A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27477



Internal ID15483680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120158887..120159437hg38UCSC Ensembl
OuterchrX:120158576..120159507hg38UCSC Ensembl
InnerchrX:119292793..119293343hg19UCSC Ensembl
OuterchrX:119292482..119293413hg19UCSC Ensembl
InnerchrX:119176821..119177371hg18UCSC Ensembl
OuterchrX:119176510..119177441hg18UCSC Ensembl
InnerchrX:119074675..119075225hg17UCSC Ensembl
OuterchrX:119074364..119075295hg17UCSC 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 Variantsnsv9971
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)nssv27477
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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