A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990335



Internal ID19715589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:18994114..19072514hg38UCSC Ensembl
chrY:21156000..21234400hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3878401
hg1978401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4048884
Supporting Variants
Samples
Known GenesTTTY14
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)nssv15990335
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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