A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15991012



Internal ID20062956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:22826853..22892853hg38UCSC Ensembl
chrY:24973000..25039000hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3866001
hg1966001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4045649
Supporting Variants
Samples
Known GenesTTTY17A, TTTY17B, TTTY17C
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)nssv15991012
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.15317


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