A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562494



Internal ID20292382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:18964063..18964705hg38UCSC Ensembl
chrY:21125949..21126591hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791833
Samples
Known GenesTTTY14
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4562494
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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