A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15944669



Internal ID20016609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:145246150..145250946hg38UCSC Ensembl
chrX:144327670..144332466hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg384797
hg194797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050625
Supporting Variants
Samples
Known GenesSPANXN1
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)nssv15944669
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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