A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990993



Internal ID20062937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:21527114..21541114hg38UCSC Ensembl
chrY:23689000..23703000hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4037409
Supporting Variants
Samples
Known GenesRBMY1A1, RBMY1B, RBMY1D
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)nssv15990993
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.464417


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