A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9965



Internal ID15501191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:116174498..116175249hg38UCSC Ensembl
OuterchrX:115305751..115306502hg19UCSC Ensembl
OuterchrX:115219779..115220530hg18UCSC Ensembl
OuterchrX:115117633..115118384hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
hg17752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25108
SamplesNA07029
Known GenesAGTR2
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)nsv9965
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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