A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4282185



Internal ID20117368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36103972..36247544hg38UCSC Ensembl
chr21:37476270..37619842hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38143573
hg19143573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967540
Samples
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
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)nsv4282185
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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