A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15943263



Internal ID20015203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30888204..30891035hg38UCSC Ensembl
chrX:30906321..30909152hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg382832
hg192832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4051764
Supporting Variants
Samples
Known GenesTAB3
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)nssv15943263
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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