A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4104456



Internal ID19993670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158658715..158672165hg38UCSC Ensembl
chr4:159579867..159593317hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3813451
hg1913451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974201
Samples
Known GenesC4orf46, ETFDH
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)nsv4104456
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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