A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4050643



Internal ID20176219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:6038609..6243009hg38UCSC Ensembl
chrY:5906650..6111050hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38204401
hg19204401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990074
Samples
Known GenesTTTY23, TTTY23B
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)nsv4050643
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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