A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276289



Internal ID20114756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29190679..29211879hg38UCSC Ensembl
chr21:30563000..30584200hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3821201
hg1921201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964972
Samples
Known GenesLINC00189
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)nsv4276289
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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