A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200491



Internal ID20409543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36450937..36463418hg38UCSC Ensembl
chr11:36472487..36484968hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3812482
hg1912482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949662
Samples
Known GenesPRR5L
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)nsv4200491
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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