A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946491



Internal ID20018431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13458891..13464032hg38UCSC Ensembl
chrY:15570771..15575912hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg385142
hg195142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4045934
Supporting Variants
Samples
Known GenesUTY
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)nssv15946491
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000183


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