A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345811



Internal ID20188318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78863434..78873797hg38UCSC Ensembl
chr7:78492750..78503113hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3810364
hg1910364
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791135
Samples
Known GenesMAGI2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4345811
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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