A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4521241



Internal ID19904671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:24410376..24691477hg38UCSC Ensembl
chr4:24411999..24693100hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38281102
hg19281102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973407
Samples
Known GenesDHX15, MIR573
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)nsv4521241
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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