A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27603



Internal ID15484000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:21492822..21554132hg38UCSC Ensembl
OuterchrY:21492242..21554268hg38UCSC Ensembl
InnerchrY:23654708..23716018hg19UCSC Ensembl
OuterchrY:23654128..23716154hg19UCSC Ensembl
InnerchrY:22064096..22125406hg18UCSC Ensembl
OuterchrY:22063516..22125542hg18UCSC Ensembl
InnerchrY:21992833..22054143hg17UCSC Ensembl
OuterchrY:21992253..22054279hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3862027
hg1962027
hg1862027
hg1762027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10026
Supporting Variants
SamplesNA12155
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)nssv27603
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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