A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946301



Internal ID19671555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110020772..110032972hg38UCSC Ensembl
chrX:109264000..109276200hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3812201
hg1912201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4052288
Supporting Variants
Samples
Known GenesTMEM164
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)nssv15946301
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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