A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4072586



Internal ID20316791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117922200..117932694hg38UCSC Ensembl
chr2:118679776..118690270hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3810495
hg1910495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969209
Samples
Known GenesCCDC93
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)nsv4072586
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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