A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948768



Internal ID20020708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92053203..92087744hg38UCSC Ensembl
chr12:92446979..92481520hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3834542
hg1934542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213289
Supporting Variants
Samples
Known GenesC12orf79
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)nssv15948768
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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