A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989481



Internal ID20061424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:3274287..3590424hg38UCSC Ensembl
chrY:3142328..3458465hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38316138
hg19316138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4043307
Supporting Variants
Samples
Known GenesTGIF2LY
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)nssv15989481
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00134


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