A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948988



Internal ID20020928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94375518..94395128hg38UCSC Ensembl
chr11:94108684..94128294hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3819611
hg1919611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4192822
Supporting Variants
Samples
Known GenesGPR83
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)nssv15948988
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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