A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16076047



Internal ID20148003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80825074..80825075hg38UCSC Ensembl
chr7:80454390..80454391hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4543533
Supporting Variants
Samples
Known GenesSEMA3C
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)nssv16076047
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer