A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15921875



Internal ID19993815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96077037..96078147hg38UCSC Ensembl
chr7:95706349..95707459hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4167620
Supporting Variants
Samples
Known GenesDYNC1I1
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)nssv15921875
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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