A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15943031



Internal ID20014971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102799442..102826582hg38UCSC Ensembl
chrX:102054370..102081510hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3827141
hg1927141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4051238
Supporting Variants
Samples
Known GenesLINC00630
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)nssv15943031
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000185


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