A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040890



Internal ID20169407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:23915403..23954103hg38UCSC Ensembl
chrY:26061550..26100250hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3838701
hg1938701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990498
Samples
Known GenesTTTY3, TTTY3B
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)nsv4040890
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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