A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959634



Internal ID20031574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63876260..63913575hg38UCSC Ensembl
chr17:61953620..61990935hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3837316
hg1937316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4265372
Supporting Variants
Samples
Known GenesCSH1, CSHL1, GH2
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)nssv15959634
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0006


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