A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4565798



Internal ID19948999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55750826..55750827hg38UCSC Ensembl
chrX:55777259..55777260hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16089256
Samples
Known GenesRRAGB
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)nsv4565798
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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