A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15965965



Internal ID20037910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7121352..7415353hg38UCSC Ensembl
chr20:7101999..7396000hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38294002
hg19294002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534541
Supporting Variants
Samples
Known GenesMIR8062
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)nssv15965965
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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