A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15810930



Internal ID19883016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93431157..93434174hg38UCSC Ensembl
chr12:93824933..93827950hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383018
hg193018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4226874
Supporting Variants
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)nssv15810930
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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