A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518423



Internal ID15445716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:117092701..117285514hg38UCSC Ensembl
InnerchrX:116226669..116419477hg19UCSC Ensembl
InnerchrX:116110697..116303505hg18UCSC Ensembl
InnerchrX:116008551..116201359hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38192814
hg19192809
hg18192809
hg17192809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695858
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518423
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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