A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15944508



Internal ID20016448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:25093852..25288853hg38UCSC Ensembl
chrY:27239999..27435000hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg38195002
hg19195002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4516633
Supporting Variants
Samples
Known GenesTTTY17A, TTTY17B, TTTY17C, TTTY4, TTTY4B, TTTY4C
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)nssv15944508
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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