A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518523



Internal ID15445816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:80082421..80220229hg38UCSC Ensembl
InnerchrX:79337920..79475728hg19UCSC Ensembl
InnerchrX:79224576..79362384hg18UCSC Ensembl
InnerchrX:79144065..79281873hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38137809
hg19137809
hg18137809
hg17137809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695964
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518523
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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