A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9985



Internal ID15847897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:141905268..141908053hg38UCSC Ensembl
OuterchrX:140993054..140995839hg19UCSC Ensembl
OuterchrX:140820720..140823505hg18UCSC Ensembl
OuterchrX:140718574..140721359hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg382786
hg192786
hg182786
hg172786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27555, nssv27706, nssv26427
SamplesNA18504, NA12155, NA19007
Known GenesMAGEC1
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)nsv9985
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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