A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990147



Internal ID20062090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:12671562..12674661hg38UCSC Ensembl
chrY:14783492..14786591hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517737
Supporting Variants
Samples
Known GenesTTTY15
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)nssv15990147
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00009


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