A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4288325



Internal ID20466755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25506190..25524954hg38UCSC Ensembl
chr20:25486826..25505590hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3818765
hg1918765
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963933
Samples
Known GenesNINL
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)nsv4288325
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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