A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4216330



Internal ID20420948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93442034..93442871hg38UCSC Ensembl
chr12:93835810..93836647hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15810932
Samples
Known GenesUBE2N
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)nsv4216330
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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