A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945334



Internal ID19670588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154036943..154038349hg38UCSC Ensembl
chrX:153302394..153303800hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381407
hg191407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4041310
Supporting Variants
Samples
Known GenesMECP2
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 ID12345678
Accession Number(s)nssv15945334
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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