A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566850



Internal ID19950049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154836382..154836383hg38UCSC Ensembl
chrX:154064657..154064658hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16089711
Samples
Known GenesF8
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)nsv4566850
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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