A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15965634



Internal ID20037579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:20957148..21567671hg38UCSC Ensembl
chr21:22329465..22939992hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38610524
hg19610528
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4279387
Supporting Variants
Samples
Known GenesNCAM2, RNU6-67P
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)nssv15965634
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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