A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034793



Internal ID20165157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:145245035..145400554hg38UCSC Ensembl
chrX:144326555..144482072hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38155520
hg19155518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944668
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)nsv4034793
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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