A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4224266



Internal ID20079899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109861698..109869288hg38UCSC Ensembl
chr12:110299503..110307093hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg387591
hg197591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950541
Samples
Known GenesGLTP
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)nsv4224266
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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