A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162454



Internal ID20382125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133390518..133444131hg38UCSC Ensembl
chr7:133075272..133128885hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3853614
hg1953614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981938
Samples
Known GenesEXOC4
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)nsv4162454
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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