A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4036813



Internal ID20166590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101043040..101049260hg38UCSC Ensembl
chrX:100298029..100304249hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg386221
hg196221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946188
Samples
Known GenesTRMT2B
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)nsv4036813
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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