A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2963n166



Internal ID22802862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:5031515..5527094hg38UCSC Ensembl
chrY:4899556..5395135hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38495580
hg19495580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4042770, nsv4044483
Samples
Known GenesPCDH11Y
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)dgv2963n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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