A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15944692



Internal ID20016632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:146019974..146029352hg38UCSC Ensembl
chrX:145101492..145110870hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg389379
hg199379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047764
Supporting Variants
Samples
Known GenesMIR891A
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)nssv15944692
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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