A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947105



Internal ID20019045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:18866364..18879114hg38UCSC Ensembl
chrY:21028250..21041000hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3812751
hg1912751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044947
Supporting Variants
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)nssv15947105
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00085


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