A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4195247



Internal ID20405727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11264067..11298066hg38UCSC Ensembl
chr12:11417000..11451000hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3834000
hg1934001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15806353
Samples
Known GenesPRB3
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)nsv4195247
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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