A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4290541



Internal ID20121092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:25716892..25730447hg38UCSC Ensembl
chr21:27089204..27102758hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3813556
hg1913555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966293
Samples
Known GenesATP5J, JAM2
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)nsv4290541
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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