A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469819



Internal ID15534534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:149053485..149238245hg38UCSC Ensembl
InnerchrX:148135015..148319775hg19UCSC Ensembl
InnerchrX:147942733..148127442hg18UCSC Ensembl
InnerchrX:146840594..147025303hg16UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38184761
hg19184761
hg18184710
hg16184710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675013
Samples
Known Genes
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)nsv469819
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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