A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989982



Internal ID19715236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:145962239..146202710hg38UCSC Ensembl
chrX:145043757..145284228hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38240472
hg19240472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4041471
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)nssv15989982
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000095


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