A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975489



Internal ID19700743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87108330..87291842hg38UCSC Ensembl
chr4:88029482..88212994hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38183513
hg19183513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4101946
Supporting Variants
Samples
Known GenesAFF1, KLHL8
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)nssv15975489
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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