A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27706



Internal ID15833302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141905801..141907503hg38UCSC Ensembl
OuterchrX:141905268..141908053hg38UCSC Ensembl
InnerchrX:140993587..140995289hg19UCSC Ensembl
OuterchrX:140993054..140995839hg19UCSC Ensembl
InnerchrX:140821253..140822955hg18UCSC Ensembl
OuterchrX:140820720..140823505hg18UCSC Ensembl
InnerchrX:140719107..140720809hg17UCSC 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 StatusS
Merged Variantsnsv9985
Supporting Variants
SamplesNA18504
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)nssv27706
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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