A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988402



Internal ID20060344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19828533..20351851hg38UCSC Ensembl
chrX:19846651..20369969hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38523319
hg19523319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035984
Supporting Variants
Samples
Known GenesCXorf23, EIF1AX, LOC729609, MAP7D2, MIR23C, RPS6KA3, SCARNA9L, SH3KBP1
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)nssv15988402
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000048


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