A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563212



Internal ID20293101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55621429..55621920hg38UCSC Ensembl
chr18:53288660..53289151hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1069n166
Supporting Variantsnssv15788677
Samples
Known GenesTCF4
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)nsv4563212
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer