A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27945



Internal ID15833273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:22167263..22181135hg38UCSC Ensembl
OuterchrY:22165449..22181900hg38UCSC Ensembl
InnerchrY:24313410..24327282hg19UCSC Ensembl
OuterchrY:24311596..24328047hg19UCSC Ensembl
InnerchrY:22722798..22736670hg18UCSC Ensembl
OuterchrY:22720984..22737435hg18UCSC Ensembl
InnerchrY:22651535..22665407hg17UCSC Ensembl
OuterchrY:22649721..22666172hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3816452
hg1916452
hg1816452
hg1716452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10029
Supporting Variants
SamplesNA18504
Known GenesRBMY1F, RBMY1J
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)nssv27945
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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