A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4209127



Internal ID20415803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33654097..33654218hg38UCSC Ensembl
chr11:33675643..33675764hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15802182
Samples
Known GenesKIAA1549L
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)nsv4209127
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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