A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9967



Internal ID15847879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:116795856..116916602hg38UCSC Ensembl
OuterchrX:115929824..116050570hg19UCSC Ensembl
OuterchrX:115813852..115934598hg18UCSC Ensembl
OuterchrX:115711706..115832452hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38120747
hg19120747
hg18120747
hg17120747
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28226, nssv25794, nssv26363, nssv23553
SamplesNA18563, NA18860, NA07048, NA18572
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)nsv9967
Frequency
Sample Size31
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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