A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4218779



Internal ID20076002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109921410..110047485hg38UCSC Ensembl
chr12:110359215..110485290hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38126076
hg19126076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950545
Samples
Known GenesANKRD13A, C12orf76, GIT2
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)nsv4218779
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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