A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28322



Internal ID15491618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21495194..21550314hg38UCSC Ensembl
OuterchrY:21494984..21550603hg38UCSC Ensembl
InnerchrY:23657080..23712200hg19UCSC Ensembl
OuterchrY:23656870..23712489hg19UCSC Ensembl
InnerchrY:22066468..22121588hg18UCSC Ensembl
OuterchrY:22066258..22121877hg18UCSC Ensembl
InnerchrY:21995205..22050325hg17UCSC Ensembl
OuterchrY:21994995..22050614hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3855620
hg1955620
hg1855620
hg1755620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10026
Supporting Variants
SamplesNA18860
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)nssv28322
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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