A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4198811



Internal ID20408312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55424170..55432139hg38UCSC Ensembl
chr12:55817954..55825923hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387970
hg197970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15809407
Samples
Known GenesOR6C76
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)nsv4198811
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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