A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9966



Internal ID15847878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:116227259..116229187hg38UCSC Ensembl
OuterchrX:115358514..115360442hg19UCSC Ensembl
OuterchrX:115272542..115274470hg18UCSC Ensembl
OuterchrX:115170396..115172324hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381929
hg191929
hg181929
hg171929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23263, nssv25133
SamplesNA07029, NA12872
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)nsv9966
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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