A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201820



Internal ID20410499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75647106..75657236hg38UCSC Ensembl
chr11:75358151..75368281hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3810131
hg1910131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953595
Samples
Known GenesMAP6
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)nsv4201820
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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