A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981834



Internal ID19707088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77891449..78389807hg38UCSC Ensembl
chr7:77520766..78019124hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38498359
hg19498359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4139072
Supporting Variants
Samples
Known GenesMAGI2, MIR548AU, PHTF2, RPL13AP17
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)nssv15981834
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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