A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2964n166



Internal ID22802863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:5755025..5810352hg38UCSC Ensembl
chrY:5623066..5678393hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3855328
hg1955328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4048986, nsv4518149
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 ID32461652
Accession Number(s)dgv2964n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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