A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4564630



Internal ID20294518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66386697..66389050hg38UCSC Ensembl
chr16:66420600..66422953hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg382354
hg192354
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788402
Samples
Known GenesCDH5
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)nsv4564630
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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