A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206104



Internal ID20413578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44879385..44889753hg38UCSC Ensembl
chr12:45273168..45283536hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810369
hg1910369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15808521
Samples
Known GenesNELL2
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 ID32461652
Accession Number(s)nsv4206104
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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