A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080091



Internal ID20322333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213424801..213465435hg38UCSC Ensembl
chr2:214289525..214330159hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3840635
hg1940635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15875221
Samples
Known GenesSPAG16
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)nsv4080091
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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