A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4329417



Internal ID20185540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65682230..66277203hg38UCSC Ensembl
chr18:63349466..63944440hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38594974
hg19594975
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091108
Samples
Known GenesCDH7
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 ID32461652
Accession Number(s)nsv4329417
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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