A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345389



Internal ID20188233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79331848..79548783hg38UCSC Ensembl
chr18:77091848..77308783hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38216936
hg19216936
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788718
Samples
Known GenesATP9B, NFATC1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4345389
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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