A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23573



Internal ID15485535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21495194..21550603hg38UCSC Ensembl
OuterchrY:21494984..21552444hg38UCSC Ensembl
InnerchrY:23657080..23712489hg19UCSC Ensembl
OuterchrY:23656870..23714330hg19UCSC Ensembl
InnerchrY:22066468..22121877hg18UCSC Ensembl
OuterchrY:22066258..22123718hg18UCSC Ensembl
InnerchrY:21995205..22050614hg17UCSC Ensembl
OuterchrY:21994995..22052455hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3857461
hg1957461
hg1857461
hg1757461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10026
Supporting Variants
SamplesNA12872
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E
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)nssv23573
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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