A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4203425



Internal ID20064952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77652589..77688163hg38UCSC Ensembl
chr11:77363634..77399208hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3835575
hg1935575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953610
Samples
Known GenesRSF1
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)nsv4203425
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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