A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080579



Internal ID20322675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202293809..202310731hg38UCSC Ensembl
chr2:203158532..203175454hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3816923
hg1916923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1360n166
Supporting Variantsnssv15971099
Samples
Known GenesNOP58
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)nsv4080579
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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