A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15809417



Internal ID19881503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55562901..55579547hg38UCSC Ensembl
chr12:55956685..55973331hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3816647
hg1916647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4195907
Supporting Variants
Samples
Known GenesOR2AP1
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)nssv15809417
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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