A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966650



Internal ID20038590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16563244..16563952hg38UCSC Ensembl
chr21:17935564..17936272hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4289025
Supporting Variants
Samples
Known GenesLINC00478
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)nssv15966650
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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