A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563194



Internal ID20293083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168479649..168479650hg38UCSC Ensembl
chr4:169400800..169400801hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16057923
Samples
Known GenesDDX60L
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)nsv4563194
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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