A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980302



Internal ID20052242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:9414599..10332571hg38UCSC Ensembl
chr7:9454229..10372198hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38917973
hg19917970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4144351
Supporting Variants
Samples
Known GenesPER4
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)nssv15980302
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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