A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4321546



Internal ID19838354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:455785..956344hg38UCSC Ensembl
chr5:455900..956459hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38500560
hg19500560
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091342
Samples
Known GenesBRD9, CEP72, EXOC3, LOC100996325, MIR4456, PP7080, SLC9A3, TPPP, TRIP13, ZDHHC11
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)nsv4321546
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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