A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967565



Internal ID19692819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37361398..37368898hg38UCSC Ensembl
chr21:38733700..38741200hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4282754
Supporting Variants
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)nssv15967565
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00182


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