A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528400



Internal ID20258519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134282105..134345106hg38UCSC Ensembl
chr11:134151999..134215000hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3863002
hg1963002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15804884
Samples
Known GenesGLB1L2, GLB1L3
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)nsv4528400
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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