internal ID20304415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20781789..20781790hg38UCSC Ensembl
chr16:20793111..20793112hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16015719
Samples
Known GenesACSM3, ERI2
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)nsv4574540
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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