A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4219619



Internal ID20076594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117986195..118046595hg38UCSC Ensembl
chr12:118424000..118484400hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3860401
hg1960401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949473
Samples
Known GenesRFC5, WSB2
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)nsv4219619
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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