A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979961



Internal ID19705215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:41991470..42018491hg38UCSC Ensembl
chr7:42031069..42058090hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3827022
hg1927022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4525203
Supporting Variants
Samples
Known GenesGLI3
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)nssv15979961
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