A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047316



Internal ID19827274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:18760114..18804614hg38UCSC Ensembl
chrY:20922000..20966500hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3844501
hg1944501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990327
Samples
Known GenesHSFY1, HSFY2
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)nsv4047316
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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