A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16n29



Internal ID22767704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3010013..3194841hg38UCSC Ensembl
chrX:2928054..3112882hg19UCSC Ensembl
chrX:2938054..3122882hg18UCSC Ensembl
chrX:2523184..2708012hg16UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38184829
hg19184829
hg18184829
hg16184829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469756, nsv469843
Samples
Known GenesARSF, ARSH
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)dgv16n29
Frequency
Sample Size265
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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