A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4208765



Internal ID20068837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126252239..126259715hg38UCSC Ensembl
chr11:126122134..126129610hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg387477
hg197477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953736
Samples
Known GenesFAM118B
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 ID12345678
Accession Number(s)nsv4208765
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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