A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563793



Internal ID20293685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19836551..19858587hg38UCSC Ensembl
chrX:19854669..19876705hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3822037
hg1922037
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090468
Samples
Known GenesSH3KBP1
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 ID32461652
Accession Number(s)nsv4563793
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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