A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4476736



Internal ID19860077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70735500..70735501hg38UCSC Ensembl
chr4:71601217..71601218hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16054059
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 ID12345678
Accession Number(s)nsv4476736
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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