A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15902956



Internal ID19628210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69200879..69206262hg38UCSC Ensembl
chr5:68496706..68502089hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg385384
hg195384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4117028
Supporting Variants
Samples
Known GenesCENPH
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)nssv15902956
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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