A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15809474



Internal ID19881560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62363592..62371154hg38UCSC Ensembl
chr12:62757373..62764935hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg387563
hg197563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211585
Supporting Variants
Samples
Known GenesUSP15
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)nssv15809474
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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