A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260639



Internal ID20451532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3753353..3781353hg38UCSC Ensembl
chr20:3734000..3762000hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3828001
hg1928001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965889
Samples
Known GenesC20orf27, SPEF1
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)nsv4260639
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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