A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2973n166



Internal ID22802872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:18858114..19042114hg38UCSC Ensembl
chrY:21020000..21204000hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg38184001
hg19184001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4046076, nsv4037385
Samples
Known GenesCD24, NCRNA00185, TTTY14
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)dgv2973n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer