A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959533



Internal ID19684787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44901632..44907832hg38UCSC Ensembl
chr17:42979000..42985200hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4259677
Supporting Variants
Samples
Known GenesCCDC103, GFAP
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)nssv15959533
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000145


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