A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4219680



Internal ID20076644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116560188..116578549hg38UCSC Ensembl
chr12:116997993..117016354hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3818362
hg1918362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15813318
Samples
Known GenesMAP1LC3B2
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)nsv4219680
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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