A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4211893



Internal ID20417772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3394539..3593668hg38UCSC Ensembl
chr11:3415769..3614898hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38199130
hg19199130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322n166
Supporting Variantsnssv15952260
Samples
Known GenesLOC650368
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)nsv4211893
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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