A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4203494



Internal ID20065004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67390529..67404029hg38UCSC Ensembl
chr11:67158000..67171500hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3813501
hg1913501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947423
Samples
Known GenesLOC100130987, PPP1CA, RAD9A, TBC1D10C
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 ID12345678
Accession Number(s)nsv4203494
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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