A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966726



Internal ID20038666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44492310..44499865hg38UCSC Ensembl
chr21:45912193..45919748hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387556
hg197556
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4278412
Supporting Variants
Samples
Known GenesTSPEAR
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)nssv15966726
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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