A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4078428



Internal ID20321112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164771586..164884420hg38UCSC Ensembl
chr2:165628096..165740930hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38112835
hg19112835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970189
Samples
Known GenesCOBLL1
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)nsv4078428
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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