A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979489



Internal ID20051429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:140452559..141888486hg38UCSC Ensembl
chr6:140773696..142209623hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg381435928
hg191435928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4147911
Supporting Variants
Samples
Known GenesMIR4465
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 ID32461652
Accession Number(s)nssv15979489
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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