A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4143816



Internal ID20021901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19668..126791hg38UCSC Ensembl
chr7:19668..126791hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38107124
hg19107124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2262n166
Supporting Variantsnssv15979771
Samples
Known Genes
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)nsv4143816
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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