A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4229137



Internal ID20430055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118010195..118024195hg38UCSC Ensembl
chr12:118448000..118462000hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15814135
Samples
Known GenesRFC5
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)nsv4229137
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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