A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4334486



Internal ID19839446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134185935..134481160hg38UCSC Ensembl
chr11:134055830..134351054hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38295226
hg19295225
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787677
Samples
Known GenesACAD8, B3GAT1, GLB1L2, GLB1L3, LOC283177, NCAPD3, THYN1, VPS26B
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4334486
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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