A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990156



Internal ID19715410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13553019..13999120hg38UCSC Ensembl
chrY:15664899..16111000hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg38446102
hg19446102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517553
Supporting Variants
Samples
Known GenesTMSB4Y, VCY, VCY1B
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)nssv15990156
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000323


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