A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27469



Internal ID15483695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120076864..120077414hg38UCSC Ensembl
OuterchrX:120076794..120077725hg38UCSC Ensembl
InnerchrX:119210829..119211379hg19UCSC Ensembl
OuterchrX:119210759..119211690hg19UCSC Ensembl
InnerchrX:119094857..119095407hg18UCSC Ensembl
OuterchrX:119094787..119095718hg18UCSC Ensembl
InnerchrX:118992711..118993261hg17UCSC Ensembl
OuterchrX:118992641..118993572hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38932
hg19932
hg18932
hg17932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9970
Supporting Variants
SamplesNA12155
Known GenesRHOXF2, RHOXF2B
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)nssv27469
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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