A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4261200



Internal ID20105246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26143372..26168909hg38UCSC Ensembl
chr18:23723336..23748873hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3825538
hg1925538
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959087
Samples
Known GenesPSMA8
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)nsv4261200
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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