A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134337



Internal ID20361729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47554826..47566878hg38UCSC Ensembl
chr7:47594424..47606476hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3812053
hg1912053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980024
Samples
Known GenesTNS3
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)nsv4134337
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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