A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988746



Internal ID20060689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124660368..124667583hg38UCSC Ensembl
chrX:123794218..123801433hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg387216
hg197216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044377
Supporting Variants
Samples
Known GenesTENM1
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)nssv15988746
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001894


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