A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15944511



Internal ID20016451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:25527852..25631853hg38UCSC Ensembl
chrY:27673999..27778000hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg38104002
hg19104002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518218
Supporting Variants
Samples
Known GenesCDY1, CDY1B
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)nssv15944511
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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