A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4224565



Internal ID20080107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108687783..108695613hg38UCSC Ensembl
chr12:109081559..109089389hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg387831
hg197831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950511
Samples
Known GenesCORO1C
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 ID12345678
Accession Number(s)nsv4224565
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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