A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990092



Internal ID19715346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:7128754..7500792hg38UCSC Ensembl
chrY:6996795..7368833hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38372039
hg19372039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4046670
Supporting Variants
Samples
Known GenesPRKY
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)nssv15990092
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000453


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