A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469510



Internal ID15187539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:55437404..55544481hg38UCSC Ensembl
InnerchrX:55463837..55570914hg19UCSC Ensembl
InnerchrX:55480562..55587639hg18UCSC Ensembl
InnerchrX:54430628..54537705hg16UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38107078
hg19107078
hg18107078
hg16107078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672354
Samples
Known GenesMAGEH1, MIR4536-1, USP51
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469510
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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