A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105283



Internal ID20340988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70796858..70799833hg38UCSC Ensembl
chr4:71662575..71665550hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382976
hg192976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15892140
Samples
Known GenesRUFY3
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)nsv4105283
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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