A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4516544



Internal ID20246663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:6897931..7098791hg38UCSC Ensembl
chrY:6765972..6966832hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38200861
hg19200861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2966n166
Supporting Variantsnssv15990089
Samples
Known GenesTBL1Y
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)nsv4516544
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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