A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080513



Internal ID20322629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236479767..236524321hg38UCSC Ensembl
chr2:237388410..237432964hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3844555
hg1944555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969172
Samples
Known GenesIQCA1
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)nsv4080513
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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