A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981103



Internal ID19706357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83963684..84019684hg38UCSC Ensembl
chr7:83593000..83649000hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3856001
hg1956001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4141439
Supporting Variants
Samples
Known GenesSEMA3A
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)nssv15981103
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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