A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4517069



Internal ID19900499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:18840113..19490114hg38UCSC Ensembl
chrY:21001999..21652000hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg38650002
hg19650002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990331
Samples
Known GenesBCORP1, CD24, NCRNA00185, TTTY14
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 ID12345678
Accession Number(s)nsv4517069
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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