A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16059248



Internal ID19784502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169737913..169737914hg38UCSC Ensembl
chr4:170659064..170659065hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4539102
Supporting Variants
Samples
Known GenesC4orf27
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)nssv16059248
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.05359


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