A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039587



Internal ID20168518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:9312391..9335591hg38UCSC Ensembl
chrY:9150000..9173200hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3823201
hg1923201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946003
Samples
Known GenesRBMY1A3P, TTTY20
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)nsv4039587
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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