A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4224564



Internal ID20080106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108333709..108338497hg38UCSC Ensembl
chr12:108727486..108732274hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384789
hg194789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15813409
Samples
Known GenesCMKLR1
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)nsv4224564
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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