A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4284408



Internal ID20465020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25684814..25751914hg38UCSC Ensembl
chr20:25665450..25732550hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3867101
hg1967101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963938
Samples
Known GenesZNF337
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)nsv4284408
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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