A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990483



Internal ID20062426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:23220853..23230853hg38UCSC Ensembl
chrY:25367000..25377000hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4033076
Supporting Variants
Samples
Known GenesDAZ2, DAZ3, DAZ4
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)nssv15990483
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00083


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