A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25794



Internal ID15828141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116808606..116914119hg38UCSC Ensembl
OuterchrX:116795856..116916602hg38UCSC Ensembl
InnerchrX:115942574..116048087hg19UCSC Ensembl
OuterchrX:115929824..116050570hg19UCSC Ensembl
InnerchrX:115826602..115932115hg18UCSC Ensembl
OuterchrX:115813852..115934598hg18UCSC Ensembl
InnerchrX:115724456..115829969hg17UCSC Ensembl
OuterchrX:115711706..115832452hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38120747
hg19120747
hg18120747
hg17120747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9967
Supporting Variants
SamplesNA07048
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv25794
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer