A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988403



Internal ID19713657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20008238..20358387hg38UCSC Ensembl
chrX:20026356..20376505hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38350150
hg19350150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4036026
Supporting Variants
Samples
Known GenesEIF1AX, MAP7D2, MIR23C, RPS6KA3, SCARNA9L
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)nssv15988403
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000095


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