A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4578166



Internal ID19961355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32221401..32221402hg38UCSC Ensembl
chr20:30809204..30809205hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16033012
Samples
Known GenesPOFUT1
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)nsv4578166
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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