A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4094192



Internal ID20332708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48732322..48763660hg38UCSC Ensembl
chr4:48734339..48765677hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3831339
hg1931339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15890911
Samples
Known GenesFRYL
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)nsv4094192
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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