A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9984



Internal ID15501210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:141678484..141701108hg38UCSC Ensembl
OuterchrX:140766642..140789264hg19UCSC Ensembl
OuterchrX:140594308..140616930hg18UCSC Ensembl
OuterchrX:140492162..140514784hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg3822625
hg1922623
hg1822623
hg1722623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25972, nssv28272, nssv23433, nssv25468, nssv27699, nssv23804, nssv27066, nssv26691, nssv26138
SamplesNA07029, NA18504, NA18860, NA07048, NA12872, NA18572, NA18853, NA19144, NA19173
Known GenesSPANXD, SPANXE
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)nsv9984
Frequency
Sample Size31
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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