A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28226



Internal ID15838069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116826382..116826536hg38UCSC Ensembl
OuterchrX:116826186..116826713hg38UCSC Ensembl
InnerchrX:115960350..115960504hg19UCSC Ensembl
OuterchrX:115960154..115960681hg19UCSC Ensembl
InnerchrX:115844378..115844532hg18UCSC Ensembl
OuterchrX:115844182..115844709hg18UCSC Ensembl
InnerchrX:115742232..115742386hg17UCSC Ensembl
OuterchrX:115742036..115742563hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38528
hg19528
hg18528
hg17528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9967
Supporting Variants
SamplesNA18860
Known Genes
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)nssv28226
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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