A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200526



Internal ID20062879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18093854..18648752hg38UCSC Ensembl
chr12:18246788..18801686hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38554899
hg19554899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952294
Samples
Known GenesPIK3C2G
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)nsv4200526
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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