A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989980



Internal ID19715234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:145878301..146043107hg38UCSC Ensembl
chrX:144959819..145124625hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38164807
hg19164807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4033537
Supporting Variants
Samples
Known GenesMIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR892C
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)nssv15989980
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000095


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