A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4327354



Internal ID19838739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64397099..64397347hg38UCSC Ensembl
chr14:64863817..64864065hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090844
Samples
Known GenesMIR548AZ, MTHFD1
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)nsv4327354
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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