A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052065



Internal ID20177206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:18840114..18929414hg38UCSC Ensembl
chrY:21002000..21091300hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3889301
hg1989301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990329
Samples
Known GenesNCRNA00185
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)nsv4052065
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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