A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4512730



Internal ID19896145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37369596..37369597hg38UCSC Ensembl
chr21:38741898..38741899hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16033897
Samples
Known GenesDYRK1A
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)nsv4512730
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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