A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469756



Internal ID15187785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3011467..3194841hg38UCSC Ensembl
InnerchrX:2929508..3112882hg19UCSC Ensembl
InnerchrX:2939508..3122882hg18UCSC Ensembl
InnerchrX:2524638..2708012hg16UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38183375
hg19183375
hg18183375
hg16183375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n29
Supporting Variantsnssv1676379
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)nsv469756
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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