A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4574902



Internal ID19958091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:10452193..10452194hg38UCSC Ensembl
chrX:10420233..10420234hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16088936
Samples
Known GenesMID1
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)nsv4574902
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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