A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4338115



Internal ID20186820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:66571404..66889699hg38UCSC Ensembl
chr18:64238641..64556936hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38318296
hg19318296
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788692
Samples
Known GenesCDH19
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)nsv4338115
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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