A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4324534



Internal ID20185215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30898119..30900008hg38UCSC Ensembl
chr11:30919666..30921555hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg381890
hg191890
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090749
Samples
Known GenesDCDC5
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)nsv4324534
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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