A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15807987



Internal ID19880073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45744813..45745887hg38UCSC Ensembl
chr12:46138596..46139670hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381075
hg191075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4208525
Supporting Variants
Samples
Known GenesARID2
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)nssv15807987
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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