A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959258



Internal ID19684512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8116682..8166982hg38UCSC Ensembl
chr17:8020000..8070300hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3850301
hg1950301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4242086
Supporting Variants
Samples
Known GenesALOXE3, HES7, MIR6883, PER1, VAMP2
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)nssv15959258
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