A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2969n166



Internal ID20168397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13097695..13247620hg38UCSC Ensembl
chrY:15209609..15359500hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg38149926
hg19149892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4517700, nsv4518415
Samples
Known Genes
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)dgv2969n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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