A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4516790



Internal ID19900220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:17393171..18648452hg38UCSC Ensembl
chrY:19505051..20810338hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg381255282
hg191305288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990316
Samples
Known GenesCDY2A, CDY2B, FAM224A, FAM224B, FAM41AY1, FAM41AY2, HSFY1, HSFY2, TTTY9A, TTTY9B, XKRY, XKRY2
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)nsv4516790
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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