A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4553255



Internal ID20283130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71406797..71406798hg38UCSC Ensembl
chr11:71117843..71117844hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15995248
Samples
Known GenesFLJ42102
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)nsv4553255
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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